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Marc C. Patterson, M.D.

  1. Neurologist
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Publications

  1. Pajusalu S, Vals MA, Serrano M, Witters P, Cechova A, Honzik T, Edmondson AC, Ficicioglu C, Barone R, De Lonlay P, Berat CM, Vuillaumier-Barrot S, Lam C, Patterson MC, Janssen MCH, Martins E, Quelhas D, Sykut-Cegielska J, Mousa J, Urreizti R, Mcwilliams P, Vernhes F, Plotkin H, Morava E, Ounap K. Genotype/phenotype relationship: lessons from 137 patients with pmm2-cdg. Human Mutation. 2024 Oct 3; 2024:8813121
  2. Park J, Bremova-Ertl T, Brands M, Foltan T, Gautschi M, Gissen P, Hahn A, Jones S, Arash-Kaps L, Kolnikova M, Patterson M, Perlman S, Ramaswami U, Reichmannova S, Rohrbach M, Schneider SA, Shaikh A, Sivananthan S, Synofzik M, Walterfarng M, Wibawa P, Martakis K, Manto M. Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders. J Neurol. 2024 Oct; 271 (10):6888-6902 Epub 2024 Sept 03
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  3. Lam C, Scaglia F, Berry GT, Larson A, Sarafoglou K, Andersson HC, Sklirou E, Tan QKG, Starosta RT, Sadek M, Wolfe L, Horikoshi S, Ali M, Barone R, Campbell T, Chang IJ, Coles K, Cook E, Eklund EA, Engelhardt NM, Freeman M, Friedman J, Fu DYT, Botzo G, Rawls B, Hernandez C, Johnsen C, Keller K, Kramer S, Kuschel B, Leshinski A, Martinez-Duncker I, Mazza GL, Mercimek-Andrews S, Miller BS, Muthusamy K, Neira J, Patterson MC, Pogorelc N, Powers LN, Ramey E, Reinhart M, Squire A, Thies J, Vockley J, Vreugdenhil H, Witters P, Youbi M, Zeighami A, Zemet R, Edmondson AC, Morava E. Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort. Mol Genet Metab. 2024 Aug; 142 (4):108509 Epub 2024 June 06
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  4. Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schols L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A. Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States. Cytotherapy. 2024 Jul; 26 (7):739-748 Epub 2024 Apr 01
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  5. Cepress M, Grund E, Leng T, Patterson M, Saify M, Mohandesi NA, Homme J. Progressive encephalopathy after routine 4-month immunizations in a patient with NAXD genetic variant. Am J Med Genet A. 2024 May; 194 (5):e63519 Epub 2024 Jan 12
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  6. Vasquez A, Miller KJ, Youssef PE, Selcen D, Patterson MC, Starnes K. A case report of hemimegalencephaly with super-refractory status epilepticus and brain atrophy associated with NPRL3 gene mutation. Seizure. 2024 Mar; 116:156-158 Epub 2023 Feb 11
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  7. Muthusamy K, Perez-Ortiz JM, Ligezka AN, Altassan R, Johnsen C, Schultz MJ, Patterson MC, Morava E. Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions. Genet Med. 2024 Feb; 26 (2):101027 Epub 2023 Nov 10
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  8. Fields T, M Bremova T, Billington I, Churchill GC, Evans W, Fields C, Galione A, Kay R, Mathieson T, Martakis K, Patterson M, Platt F, Factor M, Strupp M. N-acetyl-L-leucine for Niemann-Pick type C: a multinational double-blind randomized placebo-controlled crossover study. Trials. 2023 May 29; 24 (1):361
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  9. Sexton C, Snyder H, Beher D, Boxer AL, Brannelly P, Brion JP, Buee L, Cacace AM, Chetelat G, Citron M, DeVos SL, Diaz K, Feldman HH, Frost B, Goate AM, Gold M, Hyman B, Johnson K, Karch CM, Kerwin DR, Koroshetz WJ, Litvan I, Morris HR, Mummery CJ, Mutamba J, Patterson MC, Quiroz YT, Rabinovici GD, Rommel A, Shulman MB, Toledo-Sherman LM, Weninger S, Wildsmith KR, Worley SL, Carrillo MC. Current directions in tau research: Highlights from Tau 2020. Alzheimers Dement. 2022 May; 18 (5):988-1007 Epub 2021 Sept 28
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  10. Gupta AO, Patterson MC, Wood T, Eisengart JB, Orchard PJ, Lund TC. Hematopoietic cell transplantation for sialidosis type I. Mol Genet Metab Rep. 2022 Mar; 30:100832 Epub 2021 Dec 08
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  11. Bolton SC, Soran V, Marfa MP, Imrie J, Gissen P, Jahnova H, Sharma R, Jones S, Santra S, Crushell E, Stampfer M, Coll MJ, Dawson C, Mathieson T, Green J, Dardis A, Bembi B, Patterson MC, Vanier MT, Geberhiwot T. Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR). Orphanet J Rare Dis. 2022 Feb 14; 17 (1):51
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  12. Mengel E, Patterson MC, Chladek M, Guldberg C, I Dali C, Symonds T, Lloyd-Price L, Mathieson T, Crowe J, Burbridge C. Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective. Orphanet J Rare Dis. 2021 Nov 24; 16 (1):493
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  13. Evans W, Patterson M, Platt F, Guldberg C, Mathieson T, Pacey J, Core Working Group for the Delphi Study. International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study. Orphanet J Rare Dis. 2021 Nov 18; 16 (1):482
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  14. Mengel E, Patterson MC, Da Riol RM, Del Toro M, Deodato F, Gautschi M, Grunewald S, Gronborg S, Harmatz P, Heron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Andreasen AK, Geist MA, Havnsoe Torp Petersen N, Ingemann L, Hansen T, Blaettler T, Kirkegaard T, I Dali C. Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment. J Inherit Metab Dis. 2021 Nov; 44 (6):1463-1480 Epub 2021 Sept 07
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  15. Churchill GC, Strupp M, Factor C, Bremova-Ertl T, Factor M, Patterson MC, Platt FM, Galione A. Acetylation turns leucine into a drug by membrane transporter switching. Sci Rep. 2021 Aug 4; 11 (1):15812 Epub 2021 Aug 04
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  16. Cechova A, Honzik T, Edmondson AC, Ficicioglu C, Serrano M, Barone R, De Lonlay P, Schiff M, Witters P, Lam C, Patterson M, Janssen MCH, Correia J, Quelhas D, Sykut-Cegielska J, Plotkin H, Morava E, Sarafoglou K. Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency? Mol Genet Metab. 2021 Aug; 133 (4):397-399 Epub 2021 June 11
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  17. Muthusamy K, Boyer S, Patterson M, Bierau J, Wortmann S, Morava E. Teaching NeuroImages: Neuroimaging Findings in Inosine Triphosphate Pyrophosphohydrolase Deficiency. Neurology. 2021 Jul 06; 97(1):e109-e110. Epub 2021 Feb 16.
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  18. Huizing M, Hackbarth ME, Adams DR, Wasserstein M, Patterson MC, Walkley SU, Gahl WA, FSASD Consortium, Reimer R. Free sialic acid storage disorder: Progress and promise. Neurosci Lett. 2021 Jun 11; 755:135896 Epub 2021 Apr 20
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  19. Mengel E, Bembi B, Del Toro M, Deodato F, Gautschi M, Grunewald S, Gronborg S, Heron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Symonds T, Hudgens S, Patterson MC, Guldberg C, Ingemann L, Petersen NHT, Kirkegaard T, Dali CI. Correction to: Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study. Orphanet J Rare Dis. 2021 Jun 1; 16 (1):246 Epub 2021 June 01
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  20. Qureshi MY, Patterson MC, Clark V, Johnson JN, Moutvic MA, Driscoll SW, Kemppainen JL, Huston J 3rd, Anderson JR, Badley AD, Tebben PJ, Wackel P, Oglesbee D, Glockner J, Schreiner G, Dugar S, Touchette JC, Gavrilova RH. Safety and efficacy of (+)-epicatechin in subjects with Friedreich's ataxia: A phase II, open-label, prospective study. J Inherit Metab Dis. 2021 Mar; 44 (2):502-514 Epub 2020 Aug 31
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  21. Patterson MC, Lloyd-Price L, Guldberg C, Doll H, Burbridge C, Chladek M, iDali C, Mengel E, Symonds T. Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale. Orphanet J Rare Dis. 2021 Feb 12; 16 (1):79
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  22. Stockler-Ipsiroglu S, Potter BK, Yuskiv N, Tingley K, Patterson M, van Karnebeek C. Developments in evidence creation for treatments of inborn errors of metabolism. J Inherit Metab Dis. 2021 Jan; 44 (1):88-98 Epub 2020 Oct 04
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  23. Mengel E, Bembi B, Del Toro M, Deodato F, Gautschi M, Grunewald S, Gronborg S, Heron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Symonds T, Hudgens S, Patterson MC, Guldberg C, Ingemann L, Petersen NHT, Kirkegaard T, I Dali C. Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study. Orphanet J Rare Dis. 2020 Nov 23; 15 (1):328
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  24. Madan R, Pitts J, Patterson MC, Lloyd R, Keating G, Kotagal S. Secondary Narcolepsy in Children. J Child Neurol. 2020 Sep 15; 883073820954617 Epub 2020 Sept 15
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  25. Patterson MC, Garver WS, Giugliani R, Imrie J, Jahnova H, Meaney FJ, Nadjar Y, Vanier MT, Moneuse P, Morand O, Rosenberg D, Schwierin B, Heron B. Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study. J Inherit Metab Dis. 2020 Sep; 43 (5):1060-1069 Epub 2020 May 08
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  26. Bi H, Hojo K, Watanabe M, Yee C, Maski K, Saba S, Graff-Radford J, Machulda MM, St Louis EK, Humes IS, Flanagan EP, Nicolau S, Jones DT, Patterson MC, Kotagal S, Raz Y, Niu Z, Li J, Klein CJ. Expanded genetic insight and clinical experience of DNMT1-complex disorder. Neurol Genet. 2020 Aug; 6 (4):e456 Epub 2020 June 12
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  27. Patterson MC, Mengel E, Vanier MT, Moneuse P, Rosenberg D, Pineda M. Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry. Orphanet J Rare Dis. 2020 Apr 25; 15 (1):104
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  28. Sewani M, Nugent K, Blackburn PR, Tarnowski JM, Hernandez-Garcia A, Amiel J, Whalen S, Keren B, Courtin T, Rosenfeld JA, Yang Y, Patterson MC, Pichurin P, McLean SD, Scott DA. Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO. Am J Med Genet A. 2020 Apr; 182 (4):652-658 Epub 2019 Dec 28
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  29. Patterson MC. Neurological Complications of Measles (Rubeola). Curr Neurol Neurosci Rep. 2020 Feb 7; 20 (2):2 Epub 2020 Feb 07
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  30. Brinjikji W, Ahn ES, Patterson MC, Lanzino G. Challenging dogma: report of a spinal cord arteriovenous malformation as an acquired lesion in a pediatric patient. J Neurosurg Spine. 2020 Feb 1; 32 (2):302-304 Epub 2019 Oct 25
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  31. Neth BJ, Hewitt AL, Edlund WS, Guerin JB, Patterson MC, Keating GF. Rapidly Progressive Paraplegia in an 11-Year-Old Girl: A Case of Spinal Cord Infarction and Expected Imaging Findings. Child Neurol Open. 2020 Jan-Dec; 7:2329048X20981295 Epub 2020 Dec 22
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  32. Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Heron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenco CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH. SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Hum Mutat. 2019 Jul; 40 (7):908-925 Epub 2019 Apr 24
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  33. Lund TC, Miller WP, Eisengart JB, Simmons K, Pollard L, Renaud DL, Wenger DA, Patterson MC, Orchard PJ. Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. Mol Genet Genomic Med. 2019 Jul; 7 (7):e00712 Epub 2019 May 21
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  34. Bonnot O, Gama CS, Mengel E, Pineda M, Vanier MT, Watson L, Watissee M, Schwierin B, Patterson MC. Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry. World J Biol Psychiatry. 2019 Apr; 20 (4):310-319 Epub 2017 Oct 09
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  35. Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A. Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. J Clin Invest. 2019 Mar 1; 129 (3):1240-1256 Epub 2019 Feb 11
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  36. Dubey D, Pittock SJ, Krecke KN, Morris PP, Sechi E, Zalewski NL, Weinshenker BG, Shosha E, Lucchinetti CF, Fryer JP, Lopez-Chiriboga AS, Chen JC, Jitprapaikulsan J, McKeon A, Gadoth A, Keegan BM, Tillema JM, Naddaf E, Patterson MC, Messacar K, Tyler KL, Flanagan EP. Clinical, Radiologic, and Prognostic Features of Myelitis Associated With Myelin Oligodendrocyte Glycoprotein Autoantibody. JAMA Neurol. 2019 Mar 1; 76 (3):301-309
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  37. Sobrido MJ, Bauer P, de Koning T, Klopstock T, Nadjar Y, Patterson MC, Synofzik M, Hendriksz CJ. Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C? Orphanet J Rare Dis. 2019 Jan 21; 14 (1):20
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  38. Altassan R, Peanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grunewald S, Hernandez-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Ounap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczynska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up. J Inherit Metab Dis. 2019 Jan; 42 (1):5-28
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  39. Lopez-Chiriboga AS, Klein C, Zekeridou A, McKeon A, Dubey D, Flanagan EP, Lennon VA, Tillema JM, Wirrell EC, Patterson MC, Gadoth A, Aaen JG, Brenton JN, Bui JD, Moen A, Otten C, Piquet A, Pittock SJ. LGI1 and CASPR2 neurological autoimmunity in children. Ann Neurol. 2018 Sep; 84 (3):473-480
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  40. Smith KM, Youssef PE, Wirrell EC, Nickels KC, Payne ET, Britton JW, Shin C, Cascino GD, Patterson MC, Wong-Kisiel LC. Jeavons Syndrome: Clinical Features and Response to Treatment. Pediatr Neurol. 2018 Sep; 86:46-51 Epub 2018 July 10
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  41. Ryan CS, Fine AL, Cohen AL, Schiltz BM, Renaud DL, Wirrell EC, Patterson MC, Boczek NJ, Liu R, Babovic-Vuksanovic D, Chan DC, Payne ET. De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus. J Child Neurol. 2018 Sep; 33 (10):651-658 Epub 2018 June 07
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  42. Pineda M, Walterfang M, Patterson MC. Miglustat in Niemann-Pick disease type C patients: a review. Orphanet J Rare Dis. 2018 Aug 15; 13 (1):140
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  43. Cornec-Le Gall E, Chebib FT, Madsen CD, Senum SR, Heyer CM, Lanpher BC, Patterson MC, Albright RC, Yu AS, Torres VE, Harris PC, HALT Progression of Polycystic Kidney Disease Group Investigators. The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations. Am J Kidney Dis. 2018 Aug; 72 (2):302-308 Epub 2018 Feb 01
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  44. Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Heron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klunemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M, International Niemann-Pick Disease Registry (INPDR). Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet J Rare Dis. 2018 Apr 6; 13 (1):50 Epub 2018 Apr 06
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  45. Patterson MC, Clayton P, Gissen P, Anheim M, Bauer P, Bonnot O, Dardis A, Dionisi-Vici C, Klunemann HH, Latour P, Lourenco CM, Ory DS, Parker A, Pocovi M, Strupp M, Vanier MT, Walterfang M, Marquardt T. Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. Neurol Clin Pract. 2017 Dec; 7 (6):499-511
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  46. Patterson MC, Cole TB, Siegel E, Mackowiak PA. A Patient as Art: Andrew Wyeth's Portrayal of Christina Olson's Neurologic Disorder in Christina's World. J Child Neurol. 2017 Jun; 32 (7):647-649 Epub 2017 Mar 28
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  47. Desnick RJ, Barton NW, Furbish S, Grabowski GA, Karlsson S, Kolodny EH, Medin JA, Murray GJ, Mistry PK, Patterson MC, Schiffmann R, Weinreb NJ. Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues. Mol Genet Metab 2017 Jan - Feb; 120 (1-2):1-7 Epub 2016 Nov 12
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  48. Patterson MC, Walkley SU. Niemann-Pick disease, type C and Roscoe Brady. Mol Genet Metab 2017 Jan - Feb; 120 (1-2):34-37 Epub 2016 Nov 29
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  49. Gozes I, Patterson MC, Van Dijck A, Kooy RF, Peeden JN, Eichenberger JA, Zawacki-Downing A, Bedrosian-Sermone S. The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings. Front Endocrinol (Lausanne). 2017; 8:107 Epub 2017 May 19
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  50. Morava E, Baumgartner M, Patterson M, Rahman S, Zschocke J, Peters V. Erratum. JIMD Rep. 2017; 33:109-110
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  51. Balasubramaniam S, Lewis B, Mock DM, Patterson M, Said HM, Tarailo-Graovac M, Mattman A, van Karnebeek CD, Thorburn DR, Rodenburg RJ, Christodoulou J. Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD). JIMD Rep. 2017; 33:111
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  52. Bremova-Ertl T, Schiffmann R, Patterson MC, Belmatoug N, Billette de Villemeur T, Bardins S, Frenzel C, Malinova V, Naumann S, Arndt J, Mengel E, Reinke J, Strobl R, Strupp M. Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings. Front Neurol. 2017; 8:711 Epub 2018 Jan 15
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  53. Patterson MC, Walkley SU. Niemann-Pick disease, type c and Roscoe Brady Molecular Genetics And Metabolism. 2017 Jan-feb; 120: (1-2)34-7.
  54. Patterson MC. Perspective: The rare must become common. Nature 2016 Sep 22; 537 (7621):S151
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  55. Boczek NJ, Sigafoos AN, Zimmermann MT, Maus RL, Cousin MA, Blackburn PR, Urrutia R, Clark KJ, Patterson MC, Wick MJ, Klee EW. Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic. Clin Case Rep. 2016 Sep; 4 (9):885-95 Epub 2016 Aug 15
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  56. Weyhrauch DL, Ye D, Boczek NJ, Tester DJ, Gavrilova RH, Patterson MC, Wieben ED, Ackerman MJ. Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal PQ-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay. Pediatr Neurol. 2016 Feb; 55:46-51.
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  57. Coon EA, Ahlskog JE, Patterson MC, Niu Z, Milone M. Expanding Phenotypic Spectrum of NKX2-1-Related Disorders-Mitochondrial and Immunologic Dysfunction. JAMA Neurol. 2016 Feb; 73 (2):237-8
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  58. Hoffman EM, Ruff MW, Patterson MC. Acute Encephalopathy With Biphasic Seizures and Late Restricted Diffusion. Pediatr Neurol. 2016 Feb; 55:74-5.
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  59. Chitnis T, Ness J, Krupp L, Waubant E, Hunt T, Olsen CS, Rodriguez M, Lotze T, Gorman M, Benson L, Belman A, Weinstock-Guttman B, Aaen G, Graves J, Patterson M, Rose JW, Casper TC. Clinical features of neuromyelitis optica in children: US Network of Pediatric MS Centers report. Neurology. 2016 Jan 19; 86: (3)245-52.
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  60. Rahman S, Baumgartner MR, Morava E, Patterson M, Peters V, Zschocke J. Peer review fraud-it's not big and it's not clever. J Inherit Metab Dis 2016 Jan; 39 (1):1-2 Epub 2015 Dec 11
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  61. Feyissa AM, Patterson MC, Wong-Kisiel LC. Too Old for a Diaper! A Child With Diaper Changing-Induced Seizures. Pediatr Neurol. 2016 Jan; 54:91-2 Epub 2015 Sept 21
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  62. Casper TC, Rose JW, Roalstad S, Waubant E, Aaen G, Belman A, Chitnis T, Gorman M, Krupp L, Lotze TE, Ness J, Patterson M, Rodriguez M, Weinstock-Guttman B, Browning B, Graves J, Tillema JM, Benson L, Harris Y, US Network of Pediatric Multiple Sclerosis Centers. The US Network of Pediatric Multiple Sclerosis Centers: Development, Progress, and Next Steps. J Child Neurol. 2015 Sep; 30: (10)1381-7.
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  63. Patterson MC, Mengel E, Vanier MT, Schwierin B, Muller A, Cornelisse P, Pineda M, NPC Registry investigators. Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study. Orphanet J Rare Dis. 2015 May 28; 10:65
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  64. Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS, GLIA Consortium. Case definition and classification of leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015 Apr; 114 (4):494-500 Epub 2015 Jan 29
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  65. Parikh S, Bernard G, Leventer RJ, van der Knaap MS, van Hove J, Pizzino A, McNeill NH, Helman G, Simons C, Schmidt JL, Rizzo WB, Patterson MC, Taft RJ, Vanderver A, GLIA Consortium. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. Mol Genet Metab. 2015 Apr; 114 (4):501-515 Epub 2014 Dec 29
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  66. Qubty WF, Mrelashvili A, Patterson MC. Epidural hematoma in a patient on pegylated-L-asparginase therapy. J Child Neurol. 2015 Apr; 30 (5):636 Epub 2014 Jan 05
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  67. Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A, GLIA Consortium. Disease specific therapies in leukodystrophies and leukoencephalopathies. Mol Genet Metab 2015 Apr; 114 (4):527-36 Epub 2015 Feb 07
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  68. Van Haren K, Bonkowsky JL, Bernard G, Murphy JL, Pizzino A, Helman G, Suhr D, Waggoner J, Hobson D, Vanderver A, Patterson MC, GLIA Consortium. Consensus statement on preventive and symptomatic care of leukodystrophy patients. Mol Genet Metab 2015 Apr; 114 (4):516-26 Epub 2014 Dec 27
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  69. Volk A, Conboy E, Wical B, Patterson M, Kirmani S. Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective. Mol Syndromol. 2015 Feb; 6 (1):23-31 Epub 2015 Feb 03
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  70. Freeze HH, Eklund EA, Ng BG, Patterson MC. Neurological aspects of human glycosylation disorders. Annu Rev Neurosci. 2015; 38:105-25.
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  71. Hendriksz CJ, Pineda M, Fahey M, Walterfang M, Stampfer M, Runz H, Patterson MC, Torres JV, Kolb SA. The Niemann-Pick disease type C suspicion index: development of a new tool to aid diagnosis. J Rare Disorders: Diagnosis and Therapy. 2015; 1(11):1-9.
  72. Graves J, Grandhe S, Weinfurtner K, Krupp L, Belman A, Chitnis T, Ness J, Weinstock-Guttman B, Gorman M, Patterson M, Rodriguez M, Lotze T, Aaen G, Mowry EM, Rose JW, Simmons T, Casper TC, James J, Waubant E, US Network of Pediatric Multiple Sclerosis Centers. Protective environmental factors for neuromyelitis optica. Neurology. 2014 Nov 18; 83 (21):1923-9 Epub 2014 Oct 22
    View PubMed
  73. Charvet LE, O'Donnell EH, Belman AL, Chitnis T, Ness JM, Parrish J, Patterson M, Rodriguez M, Waubant E, Weinstock-Guttman B, Krupp LB, US Network of Pediatric MS Centers. Longitudinal evaluation of cognitive functioning in pediatric multiple sclerosis: report from the US Pediatric Multiple Sclerosis Network. Mult Scler. 2014 Oct; 20 (11):1502-10 Epub 2014 Mar 31
    View PubMed
  74. Patterson MC. Brave New World. Child Neurol Open. 2014 Jul-Sep; 1 (1):2329048X14542399 Epub 2014 Aug 26
    View PubMed
  75. Kenney D, Wickremasinghe AC, Ameenuddin N, Patterson MC. A 19-month-old girl of South Indian parents presented to a general pediatric clinic for evaluation of global developmental regression. Semin Pediatr Neurol. 2014 Jun; 21(2):88-9. Epub 2014 Apr 13.
    View PubMed
  76. Casper TC, Rose JW, Roalstad S, Waubant E, Aaen G, Belman A, Chitnis T, Gorman M, Krupp L, Lotze TE, Ness J, Patterson MC, Rodriguez M, Weinstock-Guttman B, Browning B, Graves J, Tillema J-M, Benson L, Harris Y, the US Network of Pediatric Multiple Sclerosis Centers. The US Network of Pediatric Multiple Sclerosis Centers: Development, Progress, and Next Steps. J Child Neurol. 2014. Epub 2014 Sep 30
  77. Wraith JE, Sedel F, Pineda M, Wijburg FA, Hendriksz CJ, Fahey M, Walterfang M, Patterson MC, Chadha-Boreham H, Kolb SA. Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations. J Inherit Metab Dis. 2014 Jan; 37(1):93-101. Epub 2013 Jun 21
    View PubMed
  78. Bauer P, Balding DJ, Klunemann HH, Linden DE, Ory DS, Pineda M, Priller J, Sedel F, Muller A, Chadha-Boreham H, Welford RW, Strasser DS, Patterson MC. Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study. Hum Mol Genet. 2013 Nov 1; 22(21):4349-56. Epub 2013 Jun 16.
    View PubMed
  79. Patterson M. Niemann-Pick Disease Type C. GeneReviews™ [Internet] Seattle (WA) University of Washington, Seattle 1993-2013 Available from: http://wwwncbinlmnihgov/books/NBK1296/. [Updated 2013 Jul 18]. Epub 2013 Jul 18
  80. Ng BG, Buckingham KJ, Raymond K, Kircher M, Turner EH, He M, Smith JD, Eroshkin A, Szybowska M, Losfeld ME, Chong JX, Kozenko M, Li C, Patterson MC, Gilbert RD, Nickerson DA, Shendure J, Bamshad MJ, University of Washington Center for Mendelian Genomics, Freeze HH. Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. Am J Hum Genet. 2013 Apr 4; 92(4):632-6.
    View PubMed
  81. Baruth JM, Wall CA, Patterson MC, Port JD. Proton magnetic resonance spectroscopy as a probe into the pathophysiology of autism spectrum disorders (ASD): a review. Autism Res. 2013 Apr; 6 (2):119-33 Epub 2013 Feb 21
    View PubMed
  82. Loar RW, Patterson MC, O'Leary PW, Driscoll DJ, Johnson JN. Posterior reversible encephalopathy syndrome and hemorrhage associated with tacrolimus in a pediatric heart transplantation recipient. Pediatr Transplant. 2013 Mar; 17(2):E67-70. Epub 2013 Jan 17.
    View PubMed
  83. Gilbert DL, Patterson MC, Pugh JA, Ridel KR, Reynolds TQ, Valencia I. Views of recently first-certified US child neurologists on their residency training. J Child Neurol. 2013 Mar; 28(3):332-9. Epub 2013 Jan 28.
    View PubMed
  84. Patterson MC, Mengel E, Wijburg FA, Muller A, Schwierin B, Drevon H, Vanier MT, Pineda M. Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis. 2013 Jan 16; 8:12
    View PubMed
  85. Patterson MC, Mengel E, Wijburg FA, Muller A, Schwierin B, Drevon H, Vanier MT, Pineda M. Correction: Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis. 2013; 8(1):73. Epub 2013 May 14
    View PubMed
  86. Julian L, Serafin D, Charvet L, Ackerson J, Benedict R, Braaten E, Brown T, O'Donnell E, Parrish J, Preston T, Zaccariello M, Belman A, Chitnis T, Gorman M, Ness J, Patterson M, Rodriguez M, Waubant E, Weinstock-Guttman B, Yeh A, Krupp LB, Network of Pediatric MS Centers of Excellence. Cognitive impairment occurs in children and adolescents with multiple sclerosis: results from a United States network. J Child Neurol. 2013 Jan; 28(1):102-7. Epub 2012 Nov 15.
    View PubMed
  87. Patterson MC. Gangliosidoses. Handb Clin Neurol. 2013; 113:1707-8.
    View PubMed
  88. Vanderver A, Tonduti D, Auerbach S, Schmidt JL, Parikh S, Gowans GC, Jackson KE, Brock PL, Patterson M, Nehrebecky M, Godfrey R, Zein WM, Gahl W, Toro C. Neurotransmitter abnormalities and response to supplementation in SPG11. Mol Genet Metab. 2012 Sep; 107(1-2):229-33. Epub 2012 Jun 01.
    View PubMed
  89. Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F, NP-C Guidelines Working Group. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012 Jul; 106 (3):330-44 Epub 2012 May 08
    View PubMed
  90. Wijburg FA, Sedel F, Pineda M, Hendriksz CJ, Fahey M, Walterfang M, Patterson MC, Wraith JE, Kolb SA. Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Neurology. 2012 May 15; 78(20):1560-7. Epub 2012 Apr 18.
    View PubMed
  91. Coon EA, Patterson MC. Teaching neuroimages: call it as you see it: evolution of bilateral striatal necrosis. Neurology. 2012 May 8; 78(19):e123.
    View PubMed
  92. Dhamija R, Patterson MC, Wirrell EC. Epilepsy in children--when should we think neurometabolic disease? J Child Neurol. 2012 May; 27(5):663-71. Epub 2012 Feb 28.
    View PubMed
  93. Freeze HH, Eklund EA, Ng BG, Patterson MC. Neurology of inherited glycosylation disorders. Lancet Neurol. 2012 May; 11(5):453-66.
    View PubMed
  94. Walterfang M, Chien YH, Imrie J, Rushton D, Schubiger D, Patterson MC. Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat. Orphanet J Rare Dis. 2012; 7:76. Epub 2012 Oct 06.
    View PubMed
  95. Paciorkowski AR, Shafrir Y, Hrivnak J, Patterson MC, Tennison MB, Clark HB, Gomez CM. Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms. Neurology. 2011 Sep 13; 77(11):1055-60. Epub 2011 Aug 31.
    View PubMed
  96. Ali Pervaiz M, Patterson MC, Struys EA, Salomons GS, Jakobs C, Oglesbee D, Kirmani S. Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria. J Neurol 2011 Aug; 258 (8):1564-5 Epub 2011 Mar 08
    View PubMed
  97. Patterson MC. Inborn errors of metabolism for child neurology residents. Semin Pediatr Neurol. 2011 Jun; 18(2):95-7.
    View PubMed
  98. Goez HR, Jacob FD, Fealey RD, Patterson MC, Ramaswamy V, Persad R, Johnson ES, Yager JY. An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type C. J Child Neurol. 2011 Apr; 26(4):518-21. Epub 2011 Jan 27.
    View PubMed
  99. Dickson PI, Pariser AR, Groft SC, Ishihara RW, McNeil DE, Tagle D, Griebel DJ, Kaler SG, Mink JW, Shapiro EG, Bjoraker KJ, Krivitzky L, Provenzale JM, Gropman A, Orchard P, Raymond G, Cohen BH, Steiner RD, Goldkind SF, Nelson RM, Kakkis E, Patterson MC. Research challenges in central nervous system manifestations of inborn errors of metabolism. Mol Genet Metab. 2011 Mar; 102(3):326-38. Epub 2010 Dec 02.
    View PubMed
  100. Wong-Kisiel LC, Ji T, Renaud DL, Kotagal S, Patterson MC, Dalmau J, Mack KJ. Response to immunotherapy in a 20-month-old boy with anti-NMDA receptor encephalitis. Neurology. 2010 May 11; 74 (19):1550-1
    View PubMed
  101. Wraith JE, Vecchio D, Jacklin E, Abel L, Chadha-Boreham H, Luzy C, Giorgino R, Patterson MC. Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial. Mol Genet Metab. 2010 Apr; 99(4):351-7. Epub 2009 Dec 31.
    View PubMed
  102. Patterson MC, Vecchio D, Jacklin E, Abel L, Chadha-Boreham H, Luzy C, Giorgino R, Wraith JE. Long-term miglustat therapy in children with Niemann-Pick disease type C. J Child Neurol. 2010 Mar; 25(3):300-5. Epub 2009 Oct 12.
    View PubMed
  103. Yanjanin NM, Velez JI, Gropman A, King K, Bianconi SE, Conley SK, Brewer CC, Solomon B, Pavan WJ, Arcos-Burgos M, Patterson MC, Porter FD. Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5; 153B(1):132-40.
    View PubMed
  104. Lehman VT, Patterson MC, Babovic-Vuksanovic D, Rydberg C. Cerebral and cerebellar white matter abnormalities with magnetic resonance imaging in a child with Feingold syndrome. Am J Med Genet A. 2009 Dec; 149A (12):2824-7
    View PubMed
  105. Laszlo A, Voros E, Buga K, Horvath K, Mayer P, Osztovics M, Pavics L, Svekus A, Patterson MC. Myelination disturbance in a patient with hyperuricemia and hyperserotoninemia combined with 18q deletion syndrome. Ideggyogy Sz. 2009 Nov 30; 62(11-12):413-7.
    View PubMed
  106. Pineda M, Wraith JE, Mengel E, Sedel F, Hwu WL, Rohrbach M, Bembi B, Walterfang M, Korenke GC, Marquardt T, Luzy C, Giorgino R, Patterson MC. Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study. Mol Genet Metab. 2009 Nov; 98(3):243-9. Epub 2009 Aug 04.
    View PubMed
  107. Hsu AW, Piboolnurak PA, Floyd AG, Yu QP, Wraith JE, Patterson MC, Pullman SL. Spiral analysis in Niemann-Pick disease type C. Mov Disord. 2009 Oct 15; 24(13):1984-90.
    View PubMed
  108. NP-C Guidelines Working Group, Wraith JE, Baumgartner MR, Bembi B, Covanis A, Levade T, Mengel E, Pineda M, Sedel F, Topcu M, Vanier MT, Widner H, Wijburg FA, Patterson MC. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab. 2009 Sep-Oct; 98(1-2):152-65. Epub 2009 Jun 14.
    View PubMed
  109. Akman CI, Montenegro MA, Jacob S, Eck K, McBrian D, Chiriboga CA, Patterson MC. Subclinical seizures in children diagnosed with localization-related epilepsy: clinical and EEG characteristics. Epilepsy Behav. 2009 Sep; 16(1):86-98.
    View PubMed
  110. Akman CI, Patterson MC, Rubinstein A, Herzog R. Limbic encephalitis associated with anti-GAD antibody and common variable immune deficiency. Dev Med Child Neurol. 2009 Jul; 51(7):563-7. Epub 2009 Feb 03.
    View PubMed
  111. Miller BS, Khosravi MJ, Patterson MC, Conover CA. IGF system in children with congenital disorders of glycosylation. Clin Endocrinol (Oxf). 2009 Jun; 70(6):892-7. Epub 2009 Jan 22.
    View PubMed
  112. Duffner PK, Caviness VS Jr, Erbe RW, Patterson MC, Schultz KR, Wenger DA, Whitley C. The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. Genet Med. 2009 Jun; 11(6):450-4.
    View PubMed
  113. Duffner PK, Caggana M, Orsini JJ, Wenger DA, Patterson MC, Crosley CJ, Kurtzberg J, Arnold GL, Escolar ML, Adams DJ, Andriola MR, Aron AM, Ciafaloni E, Djukic A, Erbe RW, Galvin-Parton P, Helton LE, Kolodny EH, Kosofsky BE, Kronn DF, Kwon JM, Levy PA, Miller-Horn J, Naidich TP, Pellegrino JE, Provenzale JM, Rothman SJ, Wasserstein MP. Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol. 2009 Apr; 40(4):245-52; discussion 253-5.
    View PubMed
  114. Sturley SL, Patterson MC, Pentchev P. Unraveling the sterol-trafficking defect in Niemann-Pick C disease. Proc Natl Acad Sci U S A 2009 Feb 17; 106 (7):2093-4 Epub 2009 Feb 11
    View PubMed
  115. Patterson MC. Niemann-Pick disease type C -- the challenge of diagnosis and treatment. European Pediatrics. 2009; 3(1):10-3.
  116. Çoku J, Shanske S, Mehrazina M, Tanjib K, Patterson MC, Hirano M, DiMauro S. Slowly Progressive Multisystem Disorder Associated With a Mutation in the mtDNA tRNA (LeuCUN) Gene. Journal of Neurology. 2009 Epub 2009 Dec 22.
  117. Montenegro MA, Eck K, Jacob S, Cappell J, Chriboga C, Emerson R, Patterson MC, Akman CI. Long-term outcome of symptomatic infantile spasms established by video-electroencephalography (EEG) monitoring. J Child Neurol. 2008 Nov; 23(11):1288-92.
    View PubMed
  118. van der Knaap MS, Arts WF, Garbern JY, Hedlund G, Winkler F, Barbosa C, King MD, Bjornstad A, Hussain N, Beyer MK, Gomez C, Patterson MC, Grattan-Smith P, Timmons M, van der Valk P. Cerebellar leukoencephalopathy: most likely histiocytosis-related. Neurology. 2008 Oct 21; 71(17):1361-7.
    View PubMed
  119. Montenegro MA, Sproule D, Mandel A, Cappell J, Chiriboga CA, Jacob S, Eck K, Patterson MC, Akman CI. The frequency of non-epileptic spells in children: results of video-EEG monitoring in a tertiary care center. Seizure. 2008 Oct; 17(7):583-7. Epub 2008 May 01.
    View PubMed
  120. Noble JM, Patterson MC. Vitamin C deficiency. Epocrates Online. 2008:632.
  121. Patterson MC, Vecchio D, Prady H, Abel L, Wraith JE. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol. 2007 Sep; 6(9):765-72.
    View PubMed
  122. Floyd AG, Yu QP, Piboolnurak P, Wraith E, Patterson MC, Pullman SL. Kinematic analysis of motor dysfunction in Niemann-Pick type C. Clin Neurophysiol. 2007 May; 118(5):1010-8. Epub 2007 Feb 27.
    View PubMed
  123. Noble JM, Mandel A, Patterson MC. Scurvy and rickets masked by chronic neurologic illness: revisiting "psychologic malnutrition". Pediatrics. 2007 Mar; 119(3):e783-90.
    View PubMed
  124. Mellinger JF, Patterson MC. In memoriam: Manuel Rodriguez Gomez, MD July 4, 1928 - January 21, 2006. Pediatr Neurol. 2006 Jul; 35 (1):47-8
    View PubMed
  125. ACMG Work Group on Management of Pompe Disease, Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS. Pompe disease diagnosis and management guideline. Genet Med. 2006 May; 8(5):267-88.
    View PubMed
  126. Patterson MC. Metabolic mimics: the disorders of N-linked glycosylation. Semin Pediatr Neurol. 2005 Sep; 12(3):144-51.
    View PubMed
  127. Sturley SL, Patterson MC, Balch W, Liscum L. The pathophysiology and mechanisms of NP-C disease. Biochim Biophys Acta. 2004 Oct 11; 1685(1-3):83-7.
    View PubMed
  128. Patterson MC, Platt F. Therapy of Niemann-Pick disease, type C. Biochim Biophys Acta. 2004 Oct 11; 1685(1-3):77-82.
    View PubMed
  129. Kulikova-Schupak R, Knupp KG, Pascual JM, Chin SS, Kairam R, Patterson MC. Rectal biopsy in the diagnosis of neuronal intranuclear hyaline inclusion disease. J Child Neurol. 2004 Jan; 19(1):59-62.
    View PubMed
  130. Patterson MC. Niemann-Pick disease, type C. Gene Reviews at Gene Tests: Medical Genetics Information Resource. www.geneclinics.org [database online]. 2003 Dec 18.
  131. Patterson MC. A riddle wrapped in a mystery: understanding Niemann-Pick disease, type C. Neurologist. 2003 Nov; 9(6):301-10.
    View PubMed
  132. Park WD, O'Brien JF, Lundquist PA, Kraft DL, Vockley CW, Karnes PS, Patterson MC, Snow K. Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. Hum Mutat. 2003 Oct; 22 (4):313-25
    View PubMed
  133. Pirko I, Kuntz NL, Patterson M, Patterson M, Keegan BM, Weinshenker BG, Rodriguez M, Rodriguez M. Contrasting effects of IFNbeta and IVIG in children with central and peripheral demyelination. Neurology. 2003 May 27; 60 (10):1697-9
    View PubMed
  134. Mancuso M, Filosto M, Stevens JC, Patterson M, Shanske S, Krishna S, DiMauro S. Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene. J Neurol Sci. 2003 May 15; 209(1-2):61-3.
    View PubMed
  135. Mao R, Aylsworth AS, Potter N, Wilson WG, Breningstall G, Wick MJ, Babovic-Vuksanovic D, Nance M, Patterson MC, Gomez CM, Snow K. Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7. Am J Med Genet. 2002 Jul 15; 110(4):338-45.
    View PubMed
  136. Patterson MC. Polyradiculoneuropathies. Gellis & Kagan's Current Pediatric Therapy. 2002; 418-20.
  137. Westphal V, Peterson S, Patterson M, Tournay A, Blumenthal A, Treacy EP, Freeze HH. Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia. Genet Med. 2001 Nov-Dec; 3(6):393-8.
    View PubMed
  138. Patterson M. Niemann-Pick disease, type C. Gene reviews at gene tests: medical genetics information resource. www.geneclinics.org [database online]. 2001 Sep 10.
  139. Sun X, Marks DL, Park WD, Wheatley CL, Puri V, O'Brien JF, Kraft DL, Lundquist PA, Patterson MC, Pagano RE, Snow K. Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. Am J Hum Genet. 2001 Jun; 68 (6):1361-72 Epub 2001 May 09
    View PubMed
  140. Schollen E, Dorland L, de Koning TJ, Van Diggelen OP, Huijmans JG, Marquardt T, Babovic-Vuksanovic D, Patterson M, Imtiaz F, Winchester B, Adamowicz M, Pronicka E, Freeze H, Matthijs G. Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib). Hum Mutat. 2000 Sep; 16(3):247-52.
    View PubMed
  141. Beran-Koehn MA, Zupanc ML, Patterson MC, Olk DG, Ahlskog JE. Violent recurrent ballism associated with infections in two children with static encephalopathy. Mov Disord. 2000 May; 15: (3)570-4.
    View PubMed
  142. Patterson MC. Niemann-Pick disease, type C. Gene reviews at gene tests: medical genetics information resource. www.geneclinics.org [database online]. 2000 Jan 25.
  143. Kim S, Westphal V, Srikrishna G, Mehta DP, Peterson S, Filiano J, Karnes PS, Patterson MC, Freeze HH. Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie). J Clin Invest. 2000 Jan; 105(2):191-8.
    View PubMed
  144. Babovic-Vuksanovic D, Patterson MC, Schwenk WF, Schwenk WF, O'Brien JF, Vockley J, Freeze HH, Vockley J, Mehta DP, Michels VV. Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. J Pediatr. 1999 Dec; 135 (6):775-81
    View PubMed
  145. Patterson MC. Screening for "prelysosomal disorders": carbohydrate-deficient glycoprotein syndromes. J Child Neurol. 1999 Nov; 14 Suppl 1:S16-22.
    View PubMed
  146. Quiram PA, Ohno K, Milone M, Patterson MC, Pruitt NJ, Brengman JM, Sine SM, Engel AG. Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly. J Clin Invest. 1999 Nov; 104 (10):1403-10
    View PubMed
  147. Chen CS, Patterson MC, Wheatley CL, O'Brien JF, Pagano RE. Broad screening test for sphingolipid-storage diseases. Lancet. 1999 Sep 11; 354 (9182):901-5
    View PubMed
  148. Neufeld EB, Wastney M, Patel S, Suresh S, Cooney AM, Dwyer NK, Roff CF, Ohno K, Morris JA, Carstea ED, Incardona JP, Strauss JF 3rd, Vanier MT, Patterson MC, Brady RO, Pentchev PG, Blanchette-Mackie EJ. The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo. J Biol Chem. 1999 Apr 2; 274(14):9627-35.
    View PubMed
  149. Babovic-Vuksanovic D, Snow K, Patterson MC, Michels VV. Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion. Am J Med Genet. 1998 Oct 12; 79(5):383-7.
    View PubMed
  150. Patterson MC. Headache evaluation: pitfalls to avoid. Audio-Digest Pediatrics. 1998; 44(8).
  151. Schiffmann R, Heyes MP, Aerts JM, Dambrosia JM, Patterson MC, DeGraba T, Parker CC, Zirzow GC, Oliver K, Tedeschi G, Brady RO, Barton NW. Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease. Ann Neurol. 1997 Oct; 42(4):613-21.
    View PubMed
  152. Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, Gu J, Rosenfeld MA, Pavan WJ, Krizman DB, Nagle J, Polymeropoulos MH, Sturley SL, Ioannou YA, Higgins ME, Comly M, Cooney A, Brown A, Kaneski CR, Blanchette-Mackie EJ, Dwyer NK, Neufeld EB, Chang TY, Liscum L, Strauss JFI, Ohno K, Zeigler M, Carmi R, Sokol J, Markie D, O'Neill RR, van Diggelen OP, Elleder M, Patterson MC, Brady RO, Vanier MT, Pentchev PG, Tagle DA. Niemann-pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science. 1997 Jul 11; 277(5323):228-31.
    View PubMed
  153. Crifasi PA, Patterson MC, Bonde D, Michels VV. Severe Hajdu-Cheney syndrome with upper airway obstruction. Am J Med Genet. 1997 Jun 13; 70(3):261-6.
    View PubMed
  154. Rubin DI, Patterson MC, Westmoreland BF, Klass DW. Angelman's syndrome: clinical and electroencephalographic findings. Electroencephalogr Clin Neurophysiol. 1997 Apr; 102 (4):299-302
    View PubMed
  155. O'Marcaigh AS, Johnson CM, Smithson WA, Patterson MC, Widemann BC, Adamson PC, McManus MJ. Successful treatment of intrathecal methotrexate overdose by using ventriculolumbar perfusion and intrathecal instillation of carboxypeptidase G2. Mayo Clin Proc. 1996 Feb; 71 (2):161-5
    View PubMed
  156. Morita A, Meyer FB, Nichols DA, Patterson MC. Childhood dural arteriovenous fistulae of the posterior dural sinuses: three case reports and literature review. Neurosurgery. 1995 Dec; 37 (6):1193-9; discussion 1199-200
    View PubMed
  157. Rosenthal DI, Doppelt SH, Mankin HJ, Dambrosia JM, Xavier RJ, McKusick KA, Rosen BR, Baker J, Niklason LT, Hill SC, Miller SPF, Brady RO, Barton NW, Collaborators (Graham OC, Dobbin MG, Kaneski CR, Kreps CB, Oliver KL, Zirzow GC, Banerjee TK, Higgins JJ, McKee MA, Parker CC, Patterson MC, Schiffmann R). Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics.. 1995 Oct; 96: (4 Pt 1)629-37.
    View PubMed
  158. Roff CF, Strauss JF 3rd, Goldin E, Jaffe H, Patterson MC, Agritellis GC, Hibbs AM, Garfield M, Brady RO, Pentchev PG. The murine Niemann-Pick type C lesion affects testosterone production. Endocrinology. 1993 Dec; 133(6):2913-23.
    View PubMed
  159. Patterson MC, Horowitz M, Abel RB, Currie JN, Yu KT, Kaneski C, Higgins JJ, O'Neill RR, Fedio P, Pikus A, et al. Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease. Neurology. 1993 Oct; 43(10):1993-7.
    View PubMed
  160. Carstea ED, Polymeropoulos MH, Parker CC, Detera-Wadleigh SD, O'Neill RR, Patterson MC, Goldin E, Xiao H, Straub RE, Vanier MT, et al. Linkage of Niemann-Pick disease type C to human chromosome 18. Proc Natl Acad Sci U S A. 1993 Mar 1; 90(5):2002-4.
    View PubMed
  161. Patterson MC, Di Bisceglie AM, Higgins JJ, Abel RB, Schiffmann R, Parker CC, Argoff CE, Grewal RP, Yu K, Pentchev PG, et al. The effect of cholesterol-lowering agents on hepatic and plasma cholesterol in Niemann-Pick disease type C. Neurology. 1993 Jan; 43(1):61-4.
    View PubMed
  162. Higgins JJ, Patterson MC, Dambrosia JM, Pikus AT, Pentchev PG, Sato S, Brady RO, Barton NW. A clinical staging classification for type C Niemann-Pick disease. Neurology. 1992 Dec; 42(12):2286-90.
    View PubMed
  163. Butler JD, Blanchette-Mackie J, Goldin E, O'Neill RR, Carstea G, Roff CF, Patterson MC, Patel S, Comly ME, Cooney A, et al. Progesterone blocks cholesterol translocation from lysosomes. J Biol Chem. 1992 Nov 25; 267(33):23797-805.
    View PubMed
  164. Higgins JJ, Patterson MC, Papadopoulos NM, Brady RO, Pentchev PG, Barton NW. Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome). Neurology. 1992 Jan; 42(1):194-8.
    View PubMed
  165. Patterson MC, Gomez MR. Muscle disease in children: a practical approach. Pediatr Rev. 1990 Sep; 12 (3):73-82
    View PubMed
  166. Chalk JB, Patterson MC, Pender MP. An intracranial arteriovenous malformation and palatal myoclonus related to pseudoxanthoma elasticum. Aust N Z J Med. 1989 Apr; 19(2):141-3.
    View PubMed
  167. Patterson MC, Tomlinson FH, Stuart GG. Palinacousis: a case report. Neurosurgery. 1988 Jun; 22(6 Pt 1):1088-90.
    View PubMed
  168. Patterson MC. Potential to produce hepatotoxicity (Valproate). Curr Ther. 1987; 28(10):63-5.
  169. Brandon RA, Eadie MJ, Curran AC, Nolan PC, Presneill JJ, Patterson MC. A new formulation of aspirin: bioavailability and analgesic efficacy in migraine attacks. Cephalalgia. 1986 Mar; 6(1):19-27.
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  170. Chalk JB, Patterson M, Smith MT, Eadie MJ. Correlation between in vitro dissolution, in vivo bioavailability and hypoglycemic effect of oral glibenclamide. Eur J Clin Pharm. 1986; 31:175-82.
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  171. Dickinson RG, Kluck RM, Hooper WD, Patterson M, Chalk JB, Eadie MJ. Rearrangement of valproate glucuronide in a patient with drug-associated hepatobiliary and renal dysfunction. Epilepsia. 1985 Nov-Dec; 26(6):589-93.
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  172. Patterson MC, Bunce IH, Eadie MJ. Cerebral abscess in leukaemia: an unusual presentation of a rare complication. Clin Exp Neurol. 1985; 21:257-62.
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  173. Hooper WD, King AR, Patterson M, Dickinson RG, Eadie MJ. Simultaneous plasma carbamazepine and carbamazepine-epoxide concentrations in pharmacokinetic and bioavailability studies. Ther Drug Monit. 1985; 7(1):36-40.
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  174. Dickinson RG, Hooper WD, Patterson M, Eadie MJ, Maguire B. Extent of urinary excretion of p-hydroxyphenytoin in healthy subjects given phenytoin. Ther Drug Monit. 1985; 7(3):283-9.
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  175. Patterson M, Heazelwood R, Smithurst B, Eadie MJ. Plasma protein binding of phenytoin in the aged: in vivo studies. Br J Clin Pharmac. 1982; 13:423-5.
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