Multisystemic SYNE1 ataxia: Confirming the high frequency and extending the mutational and phenotypic spectrum

EOA Consortium

Research output: Contribution to journalLetter

15 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)e46
JournalBrain
Volume139
Issue number8
DOIs
StatePublished - Aug 1 2016

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DNA Mutational Analysis
Cerebellar Ataxia
Ataxia
Phenotype
Mutation
DNA Analysis

ASJC Scopus subject areas

  • Medicine(all)
  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

Cite this

Multisystemic SYNE1 ataxia : Confirming the high frequency and extending the mutational and phenotypic spectrum. / EOA Consortium.

In: Brain, Vol. 139, No. 8, 01.08.2016, p. e46.

Research output: Contribution to journalLetter

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title = "Multisystemic SYNE1 ataxia: Confirming the high frequency and extending the mutational and phenotypic spectrum",
author = "{EOA Consortium} and In{\`e}s Mademan and Florian Harmuth and Ilaria Giordano and Dagmar Timmann and Stefania Magri and Tine Deconinck and Jens Claa{\ss}en and Daniel Jokisch and Gencer Genc and {Di Bella}, Daniela and Silvia Romito and Rebecca Sch{\"u}le and Zuchner, {Stephan L} and Franco Taroni and Thomas Klockgether and Ludger Sch{\"o}ls and {De Jonghe}, Peter and Peter Bauer and Jonathan Baets and Matthis Synofzik",
year = "2016",
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T2 - Confirming the high frequency and extending the mutational and phenotypic spectrum

AU - EOA Consortium

AU - Mademan, Inès

AU - Harmuth, Florian

AU - Giordano, Ilaria

AU - Timmann, Dagmar

AU - Magri, Stefania

AU - Deconinck, Tine

AU - Claaßen, Jens

AU - Jokisch, Daniel

AU - Genc, Gencer

AU - Di Bella, Daniela

AU - Romito, Silvia

AU - Schüle, Rebecca

AU - Zuchner, Stephan L

AU - Taroni, Franco

AU - Klockgether, Thomas

AU - Schöls, Ludger

AU - De Jonghe, Peter

AU - Bauer, Peter

AU - Baets, Jonathan

AU - Synofzik, Matthis

PY - 2016/8/1

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DO - 10.1093/brain/aww115

M3 - Letter

C2 - 27197992

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SP - e46

JO - Brain

JF - Brain

SN - 0006-8950

IS - 8

ER -