Results 211 to 220 of about 840,189 (237)

Disease Modifying Therapies for the Management of Children with Spinal Muscular Atrophy (5q SMA): An Update on the Emerging Evidence

Drug Design, Development and Therapy, 2022
Thomas Sejersen
exaly  

Spinal Muscular Atrophy (SMA)

Operative Techniques in Orthopaedics
Kaitlyn Rodriguez, Mara Karamitopoulos
openaire   +2 more sources

Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA).

Clinical neuropathology, 1990
We report three siblings (two boys and girl) with familial (autosomal recessive) infantile olivopontocerebellar atrophy (OPCA) associated with lower motoneuron involvement. Brain autopsy findings in two of the children revealed a multisystem degeneration characterized by marked hypoplasia of phylogenetically new parts of the brain stem (basis pontis ...
S M, Chou, E F, Gilbert, R W, Chun, R, Laxova, G A, Tuffli, R L, Sufit, N, Krassikot   +6 more
openaire   +1 more source

SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals

Frontiers in Neurology, 2021
Swaroop Aradhya, Ana Morales, Sara Bristow   +2 more
exaly  

Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance

The Application of Clinical Genetics, 2021
Thomas W Prior
exaly  

Spinal Muscular Atrophy (SMA)

2022
openaire   +1 more source

Spinal Muscular Atrophy (SMA)

2019
openaire   +2 more sources

Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease)

Archives De Pediatrie, 2020
E Salort-Campana
exaly  

Risdiplam: an investigational survival motor neuron 2 (SMN2) splicing modifier for spinal muscular atrophy (SMA)

Expert Opinion on Investigational Drugs, 2022
Laurent Servais, Sithara Ramdas, Gemma Fisher   +2 more
exaly  

Spinal muscular atrophies (SMAs)

1985
openaire   +1 more source