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Marc C Patterson

Showing results (91-100 of 115) with videos related to

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Neurology|June 13, 2025
Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type CMarc C Patterson, Uma Ramaswami, Aimee Donald, et al.
Molecular Genetics and Metabolism|February 7, 2015
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathiesSumit Parikh, Geneviève Bernard, Richard J Leventer, et al.
Neurology. Clinical Practice|February 13, 2018
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An updateMarc C Patterson, Peter Clayton, Paul Gissen, et al.
Orphanet Journal of Rare Diseases|February 15, 2022
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)Shaun C Bolton, Vina Soran, Mercedes Pineda Marfa, et al.
Journal of Inherited Metabolic Disease|July 18, 2020
Safety and efficacy of (+)-epicatechin in subjects with Friedreich's ataxia: A phase II, open-label, prospective studyMuhammad Yasir Qureshi, Marc C Patterson, Vicki Clark, et al.
Neurology. Genetics|August 6, 2020
Expanded genetic insight and clinical experience of DNMT1-complex disorderHongyan Bi, Kaori Hojo, Masashi Watanabe, et al.
Annals of Neurology|August 5, 2018
LGI1 and CASPR2 neurological autoimmunity in childrenA Sebastian López-Chiriboga, Christopher Klein, Anastasia Zekeridou, et al.
Molecular Genetics and Metabolism|February 5, 2015
Case definition and classification of leukodystrophies and leukoencephalopathiesAdeline Vanderver, Morgan Prust, Davide Tonduti, et al.
American Journal of Human Genetics|April 9, 2013
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylationBobby G Ng, Kati J Buckingham, Kimiyo Raymond, et al.
Orphanet Journal of Rare Diseases|June 2, 2021
Correction to: Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort studyEugen Mengel, Bruno Bembi, Mireia Del Toro, et al.
Pageof 12

Showing results (91-100 of 115) with videos related to

Sort By:
Pageof 12
Neurology|June 13, 2025
Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type CMarc C Patterson, Uma Ramaswami, Aimee Donald, et al.
Molecular Genetics and Metabolism|February 7, 2015
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathiesSumit Parikh, Geneviève Bernard, Richard J Leventer, et al.
Neurology. Clinical Practice|February 13, 2018
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An updateMarc C Patterson, Peter Clayton, Paul Gissen, et al.
Orphanet Journal of Rare Diseases|February 15, 2022
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)Shaun C Bolton, Vina Soran, Mercedes Pineda Marfa, et al.
Journal of Inherited Metabolic Disease|July 18, 2020
Safety and efficacy of (+)-epicatechin in subjects with Friedreich's ataxia: A phase II, open-label, prospective studyMuhammad Yasir Qureshi, Marc C Patterson, Vicki Clark, et al.
Neurology. Genetics|August 6, 2020
Expanded genetic insight and clinical experience of DNMT1-complex disorderHongyan Bi, Kaori Hojo, Masashi Watanabe, et al.
Annals of Neurology|August 5, 2018
LGI1 and CASPR2 neurological autoimmunity in childrenA Sebastian López-Chiriboga, Christopher Klein, Anastasia Zekeridou, et al.
Molecular Genetics and Metabolism|February 5, 2015
Case definition and classification of leukodystrophies and leukoencephalopathiesAdeline Vanderver, Morgan Prust, Davide Tonduti, et al.
American Journal of Human Genetics|April 9, 2013
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylationBobby G Ng, Kati J Buckingham, Kimiyo Raymond, et al.
Orphanet Journal of Rare Diseases|June 2, 2021
Correction to: Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort studyEugen Mengel, Bruno Bembi, Mireia Del Toro, et al.
Pageof 12