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Quoted phrase not found in phrase index: "X-linked progressive cerebellar ataxia"
Page 1
Cerebellar ataxias: an update.
Manto M, Gandini J, Feil K, Strupp M. Manto M, et al. Curr Opin Neurol. 2020 Feb;33(1):150-160. doi: 10.1097/WCO.0000000000000774. Curr Opin Neurol. 2020. PMID: 31789706 Review.
It is now established that the basal ganglia and cerebellum, two major subcortical nodes, are linked by disynaptic pathways ensuring bidirectional communication. Inherited ataxias include autosomal recessive cerebellar ataxias (ARCAs), autosomal dominant spinocerebellar at …
It is now established that the basal ganglia and cerebellum, two major subcortical nodes, are linked by disynaptic pathways ensuring bidirec …
Hereditary ataxias.
Evidente VG, Gwinn-Hardy KA, Caviness JN, Gilman S. Evidente VG, et al. Mayo Clin Proc. 2000 May;75(5):475-90. doi: 10.4065/75.5.475. Mayo Clin Proc. 2000. PMID: 10807077 Review.
There are many causes of hereditary ataxia. These can be grouped into categories of autosomal recessive, autosomal dominant, and X-linked. ...No effective treatment is yet available for most ataxic syndromes, except for ataxia with isolated vitamin E d …
There are many causes of hereditary ataxia. These can be grouped into categories of autosomal recessive, autosomal dominant, and X …
Current concepts in the treatment of hereditary ataxias.
Braga Neto P, Pedroso JL, Kuo SH, Marcondes Junior CF, Teive HA, Barsottini OG. Braga Neto P, et al. Arq Neuropsiquiatr. 2016 Mar;74(3):244-52. doi: 10.1590/0004-282X20160038. Arq Neuropsiquiatr. 2016. PMID: 27050855 Free PMC article. Review.
Hereditary ataxias (HA) represents an extensive group of clinically and genetically heterogeneous neurodegenerative diseases, characterized by progressive ataxia combined with extra-cerebellar and multi-systemic involvements, including peripheral neuropathy, …
Hereditary ataxias (HA) represents an extensive group of clinically and genetically heterogeneous neurodegenerative diseases, characterized …
Machado-Joseph disease and other rare spinocerebellar ataxias.
Matilla-Dueñas A. Matilla-Dueñas A. Adv Exp Med Biol. 2012;724:172-88. doi: 10.1007/978-1-4614-0653-2_14. Adv Exp Med Biol. 2012. PMID: 22411243 Review.
The scope of this chapter is to provide an updated information on Machado-Joseph disease (MJD), the most frequent SCA subtype worldwide and other rare spinocerebellar ataxias including dentatorubral-pallidoluysian atrophy (DRPLA), the X-linked fragile X tremo …
The scope of this chapter is to provide an updated information on Machado-Joseph disease (MJD), the most frequent SCA subtype worldwi …
Joubert syndrome: congenital cerebellar ataxia with the molar tooth.
Romani M, Micalizzi A, Valente EM. Romani M, et al. Lancet Neurol. 2013 Sep;12(9):894-905. doi: 10.1016/S1474-4422(13)70136-4. Epub 2013 Jul 17. Lancet Neurol. 2013. PMID: 23870701 Free PMC article. Review.
Joubert syndrome is a congenital cerebellar ataxia with autosomal recessive or X-linked inheritance, the diagnostic hallmark of which is a unique cerebellar and brainstem malformation recognisable on brain imaging-the so-called molar tooth sign. …
Joubert syndrome is a congenital cerebellar ataxia with autosomal recessive or X-linked inheritance, the diagnos …
Molecular genetics of hereditary ataxias.
Banfi S, Zoghbi HY. Banfi S, et al. Baillieres Clin Neurol. 1994 Aug;3(2):281-95. Baillieres Clin Neurol. 1994. PMID: 7952848 Review.
The patterns of inheritance observed in ataxias include autosomal dominant, autosomal recessive and X-linked. Friedreich's ataxia, the most frequent form among the recessive ataxias, has been mapped to the long arm of chromosome 9 based on close linkage to th …
The patterns of inheritance observed in ataxias include autosomal dominant, autosomal recessive and X-linked. Friedreich's …
Genetic immunodeficiencies: cutaneous manifestations and recent progress.
Arbiser JL. Arbiser JL. J Am Acad Dermatol. 1995 Jul;33(1):82-9. doi: 10.1016/0190-9622(95)90016-0. J Am Acad Dermatol. 1995. PMID: 7601952 Review.
In recent years, remarkable progress has been made in elucidating the pathophysiology of genetic immunodeficiency disorders. Dermatologic manifestations are prominent in these conditions; because of advances in diagnosis and therapy, patients are living longer, increasing …
In recent years, remarkable progress has been made in elucidating the pathophysiology of genetic immunodeficiency disorders. Dermatol …
Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome.
Wang C, Lin Z, Yuan Z, Tang T, Fan L, Liu Y, Wu X. Wang C, et al. Hereditas. 2023 May 12;160(1):22. doi: 10.1186/s41065-023-00282-z. Hereditas. 2023. PMID: 37173762 Free PMC article.
Charcot-Marie-Tooth disease(CMT) is a hereditary peripheral neuropathy, characterized by progressive distal hypoesthesia and amyotrophia. CMT is characterized by an X- linked recessive inheritance pattern. The apoptosis-inducing factor mitochondria ass …
Charcot-Marie-Tooth disease(CMT) is a hereditary peripheral neuropathy, characterized by progressive distal hypoesthesia and a …
Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin.
Heimer G, Eyal E, Zhu X, Ruzzo EK, Marek-Yagel D, Sagiv D, Anikster Y, Reznik-Wolf H, Pras E, Oz Levi D, Lancet D, Ben-Zeev B, Nissenkorn A. Heimer G, et al. Eur J Paediatr Neurol. 2018 Jan;22(1):93-101. doi: 10.1016/j.ejpn.2017.09.004. Epub 2017 Sep 15. Eur J Paediatr Neurol. 2018. PMID: 28967629
RESULTS: Patient 1 presented at the age of 5 years with auditory neuropathy, followed by progressive ataxia, vermian atrophy and axonal neuropathy. Patient 2 presented at the age of 4.5 years with severe limb and palatal myoclonus, followed by ataxia, cere …
RESULTS: Patient 1 presented at the age of 5 years with auditory neuropathy, followed by progressive ataxia, vermian atrophy a …
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.
Pescosolido MF, Stein DM, Schmidt M, El Achkar CM, Sabbagh M, Rogg JM, Tantravahi U, McLean RL, Liu JS, Poduri A, Morrow EM. Pescosolido MF, et al. Ann Neurol. 2014 Oct;76(4):581-93. doi: 10.1002/ana.24225. Epub 2014 Sep 19. Ann Neurol. 2014. PMID: 25044251 Free PMC article.
OBJECTIVE: Recently, Christianson syndrome (CS) has been determined to be caused by mutations in the X-linked Na(+) /H(+) exchanger 6 (NHE6). We aimed to determine the diagnostic criteria and mutational spectrum for CS. ...All CS participants were nonverbal and had …
OBJECTIVE: Recently, Christianson syndrome (CS) has been determined to be caused by mutations in the X-linked Na(+) /H(+) exch …
21 results