Results 121 to 130 of about 1,670 (170)

Spinal muscular atrophy type 1: A fatal case in a 1‐year‐old girl with delayed diagnosis

open access: yesClinical Case Reports
Key Clinical Message Spinal muscular atrophy (SMA) is a growing clinical concern, necessitating higher awareness and early detection. This case study focuses on the difficulties and advances in detecting and treating SMA. It emphasizes the value of early
Saira Batool Rizvi   +6 more
doaj   +1 more source

CO108 Longitudinal Trends in Hospitalization Rates in Patients with Later-Onset Spinal Muscular Atrophy (SMA) Treated with Nusinersen up to 4.5 Years: Results from the Cherish and Shine Studies

open access: bronze, 2023
Tao Jiang   +8 more
openalex   +1 more source

A Comprehensive Review of Spinal Muscular Atrophy (Sma): Treatment Strategies

open access: yes
Spinal muscular atrophy (SMA), a rare genetic disorder causing progressive muscle weakness due to SMN1 gene mutations, affects approximately 1 in 10,000 live births and historically lacked disease-modifying treatments. The approval of Spinraza (nusinersen) with the aid of the FDA in 2016 marked a paradigm shift because the first therapy for SMA ...
openaire   +2 more sources

Schwann cell pathology in spinal muscular atrophy (SMA)

open access: yes, 2015
The childhood neuromuscular disease spinal muscular atrophy (SMA) is caused by low levels of survival motor neuron (SMN) protein. Historically, SMA has been characterised as a disease primarily affecting lower motor neurons. However, recent breakthroughs have revealed defects in other non-neuronal cells and tissues. In vivo analysis of peripheral nerve
openaire   +1 more source

An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA) [PDF]

open access: bronze, 2000
Claudia Helmken   +5 more
openalex   +1 more source

Recent Progress in the Identification of the X-Linked Infantile Spinal Muscular Atrophy (Xl-SMA) Gene: Implications for Neuronal Apoptosis [PDF]

open access: gold, 2001
L. Baumbach   +7 more
openalex   +1 more source

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