[HTML][HTML] Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease

UR Monani - Neuron, 2005 - cell.com
Spinal muscular atrophy (SMA) is a neurodegenerative disease in humans and the most
common genetic cause of infant mortality. The disease results in motor neuron loss and …

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 …

Is spinal muscular atrophy the result of defects in motor neuron processes?

M Briese, B Esmaeili, DB Sattelle - Bioessays, 2005 - Wiley Online Library
The hereditary neurodegenerative disease spinal muscular atrophy (SMA) with childhood
onset is one of the most common genetic causes of infant mortality. The disease is …

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 …

Molecular mechanisms of neurodegeneration in spinal muscular atrophy

S Ahmad, K Bhatia, A Kannan… - Journal of …, 2016 - journals.sagepub.com
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease with a high
incidence and is the most common genetic cause of infant mortality. SMA is primarily …

Is spinal muscular atrophy a disease of the motor neurons only: pathogenesis and therapeutic implications?

C Simone, A Ramirez, M Bucchia, P Rinchetti… - Cellular and molecular …, 2016 - Springer
Spinal muscular atrophy (SMA) is a genetic neurological disease that causes infant
mortality; no effective therapies are currently available. SMA is due to homozygous …

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 …

Time is motor neuron: therapeutic window and its correlation with pathogenetic mechanisms in spinal muscular atrophy

A Govoni, D Gagliardi, GP Comi, S Corti - Molecular neurobiology, 2018 - Springer
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder
characterized by the degeneration of lower motor neurons (MNs) in the spinal cord and …

Disease mechanisms and therapeutic approaches in spinal muscular atrophy

S Tisdale, L Pellizzoni - Journal of Neuroscience, 2015 - Soc Neuroscience
Motor neuron diseases are neurological disorders characterized primarily by the
degeneration of spinal motor neurons, skeletal muscle atrophy, and debilitating and often …

Spinal muscular atrophy: from gene discovery to clinical trials

DK Nurputra, PS Lai, NIF Harahap… - Annals of human …, 2013 - Wiley Online Library
Spinal muscular atrophy (SMA) is a common neuromuscular disorder with autosomal
recessive inheritance, resulting in the degeneration of motor neurons. The incidence of the …