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UnknownAnimal Models of CMT2A: State-of-art and Therapeutic Implications.
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S-EPMC7541381 | biostudies-literature
UnknowniPSC-Derived neural stem cells act via kinase inhibition to exert neuroprotective effects in spinal muscular atrophy with respiratory distress type 1.
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S-EPMC4176534 | biostudies-literature
UnknownIschemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation.
Not available
S-EPMC10123965 | biostudies-literature
UnknownCorrelation between clinical phenotype and electromyographic parameters in amyotrophic lateral sclerosis.
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S-EPMC9813173 | biostudies-literature
UnknownClinical and genetic features of a cohort of patients with MFN2-related neuropathy.
Not available
S-EPMC9008012 | biostudies-literature
UnknownA case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.
Not available
S-EPMC7648302 | biostudies-literature
UnknownDysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients.
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S-EPMC8198536 | biostudies-literature
UnknownInsights into the identification of a molecular signature for amyotrophic lateral sclerosis exploiting integrated microRNA profiling of iPSC-derived motor neurons and exosomes.
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S-EPMC8921154 | biostudies-literature
UnknownAssociation of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Not available
S-EPMC8406220 | biostudies-literature
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