Spinal muscular atrophy: from animal model to clinical trial

MD Edmar Zanoteli, UC Reed… - Functional …, 2010 - search.proquest.com
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by
degeneration and loss of lower motor neurons in the spinal cord and brainstem. Clinically …

Spinal muscular atrophy: a timely review

SJ Kolb, JT Kissel - Archives of neurology, 2011 - jamanetwork.com
Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by loss of
motor neurons in the anterior horn of the spinal cord and resultant weakness. The most …

Spinal muscular atrophy

J Vitte, R Attali, N Warwar, I Gurt, J Melki - … Diseases: Translation from …, 2009 - Springer
Spinal muscular atrophies (SMA) are frequent autosomal recessive disorders characterized
by degeneration of lower motor neurons. SMA are caused by mutations of the survival of …

Spinal muscular atrophy therapeutics development

SS Sunshine, J Jarecki, A MacKenzie, KS Chen - Spinal Muscular Atrophy, 2017 - Elsevier
Spinal muscular atrophy (SMA) is a devastating genetic disease caused by mutations in the
survival motor neuron 1 (SMN1) gene that encodes SMN protein. Since mid-1990s when the …

Spinal muscular atrophy: mechanisms and therapeutic strategies

CL Lorson, H Rindt, M Shababi - Human molecular genetics, 2010 - academic.oup.com
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder and
a leading genetic cause of infantile mortality. SMA is caused by mutation or deletion of …

Spinal muscular atrophy: recent advances and future prospects

S Nicole, CC Diaz, T Frugier… - Muscle & Nerve: Official …, 2002 - Wiley Online Library
Spinal muscular atrophies (SMA) are characterized by degeneration of lower motor neurons
associated with muscle paralysis and atrophy. Childhood SMA is a frequent recessive …

Spinal muscular atrophy: present state

H Schmalbruch, G Haase - Brain pathology, 2001 - Wiley Online Library
Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease caused by
homozygous deletions or mutations in the SMN1 gene on Chr. 5q13. SMA spans from …

Spinal muscular atrophy: advances in research and consensus on care of patients

CH Wang, MR Lunn - Current treatment options in neurology, 2008 - Springer
Opinion statement Spinal muscular atrophy (SMA) is an autosomal recessive disease
characterized by degeneration of spinal cord motor neurons and muscular atrophy …

Spinal muscular atrophy—new therapies, new challenges

M Jędrzejowska… - … i Neurochirurgia Polska, 2020 - journals.viamedica.pl
Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease with an
autosomal recessive trait of inheritance and great variability of its clinical course–from the …

Spinal muscular atrophy

E Mercuri, CJ Sumner, F Muntoni, BT Darras… - Nature Reviews …, 2022 - nature.com
Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in
SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads …