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  4. TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features
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TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features

Journal
Neurology
ISSN
0028-3878
1526-632X
Date Issued
2016
Author(s)
Simona Balestrini
Mathieu Milh
Claudia Castiglioni
Kevin Lüthy
Mattea J. Finelli
Patrik Verstreken
Aaron Cardon
Barbara Gnidovec Stražišar
J. Lloyd Holder
Gaetan Lesca
Maria M. Mancardi
Anne L. Poulat
REPETTO LISBOA, MARIA GABRIELA  
Facultad de Medicina Clínica Alemana Universidad del Desarrollo  
Siddharth Banka
Leonilda Bilo
Laura E. Birkeland
Friedrich Bosch
Knut Brockmann
J. Helen Cross
Diane Doummar
Temis M. Félix
Fabienne Giuliano
Mutsuki Hori
Irina Hüning
Hulia Kayserili
Usha Kini
Melissa M. Lees
Girish Meenakshi
Leena Mewasingh
Alistair T. Pagnamenta
Silvio Peluso
Antje Mey
Gregory M. Rice
Jill A. Rosenfeld
Jenny C. Taylor
Matthew M. Troester
Christine M. Stanley
Dorothee Ville
Magdalena Walkiewicz
Antonio Falace
Anna Fassio
Johannes R. Lemke
Saskia Biskup
Jessica Tardif
Norbert F. Ajeawung
Aslihan Tolun
Mark Corbett
Jozef Gecz
Zaid Afawi
Katherine B. Howell
Karen L. Oliver
Samuel F. Berkovic
Ingrid E. Scheffer
Fabrizio A. de Falco
Peter L. Oliver
Pasquale Striano
Federico Zara
Phillipe M. Campeau
S.M. Sisodiya
Type
Resource Types::text::journal::journal article
Scopus ID
2-s2.0-84977583573
WoS ID
WOS:000380107300019
DOI
10.1212/WNL.0000000000002807
URL
https://investigadores.udd.cl/handle/123456789/2947
URL Institutional Repository
http://hdl.handle.net/11447/919
Subjects
infantile myoclonic epilepsy

; 

doors syndrome

; 

hearing-loss

; 

2 siblings

; 

mutation

; 

proteins

; 

neurodegeneration

; 

impairment

; 

activation

; 

maturation
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