Results 131 to 140 of about 608,413 (188)

Longitudinal spinal cord MRI in adult 5q-SMA: biomarker and pathophysiological insights. [PDF]

J Neurol
da Graça FF, de Rezende TJR, Iwabe C, González-Salazar C, de Holanda Mendonça R, Zanoteli E, França-Jr MC.   +6 more
europepmc   +1 more source

Laboratory diagnostics in personalised medicine - 36th Symposium of the Croatian society of medical biochemistry and laboratory medicine. [PDF]

Biochem Med (Zagreb)
Rogić D, Šimičević L, Žigman T, Bambir I, Vukić Dugac A, Tješić-Drinković D, Fumić K, Lehman I, Rako I, Popović M, Ganoci L, Živković M, Mihaljević-Peleš A.   +12 more
europepmc   +1 more source

Decremental responses following repetitive nerve stimulation in spinal and bulbar muscular atrophy. [PDF]

Clin Neurophysiol Pract
Tachiyama K, Nakamori M, Fujii Y, Hokkoku K, Agari D, Hemmi S, Nomura E, Hatanaka Y, Kurokawa K, Sonoo M, Maruyama H.   +10 more
europepmc   +1 more source

Spinal muscular atrophy type I in a 3.5-month-old male infant: A case report. [PDF]

Medicine (Baltimore)
Nawaz RN, Asjad W, Bashir R, Saeed SAA, Tayyab MZ, Khalid M.   +5 more
europepmc   +1 more source

Spinal Muscular Atrophy [PDF]

Neurologic Clinics, 2015
Spinal muscular atrophy is an autosomal-recessive disorder characterized by degeneration of motor neurons in the spinal cord and caused by mutations in the survival motor neuron 1 gene, SMN1. The severity of SMA is variable. The SMN2 gene produces a fraction of the SMN messenger RNA (mRNA) transcript produced by the SMN1 gene.
Stephen J Kolb, John T Kissel
exaly   +5 more sources

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Spinal Muscular Atrophy

Continuum, 2020
This article provides an overview of the pathophysiology and clinical presentations of spinal muscular atrophy (SMA) and reviews therapeutic developments, including US Food and Drug Administration (FDA)-approved gene-targeted therapies and mainstays of supportive SMA care.Over the past decades, an understanding of the role of SMN protein in the ...
Haluk, Topaloglu, Nancy, Kuntz
openaire   +4 more sources

Spinal Muscular Atrophy

Current Neurology and Neuroscience Reports, 2004
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Susan T, Iannaccone, Stephen A, Smith, Louise R, Simard   +2 more
openaire   +5 more sources