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Notch Pathway and Inherited Diseases: Challenge and Promise.
Reichrath J, Reichrath S. Reichrath J, et al. Adv Exp Med Biol. 2020;1218:159-187. doi: 10.1007/978-3-030-34436-8_9. Adv Exp Med Biol. 2020. PMID: 32060876 Review.
Consequently, a broad variety of independent inherited diseases linked to defective Notch signaling has now been identified, including Alagille, Adams-Oliver, and Hajdu-Cheney syndromes, CADASIL (cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephal …
Consequently, a broad variety of independent inherited diseases linked to defective Notch signaling has now been identified, including Alagi …
Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients.
Ardissone A, Ferrera G, Lamperti C, Tiranti V, Ghezzi D, Moroni I, Lamantea E. Ardissone A, et al. Eur J Neurol. 2023 Jul;30(7):2079-2091. doi: 10.1111/ene.15814. Epub 2023 Apr 25. Eur J Neurol. 2023. PMID: 37038312 Free article. Review.
Furthermore, we report for the first time an mtDNA pathogenic variant associated with cavitating leukodystrophy. CONCLUSIONS: We report on a large cohort of pediatric patients with mtDNA defects, adding new data on the phenotypical characterization of mtDNA defects …
Furthermore, we report for the first time an mtDNA pathogenic variant associated with cavitating leukodystrophy. CONCLUSIONS: …
[CACH/VWM syndrome and leucodystrophies related to EIF2B mutations].
Labauge P, Fogli A, Niel F, Rodriguez D, Boespflug-Tanguy O. Labauge P, et al. Rev Neurol (Paris). 2007 Sep;163(8-9):793-9. doi: 10.1016/s0035-3787(07)91461-7. Rev Neurol (Paris). 2007. PMID: 17878805 Review. French.
Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on c …
Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by ep …
[Sudanophilic cavitating leukodystrophy: adult familial form].
Luzardo-Small G, Méndez-Martínez O, Molina-Viloria O, Cardozo-Durán J. Luzardo-Small G, et al. Invest Clin. 1995 Mar;36(1):31-40. Invest Clin. 1995. PMID: 7779943 Review. Spanish.
Sudanophilic cavitating leukodystrophy is an unusual disorder of the cerebral white matter, clinically characterized by deafness, mental retardation, behavioural alterations and lesions of the descending long tracts. Neuropathological features include: extensive sub …
Sudanophilic cavitating leukodystrophy is an unusual disorder of the cerebral white matter, clinically characterized by deafne …