Mutation of the WARS2 gene as the cause of a severe hyperkinetic movement disorder

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Bibliographic citation: In: Movement Disorders Clinical Practice ; 7 (2019), 1. - S. 88-90

Keyword: Hyperkinese
Bewegungsstörung
Transfer-RNS
Mitochondrium

Event: Veröffentlichung

(where): Ulm

(who): Universität Ulm

(when): 2019

Creator: Hübers, Annemarie
Huppertz, Hans-Jürgen
Wortmann, Saskia B.
Kassubek, Jan Rainer

DOI: 10.18725/OPARU-43168

URN: urn:nbn:de:bsz:289-oparu-43244-3

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:28 AM CEST

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Associated

Hübers, Annemarie
Huppertz, Hans-Jürgen
Wortmann, Saskia B.
Kassubek, Jan Rainer
Universität Ulm

Time of origin

2019

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Mutation of the WARS2 gene as the cause of a severe hyperkinetic movement disorder

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Other Objects (12)

Characterisation of the Cullin‐3 mutation that causes a severe form of familial hypertension and hyperkalaemia

The desmin mutation DES-c.735G>C causes severe restrictive cardiomyopathy by inducing in-frame skipping of exon-3

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Factor IX p.A37V mutation causes severe bleeding in a patient with phenprocoumon therapy

ANP mutation causes reduced proteolysis

The cause : a short history of the women's movement in Great Britain

The Cause : A Short History of the Women's Movement in Great Britain

APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

The emergence of the cause of rare diseases and rare disease patients’ movement

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A novel homozygous p.Ser69Pro SOD1 mutation causes severe young-onset ALS with decreased enzyme activity

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The desmin mutation DES-c.735G>C causes severe restrictive cardiomyopathy by inducing in-frame skipping of exon-3

The role of hashtags for non-profit causes: the #fridaysforfuture movement

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ANP mutation causes reduced proteolysis

The cause : a short history of the women's movement in Great Britain

The Cause : A Short History of the Women's Movement in Great Britain

APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

The emergence of the cause of rare diseases and rare disease patients’ movement

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A novel homozygous p.Ser69Pro SOD1 mutation causes severe young-onset ALS with decreased enzyme activity

Characterisation of the Cullin‐3 mutation that causes a severe form of familial hypertension and hyperkalaemia

The desmin mutation DES-c.735G>C causes severe restrictive cardiomyopathy by inducing in-frame skipping of exon-3

The role of hashtags for non-profit causes: the #fridaysforfuture movement

Factor IX p.A37V mutation causes severe bleeding in a patient with phenprocoumon therapy

ANP mutation causes reduced proteolysis

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APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family

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