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Quoted phrase not found in phrase index: "Neuronopathy, distal hereditary motor, autosomal recessive 3"
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Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.
Zambon AA, Pini V, Bosco L, Falzone YM, Munot P, Muntoni F, Previtali SC. Zambon AA, et al. Brain. 2023 Mar 1;146(3):806-822. doi: 10.1093/brain/awac452. Brain. 2023. PMID: 36445400 Free PMC article. Review.
Hereditary motor neuropathies (HMN) were first defined as a group of neuromuscular disorders characterized by lower motor neuron dysfunction, slowly progressive length-dependent distal muscle weakness and atrophy, without sensory involvement. Their cum …
Hereditary motor neuropathies (HMN) were first defined as a group of neuromuscular disorders characterized by lower motor …
Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation.
Ververis A, Dajani R, Koutsou P, Aloqaily A, Nelson-Williams C, Loring E, Arafat A, Mubaidin AF, Horany K, Bader MB, Al-Baho Y, Ali B, Muhtaseb A, DeSpenza T Jr, Al-Qudah AA, Middleton LT, Zamba-Papanicolaou E, Lifton R, Christodoulou K. Ververis A, et al. J Med Genet. 2020 Mar;57(3):178-186. doi: 10.1136/jmedgenet-2019-106108. Epub 2019 Sep 11. J Med Genet. 2020. PMID: 31511340 Free PMC article.
BACKGROUND: Distal hereditary motor neuronopathies (dHMN) are a group of genetic disorders characterised by motor neuron degeneration leading to muscle weakness that are caused by mutations in various genes. ...This finding is in agreement with …
BACKGROUND: Distal hereditary motor neuronopathies (dHMN) are a group of genetic disorders characterised by m …