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5 research outputs found
Novel CLCN1 mutations with unique clinical and electrophysiological consequences
Author
Devaney J
Escriva Mj
+16Â more
Fahlke C.
Felice Kj
Giuliani Mj
Hoffman Ep
KORADE MIRNICS Z
Marino M
Mayer Rf
Mongini T
Palmucci L
Pegoraro Elena
Poser B
Rudel R
Ryan A
Warnstedt M
Wu Ff
Yee As
Publication venue
Publication date
01/01/2002
Field of study
No full text
Archivio istituzionale della ricerca - Università di Padova
Myotonia congenita and myoadenylate deaminase deficiency: case report
Author
Bruno C
Carlos Henrique Camargo
+17Â more
Fabio Massaiti Iwamoto
Fishbein WN
Gross M
Gross M
Hoffbuhr K
Kar NC
Koty PP
Lineu Cesar Werneck
Mercelis R
Morisaki T
Norman B
Ptacek LJ
Rosana Herminia Scola
Sabina RL
Verzijl HTFM
Walter Oleschko Arruda
Warnstedt M
Publication venue
'FapUNIFESP (SciELO)'
Publication date
Field of study
No full text
Crossref
RETRACTED: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies
Author
Alekov A.K.
Beyenburg S.
+23Â more
Dullinger J.S.
Elger C.E.
Fahlke C.
Giese B.
Hallmann K.
Haug K.
Haverkamp F.
Hebeisen S.
Heils A.
Horvath S.
Janz D.
Kubisch C.
Lerche H.
Maljevic S.
Mueller-Newen G.
Poser B.
Propping P.
Ramirez A.
Rau B.
Rebstock J.
Sander T.
Schulz H.
Warnstedt M.
Publication venue
'Springer Science and Business Media LLC'
Publication date
01/01/2003
Field of study
No full text
MDC Repository
Dominantly Inherited Myotonia Congenita Resulting from a Mutation That Increases Open Probability of the Muscle Chloride Channel CLC-1
Author
A Raj
A Ryan
+43Â more
A Shalata
BJ Simpson
C Fahlke
C Kubisch
C Lossin
C Saviane
Chih-Yung Tang
CR Heatwole
David P. Richman
E Colding-Jorgensen
F Gao
F Morales
FF Wu
H Papponen
HY Li
IS Moon
J Zhang
KR Kumar
M Duffield
M Duno
M Grunnet
M Pusch
M Pusch
M Warnstedt
MJ Lin
MJ Lyons
MJ Macias
Pang-Yen Tseng
PP Koty
PY Tseng
PY Tseng
R Dutzler
R Dutzler
RE Furman
Ricardo A. Maselli
Ting-Ting Lee
TJ Jentsch
Tsung-Yu Chen
TY Chen
V Mailander
Wei-Ping Yu
XD Zhang
Yawei Yu
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies
Author
A Sik
A Thiemann
+52Â more
Alexi K. Alekov
Alfredo RamÃrez
Armin Heils
Barbara Poser
Bernd Giese
Birgit Rau
C Fahlke
C Fahlke
C Labarca
C Miller
C Rivera
Christian E. Elger
Christian Kubisch
Christoph Fahlke
D Ma
Dieter Janz
Fritz Haverkamp
Gerhard Müller-Newen
H Lerche
Herbert Schulz
Holger Lerche
J Cui
JA Payne
JM Serratosa
Joern S. Dullinger
Johannes Rebstock
K Kaila
Karsten Haug
Kerstin Hallmann
KJ Staley
KJ Staley
LP Cid
M Mladinic
Maike Warnstedt
MR Bösl
OK Steinlein
P Cossette
Peter Propping
R Dutzler
RH Wallace
S Baulac
S Kalachikov
SA Ross
SF Berkovic
Simon Hebeisen
SM Thompson
Snezana Maljevic
Stefan Beyenburg
Steve Horvath
T Sander
Thomas Sander
U Misgeld
Publication venue
'Springer Science and Business Media LLC'
Publication date
01/01/2003
Field of study
No full text
Crossref
MDC Repository