Publications by authors named "Seth Perlman"

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Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing.
Jonathan Marquez, Jennifer N Cech, Cate R Paschal, Bri Dingmann, Anna I Scott, Seth J Perlman

Genet Med Open· August 2024

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Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial.
Utkarsh J Dang, Jesse M Damsker, Michela Guglieri, Paula R Clemens, Seth J Perlman

Neurology· March 2024

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Inpatient rehabilitation admission for a patient with spinal muscular atrophy status post gene therapy.
Jaclyn C Omura, Casey L Freeman, Seth J Perlman, Molly M Fuentes

PM R· October 2023

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Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
Michela Guglieri, Paula R Clemens, Seth J Perlman, Edward C Smith, Iain Horrocks

JAMA Neurol· October 2022

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A population-based study of scoliosis among males diagnosed with a dystrophinopathy identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).
Kristin M Conway, Amber Gedlinske, Katherine D Mathews, Seth Perlman, Nicholas Johnson

Muscle Nerve· February 2022

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Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Sacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, Lodewijk IJlst, Petra M Mooijer, Seth Perlman

Genet Med· December 2021

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Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Janel O Johnson, Ruth Chia, Danny E Miller, Rachel Li, Ravindran Kumaran, Seth J Perlman

JAMA Neurol· October 2021

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Targeted long-read sequencing identifies missing disease-causing variation.
Danny E Miller, Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Seth J Perlman

Am J Hum Genet· August 2021

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An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Sacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, Lodewijk IJlst, Petra M Mooijer, Seth Perlman

Genet Med· April 2021

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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Darius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, Miriam Wimmer, Angelica D'Amore, Seth Perlman

Brain· October 2020

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Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant).
Paloma Gonzalez-Perez, Cheryl Smith, Wendy L Sebetka, Amber Gedlinske, Seth Perlman

Neuromuscul Disord· March 2020

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Response to Eculizumab in Escherichia coli O157: H7-induced hemolytic uremic syndrome with severe neurological manifestations.
Arun Saini, Amanda R Emke, Manuel C Silva, Seth J Perlman

Clin Pediatr (Phila)· April 2015

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Evidence-based decision support for neurological diagnosis reduces errors and unnecessary workup.
Michael M Segal, Marc S Williams, Andrea L Gropman, Alcy R Torres, Rob Forsyth, Seth J Perlman

J Child Neurol· April 2014

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Childhood Graves disease masquerading as myasthenia gravis.
Seth J Perlman, Craig M Zaidman

J Child Neurol· October 2013

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Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.
Seth J Perlman, Shashikant Kulkarni, Linda Manwaring, Marwan Shinawi

Am J Med Genet A· April 2013

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Clinical, neurological, and electrophysiological features of nodding syndrome in Kitgum, Uganda: an observational case series.
James J Sejvar, Angelina M Kakooza, Jennifer L Foltz, Issa Makumbi, Anne Deborah Atai-Omoruto, Seth Perlman

Lancet Neurol· February 2013

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Leukodystrophies.
Seth J Perlman, Soe Mar

Adv Exp Med Biol· April 2012

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Transfusion in elderly patients with myocardial infarction.
Seth Perlman, David Moskowitz, Henry Bennett

N Engl J Med· March 2002

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