Results 251 to 260 of about 20,899 (290)

15.33 AVXS-101 in presymptomatic spinal muscular atrophy (SMA)

Journal of Neurology, Neurosurgery & Psychiatry, 2019
BackgroundOnasemnogene abeparvovec (AVXS-101) is a gene-replacement therapy that treats the genetic root cause of SMA, biallelic survival motor neuron 1 gene (SMN1) deletion/mutation. In a phase 1 study, AVXS-101 improved survival and motor function of symptomatic SMA type 1 patients.
Kevin A Strauss, Kathryn J Swoboda, Michelle A Farrar, Hugh J McMillan, Julie Parsons, Jena M Krueger, Susan T Iannaccone, Claudia A Chiriboga, Jennifer M Kwon, Kayoko Saito, Mariacristina Scoto, Imran Kausar, Meredith Schultz, Elaine Kernbauer, Marcia Farrow, Francis G Ogrinc, Sarah Kavanagh, Douglas E Feltner, Bryan E McGill, Sidney A Spector, James L’Italien, Douglas M Sproule, Francesco Muntoni   +22 more
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Therapeutic Strategies for the Treatment of Spinal Muscular Atrophy (SMA) Disease

Current Genomics, 2006
Spinal Muscular Atrophy (SMA) is a progressive neurodegenerative disorder characterised by the loss of upper and/or lower motor neurons. SMA is the leading genetic cause of infant mortality with an incidence of 1 in 6000 live births and a carrier frequency of about 1 in 50.
SANGIUOLO, FEDERICA CARLA, BOTTA, ANNALISA, FILARETO, ANTONIO, SPITALIERI, PAOLA, NOVELLI, GIUSEPPE   +4 more
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Molecular prenatal diagnosis of autosomal recessive childhood spinal muscular atrophies (SMAs)

Gene, 2012
Autosomal recessive childhood spinal muscular atrophy (SMAs) is the second most common neuromuscular disorder and a common cause of infant disability and mortality. SMA patients are classified into three clinical types based on age of onset, and severity of symptoms.
Mona L, Essawi, Ghada M, Al-Attribi, Khaled R, Gaber, Ashraf A, El-Harouni   +3 more
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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
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Spinal Muscular Atrophy (SMA)

2021
Rebecca Folkerth, Steven A. Moore
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Spinal muscular atrophy (SMA)

2005
Helen V. Firth, Jane A. Hurst, Judith G. Hall   +2 more
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Oncologic emergencies and urgencies: A comprehensive review

Ca-A Cancer Journal for Clinicians, 2022
Bonnie Gould Rothberg, David E Gerber, Jason J Bischof   +2 more
exaly  

Drug delivery to the central nervous system

Nature Reviews Materials, 2021
, Suzie H Pun
exaly  

Regulation of axonal regeneration after mammalian spinal cord injury

Nature Reviews Molecular Cell Biology, 2023
Binhai Zheng, Mark H Tuszynski
exaly  

The genetic heterogeneity of spinal muscular atrophy (SMA).

Birth defects original article series, 1975
The clinical picture of the spinal muscular atrophy varies greatly with respect to age of onset, speed of progression, severity and distribution of muscular atrophy, weakness and contractures, yet cases occurring within a family usually show concordant clinical features. Thus, genetic heterogeneity has to be assumed.
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