Results 311 to 320 of about 1,639,589 (408)

An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten. [PDF]

Sci Rep
Leinhos L, Robinson P, Poloni G, Broadway-Stringer S, Beglov J, Lokman AB, Douglas G, Nuthay S, Fonseka O, Schmid M, Singer E, Hooper C, Thomson K, Bagnall RD, Ingles J, Semsarian C, Ormondroyd E, Toepfer CN, Davies B, Redwood C, Watkins H, Gehmlich K.   +21 more
europepmc   +1 more source

Definition and Classification of Dystonia

Movement Disorders, EarlyView.
Abstract Dystonia is a movement disorder with varied clinical features and diverse etiologies. Here we present a revision of the 2013 consensus definition and classification of dystonia in light of subsequent publications and experience with its application during the last decade.
Alberto Albanese, Kailash P. Bhatia, Victor S.C. Fung, Mark Hallett, Joseph Jankovic, Christine Klein, Joachim K. Krauss, Anthony E. Lang, Jonathan W. Mink, Sanjay Pandey, Jan K. Teller, Marina A.J. Tijssen, Marie Vidailhet, H.A. Jinnah   +13 more
wiley   +1 more source

Atypical Presentation of an <i>LMNB1</i> Duplication Involving the Silencer Region: Beyond Classical Autosomal-Dominant Leukodystrophy. [PDF]

Neurol Genet
Wang JDJ, Kimball TN, Prapiadou S, Low XZ, Vijayan J, Chin HL, Tan BY.   +6 more
europepmc   +1 more source

Capture of Longitudinal Change in Real‐Life Walking in Cerebellar Ataxia Increases Patient Relevance and Effect Size

Movement Disorders, EarlyView.
ABSTRACT Background With disease‐modifying drugs for degenerative ataxias on the horizon, ecologically valid measures of gait performance that can detect patient‐relevant changes in trial‐like time frames are highly warranted. Objectives In this 2‐year longitudinal study, we aimed to unravel ataxic gait measures sensitive to longitudinal changes in ...
Jens Seemann, Theresa Beyme, Natalie John, Florian Harmuth, Martin Giese, Ludger Schöls, Dagmar Timmann, Matthis Synofzik, Winfried Ilg   +8 more
wiley   +1 more source

Autosomal Dominant Polycystic Kidney Disease Inflammation Biomarkers in the Tolvaptan Era. [PDF]

Int J Mol Sci
Lapão T, Barata R, Jorge C, Flores C, Calado J.   +4 more
europepmc   +1 more source

Peripheral Nervous System Involvement of Hereditary Transthyretin Amyloidosis in the United States: A Multi‐Center Perspective

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Hereditary transthyretin amyloidosis (ATTRv) is an autosomal dominant multisystem disorder that occurs worldwide. The most common mutation in the United States, V142I, has previously been described as having a primarily cardiac presentation.
Urvi Desai, Hristelina S. Ilieva, James E. Eyer, Amanda C. Peltier   +3 more
wiley   +1 more source

The impact of asymptomatic kidney stones on disease progression in autosomal dominant polycystic kidney disease. [PDF]

BMC Nephrol
Elcioglu OC, Yatci B, Ozturk BB, Mirioglu S, Gursu M, Kazancioglu R.   +5 more
europepmc   +1 more source

Vascular complications in autosomal dominant polycystic kidney disease

Nature Reviews Nephrology, 2015
R. Perrone, A. Malek, T. Watnick
semanticscholar   +1 more source

Comprehensive functional splicing analysis of non‐canonical CNGB3 variants using in vitro minigene splice assays

The Journal of Pathology, EarlyView.
Abstract Variants in the CNGB3 gene, encoding the B3‐subunit of the cone photoreceptor cyclic nucleotide gated channel, are a major cause of autosomal recessive achromatopsia, a rare inherited retinal disease. The mutation spectrum of achromatopsia‐associated CNGB3 variants comprises all types of mutations, including those that are straightforward to ...
Katharina Rawnsley, Nicole Weisschuh, Susanne Kohl, Peggy Reuter   +3 more
wiley   +1 more source