2020 Abstract Search

Accurate Test of Limb Isometric Strength (ATLIS) as an Outcome Measure in Upper Motor Neuron…

44

Outcome measures in amyotrophic lateral sclerosis (ALS) clinical trials rely mostly on changes…

Acute Intermittent Hypoxia and Heart Rate Variability in Amyotrophic Lateral Sclerosis

13

Heart rate variability (HRV) is the fluctuation of the time intervals between heartbeats. The…

Aerobic exercise training improves muscle function in a murine model of FSHD

221

Background: Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder caused by…

Alteration of muscle function in a tpm3 zebrafish model of Tropomyosin Congenital Myopathy

208

Tropomyosin Congenital Myopathy (TCM) is an early-onset muscular disorder due to mutations on…

Amyotrophic Lateral Sclerosis in a Young Patient with Cystinosis

2

We report a case of a 30-year-old man with infantile form cystinosis , an autosomal recessive…

An Open-Label, Single-Arm Phase 2 Trial Evaluating Pamrevlumab in Non-Ambulatory Subjects with…

61

Duchenne muscular dystrophy (DMD) is one of the most common childhood neuromuscular diseases,…

An unbiased approach to identify network disruptions and remodeling in the motor system of ALS…

235

Amyotrophic lateral sclerosis (ALS) is a progressive, fatal motor neuron disease characterized…

ASPIRO Phase 1/2 Gene Therapy Trial In X-Linked Myotubular Myopathy (XLMTM): Update on…

31

BACKGROUND: XLMTM, caused by mutations in the MTM1 gene, is characterized by profound muscle…

Assessment of SIPA1L2 as a candidate modifier of CMT1A identified in human GWAS

212

A case-only genome-wide analysis of CMT1A patients found four intronic SNPs in signal-induced…