Publications by authors named "Seth J Perlman"

Claim this Profile
C
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Childhood Graves disease masquerading as myasthenia gravis.
Seth J Perlman, Craig M Zaidman

J Child Neurol· October 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Leukodystrophies.
Seth J Perlman, Soe Mar

Adv Exp Med Biol· April 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis