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Altered TDP‐43‐dependent splicing in HSPB8‐related distal hereditary motor neuropathy and myofibrillar myopathy - Cortese - 2018 - European Journal of Neurology - Wiley Online Library
Brain on X: "Jacquier et al. describe a new homozygous variant in the COQ7 gene in a family with distal hereditary motor neuropathy. They show that the variant affects coenzyme Q10 production,
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Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation | Experimental & Molecular Medicine
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Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants - ScienceDirect
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A family with distal hereditary motor neuropathy and a K141Q mutation of small heat shock protein HSPB1. | Semantic Scholar
Hereditary sensory motor polyneuropathy - Gabbasova - Pediatric Traumatology, Orthopaedics and Reconstructive Surgery
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Hereditary peripheral neuropathies diagnosed by next-generation sequencing | Tidsskrift for Den norske legeforening
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Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis | Practical Neurology
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Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy | Semantic Scholar
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