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Hubert Kwieciński

Researcher at Medical University of Warsaw

Publications -  100
Citations -  3407

Hubert Kwieciński is an academic researcher from Medical University of Warsaw. The author has contributed to research in topics: Amyotrophic lateral sclerosis & Myotonia. The author has an hindex of 24, co-authored 100 publications receiving 3156 citations. Previous affiliations of Hubert Kwieciński include Gdańsk Medical University.

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Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)

Martin Tristani-Firouzi, +12 more
- 01 Aug 2002 - 
TL;DR: The functional consequences of three novel and seven previously described KCNJ2 mutations using a two-microelectrode voltage-clamp technique and correlated the findings with the clinical phenotype suggest that the substrate for arrhythmia susceptibility in AS is distinct from the other forms of inherited LQT syndrome.
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Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

Louis J. Ptáček, +12 more
- 17 Jun 1994 - 
TL;DR: In this paper, a dihydropyridine (DHP) receptor gene was identified as the hypokalemic periodic paralysis (hypoKPP) gene, which is an autosomal dominant skeletal muscle disorder with low serum potassium.
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Correlating phenotype and genotype in the periodic paralyses

Timothy M. Miller, +14 more
- 09 Nov 2004 - 
TL;DR: This series of 226 patients (127 kindreds) confirms some clinical features of this disorder with notable exceptions: in this series, patients without mutations had a less typical clinical presentation including an older age at onset, no changes in diet as a precipitant, and absence of vacuolar myopathy on muscle biopsy.
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Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Davina J. Hensman Moss, +734 more
- 01 Sep 2017 - 
TL;DR: A novel measure of disease progression and a genome-wide significant signal on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2 is generated, suggesting this mechanism as an area for future therapeutic investigation.
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The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway

Hsien-Yang Lee, +19 more
- 15 Dec 2004 - 
TL;DR: Bioinformatic analysis reveals that the MR-1 gene is homologous to the hydroxyacylglutathione hydrolase (HAGH) gene, which functions in a pathway to detoxify methylglyoxal, a compound present in coffee and alcoholic beverages and produced as a by-product of oxidative stress.