Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome

DM Sproule, P Kaufmann - Annals of the New York Academy of …, 2008 - Wiley Online Library
Since the initial description almost 25 years ago, the syndrome of mitochondrial
encephalopathy, lactic acidosis, and strokelike episodes (MELAS) has been a useful model …

[HTML][HTML] Single-dose gene-replacement therapy for spinal muscular atrophy

JR Mendell, S Al-Zaidy, R Shell… - … England Journal of …, 2017 - Mass Medical Soc
Background Spinal muscular atrophy type 1 (SMA1) is a progressive, monogenic motor
neuron disease with an onset during infancy that results in failure to achieve motor …

Observational study of spinal muscular atrophy type I and implications for clinical trials

RS Finkel, MP McDermott, P Kaufmann, BT Darras… - Neurology, 2014 - AAN Enterprises
Objectives: Prospective cohort study to characterize the clinical features and course of spinal
muscular atrophy type I (SMA-I). Methods: Patients were enrolled at 3 study sites and …

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label …

JW Day, RS Finkel, CA Chiriboga, AM Connolly… - The Lancet …, 2021 - thelancet.com
Background Spinal muscular atrophy type 1 is a motor neuron disorder resulting in death or
the need for permanent ventilation by age 2 years. We aimed to evaluate the safety and …

Prospective cohort study of spinal muscular atrophy types 2 and 3

P Kaufmann, MP McDermott, BT Darras, RS Finkel… - Neurology, 2012 - AAN Enterprises
Objective: To characterize the natural history of spinal muscular atrophy type 2 and type 3
(SMA 2/3) beyond 1 year and to report data on clinical and biological outcomes for use in …

[HTML][HTML] Impact of age and motor function in a phase 1/2A study of infants with SMA type 1 receiving single-dose gene replacement therapy

LP Lowes, LN Alfano, WD Arnold, R Shell, TW Prior… - Pediatric …, 2019 - Elsevier
Background This study characterizes motor function responses after early dosing of AVXS-
101 (onasemnogene abeparvovec) in gene replacement therapy in infants with severe …

Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis

BL Johnson‐Kerner, L Roth, JP Greene… - Muscle & …, 2014 - Wiley Online Library
Giant axonal neuropathy (GAN) is a rare pediatric neurodegenerative disease. It is best
known for the “giant” axons caused by accumulations of intermediate filaments. The disease …

Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue

G Thomsen, AHM Burghes, C Hsieh, J Do, BTT Chu… - Nature medicine, 2021 - nature.com
Spinal muscular atrophy type 1 (SMA1) is a debilitating neurodegenerative disease resulting
from survival motor neuron 1 gene (SMN1) deletion/mutation. Onasemnogene abeparvovec …

[HTML][HTML] AVXS-101 (onasemnogene abeparvovec) for SMA1: comparative study with a prospective natural history cohort

SA Al-Zaidy, SJ Kolb, L Lowes… - Journal of …, 2019 - content.iospress.com
Background: Spinal muscular atrophy type 1 (SMA1) is the leading genetic cause of infant
mortality for which therapies, including AVXS-101 (onasemnogene abeparvovec …

Health outcomes in spinal muscular atrophy type 1 following AVXS‐101 gene replacement therapy

S Al‐Zaidy, AS Pickard, K Kotha, LN Alfano… - Pediatric …, 2019 - Wiley Online Library
Abstract Background Spinal Muscular Atrophy type 1 (SMA1) is a rare genetic
neuromuscular disease where 75% of SMA1 patients die/require permanent‐ventilation by …