A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1

Dirk Fischer¹, Maria Schabhüttl², Thomas Wieland³, Reinhard Windhager², Tim M Strom⁴, Michaela Auer-Grumbach⁵

Affiliations

¹ 1 Department of Neurology, University of Basel Hospital, 4031 Basel, Switzerland2 Division of Neuropaediatrics, University of Basel Childrens Hospital, 4056 Basel, Switzerland.
² 3 Department of Orthopaedics, Medical University Vienna, 1090 Vienna, Austria.
³ 4 Institute of Human Genetics, Helmholtz Zentrum München - German Research Center for Environmental Health, 85764 Neuherberg, Germany.
⁴ 4 Institute of Human Genetics, Helmholtz Zentrum München - German Research Center for Environmental Health, 85764 Neuherberg, Germany5 Institute for Human Genetics, Technical University Munich, 81675 Munich, Germany.
⁵ 3 Department of Orthopaedics, Medical University Vienna, 1090 Vienna, Austria michaela.auer-grumbach@meduniwien.ac.at.

PMID: 24736309
DOI: 10.1093/brain/awu091

Comment

A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1

Dirk Fischer et al. Brain. 2014 Jul.

. 2014 Jul;137(Pt 7):e286.

doi: 10.1093/brain/awu091. Epub 2014 Apr 15.

Authors

Dirk Fischer¹, Maria Schabhüttl², Thomas Wieland³, Reinhard Windhager², Tim M Strom⁴, Michaela Auer-Grumbach⁵

Affiliations

¹ 1 Department of Neurology, University of Basel Hospital, 4031 Basel, Switzerland2 Division of Neuropaediatrics, University of Basel Childrens Hospital, 4056 Basel, Switzerland.
² 3 Department of Orthopaedics, Medical University Vienna, 1090 Vienna, Austria.
³ 4 Institute of Human Genetics, Helmholtz Zentrum München - German Research Center for Environmental Health, 85764 Neuherberg, Germany.
⁴ 4 Institute of Human Genetics, Helmholtz Zentrum München - German Research Center for Environmental Health, 85764 Neuherberg, Germany5 Institute for Human Genetics, Technical University Munich, 81675 Munich, Germany.
⁵ 3 Department of Orthopaedics, Medical University Vienna, 1090 Vienna, Austria michaela.auer-grumbach@meduniwien.ac.at.

PMID: 24736309
DOI: 10.1093/brain/awu091

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Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.
Kornak U, Mademan I, Schinke M, Voigt M, Krawitz P, Hecht J, Barvencik F, Schinke T, Gießelmann S, Beil FT, Pou-Serradell A, Vílchez JJ, Beetz C, Deconinck T, Timmerman V, Kaether C, De Jonghe P, Hübner CA, Gal A, Amling M, Mundlos S, Baets J, Kurth I. Kornak U, et al. Brain. 2014 Mar;137(Pt 3):683-92. doi: 10.1093/brain/awt357. Epub 2014 Jan 22. Brain. 2014. PMID: 24459106

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A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1

Affiliations

A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1

Authors

Affiliations

Comment on

Publication types

MeSH terms

Substances

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Molecular Biology Databases