Results 61 to 70 of about 1,639,589 (408)
Familial Hypokalemic Periodic Paralysis: A Case Report [PDF]
Düzce Tıp Fakültesi Dergisi, 2010 Familial hypokalemic periodic paralysis is an autosomal dominantly inherited congenital diseasecharacterized by intermittent attacks of muscle weakness lasting for a few hours to a few daysand occurring a few times a year or once a day.
Semih KORKUT, Hayati KANDİŞ, Harun GÜNEŞ, Esin KORKUT
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Non\u2011syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene [PDF]
, 2017 Autosomal dominant optic atrophy (DOA) is the most frequent form of hereditary optic atrophy, a disease presenting with considerable inter- and intra-familial clinical variability.
Colavito, Davide +9 more
core +1 more source
Brain : a journal of neurology, 2016 See Schott and Fox (doi: 10.1093/brain/awv405 ) for a scientific commentary on this article. The relationships between pathophysiological processes in Alzheimer’s disease remain largely unclear. In a longitudinal, multitracer PET study, Rodriguez-Vieitez
E. Rodriguez-Vieitez +11 more
semanticscholar +1 more source
FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier +20 more
wiley +1 more source
Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations
Frontiers in Genetics, 2022 B3GALT6 is a well-documented disease-related gene. Several B3GALT6-recessive variants have been reported to cause Ehlers–Danlos syndrome (EDS). To the best of our knowledge, no dominant B3GALT6 variant that causes human disease has been reported. In 2012,
Fang Shen +8 more
doaj +1 more source
Benign recurrent intrahepatic cholestasis : report of two local cases [PDF]
, 2008 Benign Recurrent Intrahepatic Cholestasis (BRIC) is a rare disorder characterized by recurrent episodes of cholestasis without permanent liver damage.
Andrejevic, Hermoine +2 more
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Autosomal Dominant Tubulointerstitial Kidney Disease.
Advances in Chronic Kidney Disease, 2017 There are 3 major forms of autosomal dominant tubulointerstitial kidney disease (ADTKD): ADTKD due to UMOD mutations, MUC1 mutations, and mutations in the REN gene encoding renin.
A. Bleyer +3 more
semanticscholar +1 more source
Early Language Impairment as an Integral Part of the Cognitive Phenotype in Huntington's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Huntington's disease (HD) speech/language disorders have typically been attributed to motor and executive impairment due to striatal dysfunction. In‐depth study of linguistic skills and the role of extrastriatal structures in HD is scarce.
Arnau Puig‐Davi +13 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra +17 more
wiley +1 more source
Chinese clinical practice guide for autosomal dominant polycystic kidney disease
Linchuang shenzangbing zazhi, 2019 常染色体显性多囊肾病(autosomal dominant polycystic kidney disease, ADPKD)是最常见的遗传性肾病,患病率为1/400～1/1000[1]。ADPKD主要致病基因有两个,PKD1和PKD2,其突变导致疾病分别约占发病人群的85%和15%[2-3]。该病为常染色体显性遗传病,子代发病机率为50%。患者多在成年后出现双侧肾脏囊肿,随年龄增长,逐渐损害肾脏结构和功能[4 ...
Expert Committee on Clinical Practice Guidelines for Autosomal Dominant Polycystic Kidney Disease
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