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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 cumulative estimated prevalence …
Hereditary motor neuropathies (HMN) were first defined as a group of neuromuscular disorders characterized by lower motor neuron dysfunction …
Senataxin, A Novel Helicase at the Interface of RNA Transcriptome Regulation and Neurobiology: From Normal Function to Pathological Roles in Motor Neuron Disease and Cerebellar Degeneration.
Bennett CL, La Spada AR. Bennett CL, et al. Adv Neurobiol. 2018;20:265-281. doi: 10.1007/978-3-319-89689-2_10. Adv Neurobiol. 2018. PMID: 29916023 Review.
Genetic discoveries have established the importance of SETX for neural function, as recessive mutations in the SETX gene cause Ataxia with Oculomotor Apraxia type 2 (AOA2) (OMIM: 606002), which is the third most common form of recessive ataxia, after Friedreich's at …
Genetic discoveries have established the importance of SETX for neural function, as recessive mutations in the SETX gene cause Ataxia with O …
Senataxin: A key actor in RNA metabolism, genome integrity and neurodegeneration.
Giannini M, Porrua O. Giannini M, et al. Biochimie. 2024 Feb;217:10-19. doi: 10.1016/j.biochi.2023.08.001. Epub 2023 Aug 7. Biochimie. 2024. PMID: 37558082 Review.
SETX has been the focus of numerous studies since the discovery that mutations in its coding gene are the root cause of two different neurodegenerative diseases: Ataxia with Oculomotor Apraxia type 2 (AOA2) and a juvenile form of Amyotrophic Lateral
SETX has been the focus of numerous studies since the discovery that mutations in its coding gene are the root cause of two different neurod …
The insulin-like growth factor signaling system and ALS neurotrophic factor treatment strategies.
Festoff BW, Yang SX, Vaught J, Bryan C, Ma JY. Festoff BW, et al. J Neurol Sci. 1995 May;129 Suppl:114-21. doi: 10.1016/0022-510x(95)00080-l. J Neurol Sci. 1995. PMID: 7595601 Review.
In addition, in type I diabetes significant increase in a circulating molecule that binds IGF-I, IGF-I binding protein 1 (IGFBP-1), occurs along with reduced IGF-I, when neuropathic complications are prominent. ...Studies related to the IGFBPs have not been done in familia …
In addition, in type I diabetes significant increase in a circulating molecule that binds IGF-I, IGF-I binding protein 1 (IGFBP-1), o …
[Juvenile and adult forms of spinal muscular atrophies].
Pou A. Pou A. Neurologia. 1996 Dec;11 Suppl 5:43-57. Neurologia. 1996. PMID: 9044573 Review. Spanish.
The genetic abnormality has been identified for only some forms, such as chronic bulbar-spinal amyotrophy linked to the X-chromosome, at whose location, Xq11, the androgenic receptor is found. C) Amyotrophic lateral sclerosis (ALS) manifests clinically in a v …
The genetic abnormality has been identified for only some forms, such as chronic bulbar-spinal amyotrophy linked to the X-chromosome, at who …