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

EOA Consortium

doi:10.1093/brain/aww115

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

EOA Consortium

Hussman Institute for Human Genomics

Research output: Contribution to journal › Letter › peer-review

25 Scopus citations

Original language	English (US)
Pages (from-to)	e46
Journal	Brain
Volume	139
Issue number	8
DOIs	https://doi.org/10.1093/brain/aww115
State	Published - Aug 1 2016

ASJC Scopus subject areas

Clinical Neurology

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10.1093/brain/aww115

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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 Stephan Z{\"u}chner 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",

month = aug,

day = "1",

doi = "10.1093/brain/aww115",

language = "English (US)",

volume = "139",

pages = "e46",

journal = "Brain",

issn = "0006-8950",

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TY - JOUR

T1 - Multisystemic SYNE1 ataxia

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 - Züchner, Stephan

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

Y1 - 2016/8/1

UR - http://www.scopus.com/inward/record.url?scp=84982883780&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84982883780&partnerID=8YFLogxK

U2 - 10.1093/brain/aww115

DO - 10.1093/brain/aww115

M3 - Letter

C2 - 27197992

AN - SCOPUS:84982883780

VL - 139

SP - e46

JO - Brain

JF - Brain

SN - 0006-8950

IS - 8

ER -

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

ASJC Scopus subject areas

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