Results 191 to 200 of about 84,457 (246)

Combinatory Treatment to Alleviate Cellular Stress and Improve Skeletal Muscle Phenotype in Spinal Muscular Atrophy. [PDF]

Circ Res
Zeng W, Kong X, Caudal A, Zhao SR, Alamana C, Melesio J, Ren L, Guzman J, Pang PD, Howell K, Chen KS, Day JW, Wu JC.   +12 more
europepmc   +1 more source

Advancing personalized spinal muscular atrophy care: matching the right biomarker to the right patient at the right time. [PDF]

J Neurol
Corti S, Ottoboni L, Sansone V.
europepmc   +1 more source

Pediatric acute respiratory distress syndrome in children with type I - spinal muscular atrophy: a 12-year case series. [PDF]

Eur J Pediatr
Piastra M, Zito G, Orr AM, Picconi E, Ferrari V, Pezza L, Marzano L, Morena TC, De Rosa G, Onesimo R, Fedele MC, Tempera A, Genovese O, Racca F, Varone A, Spinazzola G, De Luca D, De Sanctis R, Pane M, Mercuri E, Conti G.   +20 more
europepmc   +1 more source

Ketosis-prone Diabetes as a Presentation of New-onset Diabetes in a Patient With Spinal Muscular Atrophy Type III. [PDF]

JCEM Case Rep
Thewjitcharoen Y, Nakasatien S, Kulkantrakorn K, Himathongkam T.   +3 more
europepmc   +1 more source

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Spinal Muscular Atrophy

Current Neurology and Neuroscience Reports, 2004
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Stephen A. Smith, Susan T. Iannaccone, Louise R. Simard   +2 more
  +9 more sources

Spinal Muscular Atrophy

Seminars in Pediatric Neurology, 2021
Spinal muscular atrophy is one of the most common neuromuscular disorders of childhood and has high morbidity and mortality. Three different disease-modifying treatments were introduced in the last 4 years: nusinersen, onasemnogene abeparvovec, and risdiplam.
Stefan Nicolau, Anne M. Connolly, Jerry R. Mendell, Megan A. Waldrop   +3 more
openaire   +3 more sources

Spinal muscular atrophy

Journal of Paediatrics and Child Health, 2018
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. The SMN protein plays a critical role in spliceosome assembly and may have other cellular functions, such as mRNA transport ...
Kenneth H. Fischbeck, Eveline S. Arnold
  +8 more sources