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Aprataxin mutations are a rare cause of early onset ataxia in Germany.

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Aprataxin mutations are a rare cause of early onset ataxia in Germany. / Habeck, Matthias; Zühlke, Christine; Bentele, Karl H. P.; Unkelbach, Stephan; Kress, Wolfram; Bürk, Katrin; Schwinger, Eberhard; Hellenbroich, Yorck.

in: J NEUROL, Jahrgang 251, Nr. 5, 5, 2004, S. 591-594.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Habeck, M, Zühlke, C, Bentele, KHP, Unkelbach, S, Kress, W, Bürk, K, Schwinger, E & Hellenbroich, Y 2004, 'Aprataxin mutations are a rare cause of early onset ataxia in Germany.', J NEUROL, Jg. 251, Nr. 5, 5, S. 591-594. <http://www.ncbi.nlm.nih.gov/pubmed/15164193?dopt=Citation>

APA

Habeck, M., Zühlke, C., Bentele, K. H. P., Unkelbach, S., Kress, W., Bürk, K., Schwinger, E., & Hellenbroich, Y. (2004). Aprataxin mutations are a rare cause of early onset ataxia in Germany. J NEUROL, 251(5), 591-594. [5]. http://www.ncbi.nlm.nih.gov/pubmed/15164193?dopt=Citation

Vancouver

Habeck M, Zühlke C, Bentele KHP, Unkelbach S, Kress W, Bürk K et al. Aprataxin mutations are a rare cause of early onset ataxia in Germany. J NEUROL. 2004;251(5):591-594. 5.

Bibtex

@article{3ced3fd1c4ee411f80502a171f232b7d,
title = "Aprataxin mutations are a rare cause of early onset ataxia in Germany.",
abstract = "Aprataxin (APTX) mutations are the cause of ataxia with ocular motor apraxia type 1(AOA1), an autosomal recessive disorder linked to chromosome 9p13.AOA1 seems to be one of the most frequent causes of recessive ataxia in Japan and Portugal. We screened a group of 165 early onset ataxia patients for APTX mutations and detected two non-related patients homozygous for the W293X nonsense mutation. Additionally, we describe several new transcript variants of the APTX gene and discuss their relevance for a sufficient mutation screening.",
author = "Matthias Habeck and Christine Z{\"u}hlke and Bentele, {Karl H. P.} and Stephan Unkelbach and Wolfram Kress and Katrin B{\"u}rk and Eberhard Schwinger and Yorck Hellenbroich",
year = "2004",
language = "Deutsch",
volume = "251",
pages = "591--594",
journal = "J NEUROL",
issn = "0340-5354",
publisher = "D. Steinkopff-Verlag",
number = "5",

}

RIS

TY - JOUR

T1 - Aprataxin mutations are a rare cause of early onset ataxia in Germany.

AU - Habeck, Matthias

AU - Zühlke, Christine

AU - Bentele, Karl H. P.

AU - Unkelbach, Stephan

AU - Kress, Wolfram

AU - Bürk, Katrin

AU - Schwinger, Eberhard

AU - Hellenbroich, Yorck

PY - 2004

Y1 - 2004

N2 - Aprataxin (APTX) mutations are the cause of ataxia with ocular motor apraxia type 1(AOA1), an autosomal recessive disorder linked to chromosome 9p13.AOA1 seems to be one of the most frequent causes of recessive ataxia in Japan and Portugal. We screened a group of 165 early onset ataxia patients for APTX mutations and detected two non-related patients homozygous for the W293X nonsense mutation. Additionally, we describe several new transcript variants of the APTX gene and discuss their relevance for a sufficient mutation screening.

AB - Aprataxin (APTX) mutations are the cause of ataxia with ocular motor apraxia type 1(AOA1), an autosomal recessive disorder linked to chromosome 9p13.AOA1 seems to be one of the most frequent causes of recessive ataxia in Japan and Portugal. We screened a group of 165 early onset ataxia patients for APTX mutations and detected two non-related patients homozygous for the W293X nonsense mutation. Additionally, we describe several new transcript variants of the APTX gene and discuss their relevance for a sufficient mutation screening.

M3 - SCORING: Zeitschriftenaufsatz

VL - 251

SP - 591

EP - 594

JO - J NEUROL

JF - J NEUROL

SN - 0340-5354

IS - 5

M1 - 5

ER -