Abnormal motoneuron migration, differentiation, and axon outgrowth in spinal muscular atrophy [PDF]
, 2008 The role of heterotopic (migratory) motoneurons (HMN) in the pathogenesis of spinal muscular atrophy (SMA) is still controversial. We examined the occurrence and amount of HMN in spinal cord tissue from eight children with SMA (six with SMA-I and two ...
Barišić, Nina +10 more
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International Journal of Molecular Sciences, 2021 Spinal muscular atrophy (SMA) is a leading genetic cause of infant death worldwide that is characterized by loss of spinal motor neurons leading to muscle weakness and atrophy.
Matthew E. R. Butchbach
semanticscholar +1 more source
SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy [PDF]
, 2015 Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. The almost identical SMN2 gene is unable to compensate for this deficiency because of the skipping of exon 7 ...
Annalisa Nobili +51 more
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Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening [PDF]
, 2018 Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy.
Connolly, Anne +14 more
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Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study. [PDF]
, 2018 Peculiar cognitive profile of patients with SBMA has been described by fragmented literature. Our retrospective study reports the neuropsychological evaluations of a large cohort of patients in order to contribute towards the understanding of this field.
A. (2018)., +10 more
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Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy [PDF]
, 2016 Spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of SMN protein, primarily affecting lower motor neurons. Recent evidence from SMA and related conditions suggests that glial cells can influence disease severity.
Brophy, Peter J. +9 more
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Mitochondrial Dysfunction in Spinal Muscular Atrophy
International Journal of Molecular Sciences, 2022 Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder caused by recessive mutations in the SMN1 gene, globally affecting ~8–14 newborns per 100,000.
Eleonora Zilio, V. Piano, B. Wirth
semanticscholar +1 more source
IJU Case Reports, 2022 Introduction We report a prostate cancer case diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy which is a X‐linked recessive, lower motor neuron disease.
Atsuhi Yanase +9 more
doaj +1 more source
Rehabilitation in spinal muscular atrophy
Medycyna Ogólna i Nauki o Zdrowiu, 2021 Introduction and objective Spinal Muscular Atrophy (SMA) is a disease of the nervous system caused by the degeneration of motor neurons in the spinal cord. The disease is caused by a homozygous deletion of the motor neuron survival gene (SMN1),
Joanna Iłżecka
doaj +1 more source
Aberrant Autophagic Response in The Muscle of A Knock-in Mouse Model of Spinal and Bulbar Muscular Atrophy [PDF]
, 2015 Spinal and bulbar muscular atrophy (SBMA) is characterized by loss of motoneurons and sensory neurons, accompanied by atrophy of muscle cells. SBMA is due to an androgen receptor containing a polyglutamine tract (ARpolyQ) that misfolds and aggregates ...
Aggarwal, Tanya +15 more
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