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88 results

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Spinal muscular atrophy.
D'Amico A, Mercuri E, Tiziano FD, Bertini E. D'Amico A, et al. Orphanet J Rare Dis. 2011 Nov 2;6:71. doi: 10.1186/1750-1172-6-71. Orphanet J Rare Dis. 2011. PMID: 22047105 Free PMC article. Review.
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. ...This disease is characteri …
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha mo …
Spinal muscular atrophy: diagnosis and management in a new therapeutic era.
Arnold WD, Kassar D, Kissel JT. Arnold WD, et al. Muscle Nerve. 2015 Feb;51(2):157-67. doi: 10.1002/mus.24497. Epub 2014 Dec 16. Muscle Nerve. 2015. PMID: 25346245 Free PMC article. Review.
Spinal muscular atrophy (SMA) describes a group of disorders associated with spinal motor neuron loss. In this review we provide an update regarding the most common form of SMA, proximal or 5q-SMA, and discuss the contemporary approach to diagno …
Spinal muscular atrophy (SMA) describes a group of disorders associated with spinal motor neuron loss. In this r …
Muscle type and fiber type specificity in muscle wasting.
Ciciliot S, Rossi AC, Dyar KA, Blaauw B, Schiaffino S. Ciciliot S, et al. Int J Biochem Cell Biol. 2013 Oct;45(10):2191-9. doi: 10.1016/j.biocel.2013.05.016. Epub 2013 May 21. Int J Biochem Cell Biol. 2013. PMID: 23702032 Review.
In most of these conditions, the loss of muscle tissue is not homogeneous, but involves specific muscle groups, for example Duchenne muscular dystrophy affects most body muscles but spares extraocular muscles, and other dystrophies affect selectively proximal or dis …
In most of these conditions, the loss of muscle tissue is not homogeneous, but involves specific muscle groups, for example Duchenne musc …
Respiratory management of children with spinal muscular atrophy (SMA).
Fauroux B, Griffon L, Amaddeo A, Stremler N, Mazenq J, Khirani S, Baravalle-Einaudi M. Fauroux B, et al. Arch Pediatr. 2020 Dec;27(7S):7S29-7S34. doi: 10.1016/S0929-693X(20)30274-8. Arch Pediatr. 2020. PMID: 33357594 Review.
Spinal muscular atrophy (SMA) causes a predominantly bilateral proximal muscle weakness and atrophy. ...
Spinal muscular atrophy (SMA) causes a predominantly bilateral proximal muscle weakness and atrophy. ...
Spinal muscular atrophy.
Arnold ES, Fischbeck KH. Arnold ES, et al. Handb Clin Neurol. 2018;148:591-601. doi: 10.1016/B978-0-444-64076-5.00038-7. Handb Clin Neurol. 2018. PMID: 29478602 Review.
Autosomal-recessive proximal spinal muscular atrophy (Werdnig-Hoffmann, Kugelberg-Welander) is caused by mutation of the SMN1 gene, and the clinical severity correlates with the number of copies of a nearly identical gene, SMN2. ...
Autosomal-recessive proximal spinal muscular atrophy (Werdnig-Hoffmann, Kugelberg-Welander) is caused by mutatio …
Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review.
Pinto WBVR, Souza PVS, Badia BML, Farias IB, Albuquerque Filho JMV, Gonçalves EA, Machado RIL, Oliveira ASB. Pinto WBVR, et al. Arq Neuropsiquiatr. 2021 Oct;79(10):912-923. doi: 10.1590/0004-282X-ANP-2020-0429. Arq Neuropsiquiatr. 2021. PMID: 34706022 Free article. Review.
BACKGROUND: Adult-onset spinal muscular atrophy (SMA) represents an expanding group of inherited neurodegenerative disorders in clinical practice. OBJECTIVE: This review aims to synthesize the main clinical, genetic, radiological, biochemical, and neurophysio …
BACKGROUND: Adult-onset spinal muscular atrophy (SMA) represents an expanding group of inherited neurodegenerative diso …
Spinal and bulbar muscular atrophy.
Lieberman AP. Lieberman AP. Handb Clin Neurol. 2018;148:625-632. doi: 10.1016/B978-0-444-64076-5.00040-5. Handb Clin Neurol. 2018. PMID: 29478604 Review.
Spinal and bulbar muscular atrophy (SBMA) is an adult-onset degenerative disorder of the neuromuscular system resulting in slowly progressive weakness and atrophy of the proximal limb and bulbar muscles. ...Studies of the pathology of SBMA subje …
Spinal and bulbar muscular atrophy (SBMA) is an adult-onset degenerative disorder of the neuromuscular system resulting …
Childhood spinal muscular atrophy.
Younger DS, Mendell JR. Younger DS, et al. Handb Clin Neurol. 2023;196:43-58. doi: 10.1016/B978-0-323-98817-9.00030-2. Handb Clin Neurol. 2023. PMID: 37620083 Review.
Spinal muscular atrophy (SMA) is caused by biallelic mutations in the SMN1 (survival motor neuron 1) gene on chromosome 5q13.2, which leads to a progressive degeneration of alpha motor neurons in the spinal cord and in motor nerve nuclei in the caudal …
Spinal muscular atrophy (SMA) is caused by biallelic mutations in the SMN1 (survival motor neuron 1) gene on chromosome …
Benign focal amyotrophy.
Cintas P. Cintas P. Rev Neurol (Paris). 2017 May;173(5):338-344. doi: 10.1016/j.neurol.2017.03.016. Epub 2017 Apr 24. Rev Neurol (Paris). 2017. PMID: 28449880 Review.
In juvenile distal upper-limbs forms, specific MRI signs with in particular a compression of the spinal cord by forward displacement of dura, lead to evoke a mechanical process. In other forms, occurring later in the life, affecting proximal part of upper limbs or l …
In juvenile distal upper-limbs forms, specific MRI signs with in particular a compression of the spinal cord by forward displacement …
Spinal muscular atrophies.
Darras BT. Darras BT. Pediatr Clin North Am. 2015 Jun;62(3):743-66. doi: 10.1016/j.pcl.2015.03.010. Epub 2015 Apr 11. Pediatr Clin North Am. 2015. PMID: 26022173 Review.
Spinal muscular atrophies (SMAs) are hereditary degenerative disorders of lower motor neurons associated with progressive muscle weakness and atrophy. Proximal 5q SMA is caused by decreased levels of the survival of motor neuron (SMN) protein and is th …
Spinal muscular atrophies (SMAs) are hereditary degenerative disorders of lower motor neurons associated with progressive musc …
88 results