[Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy.]

Jungbluth, Heinz
Wallgren-Pettersson, Carina
Laporte, Jocelyn

January 2008

International audienceCentronuclear myopathy (CNM) is an inherited neuromuscular disorder characteri...

Proteins involved in myopathies with centralization of nuclei,understand their link and the consequences of their mutations

Lienhart, Valérie

February 2011

Introduction : les myopathies centronucléaires (CNM) sont des maladies rares caractérisées par une f...

Proteins involved in myopathies with centralization of nuclei : understand their link and the consequences of their mutations.

TOSCH-LIENHART, Valérie

February 2011

Introduction : les myopathies centronucléaires (CNM) sont des maladies rares caractérisées par une f...

[Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy.]

Toussaint, Anne
Nicot, Anne-Sophie
Mandel, Jean-Louis
Laporte, Jocelyn

December 2007

International audienceNOUVELLE : Mutations de l'amphiphysine 2 (BIN1) dans les myopathies centronucl...

Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1

Kouwenberg, C.
Bohm, J.
Erasmus, C.E.
Balken, I.M.F. van
Vos, S.H.
Kusters, B.
Kamsteeg, E.J.
Biancalana, V.
Koch, C.
Dondaine, N.
Laporte, J.
Voermans, N.C.

January 2017

Contains fulltext : 182290.pdf (publisher's version ) (Closed access)Autosomal dom...

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation

Yis, Uluc
Cakmakci, HANDAN
Laporte, Jocelyn
Dirik, Eray
Kurul, Semra Hiz
Ortac, Ragip
Boehm, Johann

December 2010

Centronuclear myopathies (CNM) describe a group of rare muscle diseases typically presenting an abno...

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.

Böhm, Johann
Yiş, Uluç
Ortaç, Ragıp
Çakmakçı, Handan
Kurul, Semra,
Dirik, Eray
Laporte, Jocelyn

January 2010

International audienceCentronuclear myopathies (CNM) describe a group of rare muscle diseases typica...

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel <it>BIN1 </it>stop mutation

Kurul Semra
Çakmakçı Handan
Ortaç Ragıp
Yiş Uluç
Böhm Johann
Dirik Eray
Laporte Jocelyn

December 2010

Abstract Centronuclear myopathies (CNM) describe a group of rare muscle diseases typically presentin...

Novel dominant mutation in BIN1 gene causing mild centronuclear myopathy revealed by myalgias and CK elevation

Garibaldi, Matteo
Böhm, Johann
Fattori, Fabiana
Koch, Catherine
Surace, Cecilia
Ottaviani, Pierfrancesco
Laschena, Francesco
Laporte, Jocelyn
Bertini, Enrico
Antonini, Giovanni
Romero, Norma B.

January 2016

We present the clinical, morphological and molecular data of an Italian family with centronuclear my...

Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy

Böhm, Johann
Vasli, Nasim
Maurer, Marie
Cowling, Belinda
Shelton, G. Diane
Kress, Wolfram
Toussaint, Anne
Prokic, Ivana
Schara, Ulrike
Anderson, Thomas James
Weis, Joachim
Tiret, Laurent
Laporte, Jocelyn

January 2013

Chantier qualité GAInternational audienceAmphiphysin 2, encoded by BIN1, is a key factor for membran...

Pathological mechanisms of autosomal recessive centronuclear myopathy

Prokic, Ivana

September 2013

BIN1 est une protéine qui tubule les membranes. Elle est composée de plusieurs domaines : un domaine...

Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive

Centronuclear Myopathy
Nasim Vasli
Marie Maurer
Belinda Cowling
G. Diane Shelton
Wolfram Kress
Anne Toussaint
Ivana Prokic
Ulrike Schara
Thomas James Anderson
Joachim Weis
Laurent Tiret
Jocelyn Laporte

August 2016

Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different ce...

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy

Böhm, J.
Vasli, N.
Maurer, M.
Cowling, B.
Shelton, G.D.
Kress, W.
Toussaint, A.
Prokic, I.
Schara, U.
Anderson, T.J.
Weis, J.
Tiret, L.
Laporte, J.

January 2013

Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different ce...

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

Cabrera-Serrano, Macarena
Mavillard, Fabiola
Biancalana, Valerie
Rivas, Eloy
Morar, Bharti
Hernandez-Lain, Aurelio
Olive, Montse
Muelas, Nuria
Khan, Eduardo
Carvajal, Alejandra
Quiroga, Pablo
Diaz-Manera, Jordi
Davis, Mark
Avila, Rainiero
Dominguez, Cristina
Romero, Norma
Vilchez, Juan
Comas, David
Laing, Nigel
Laporte, Jocelyn
Kalaydjieva, Luba
Paradas, Carmen

January 2018

OBJECTIVE: To describe a large series of BIN1 patients, in which a novel founder mutation in the Rom...

Centronuclear (myotubular) myopathy

Wallgren-Pettersson Carina
Jungbluth Heinz
Laporte Jocelyn

September 2008

Abstract Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinic...

Centronuclear (myotubular) myopathy.

Jungbluth, Heinz
Wallgren-Pettersson, Carina
Laporte, Jocelyn

January 2008

International audienceCentronuclear myopathy (CNM) is an inherited neuromuscular disorder characteri...

Proteins involved in myopathies with centralization of nuclei,understand their link and the consequences of their mutations

Lienhart, Valérie

February 2011

Introduction : les myopathies centronucléaires (CNM) sont des maladies rares caractérisées par une f...

Proteins involved in myopathies with centralization of nuclei : understand their link and the consequences of their mutations.

TOSCH-LIENHART, Valérie

February 2011

Introduction : les myopathies centronucléaires (CNM) sont des maladies rares caractérisées par une f...

[Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy.]

Toussaint, Anne
Nicot, Anne-Sophie
Mandel, Jean-Louis
Laporte, Jocelyn

December 2007

International audienceNOUVELLE : Mutations de l'amphiphysine 2 (BIN1) dans les myopathies centronucl...

Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1

Kouwenberg, C.
Bohm, J.
Erasmus, C.E.
Balken, I.M.F. van
Vos, S.H.
Kusters, B.
Kamsteeg, E.J.
Biancalana, V.
Koch, C.
Dondaine, N.
Laporte, J.
Voermans, N.C.

January 2017

Contains fulltext : 182290.pdf (publisher's version ) (Closed access)Autosomal dom...

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation

Yis, Uluc
Cakmakci, HANDAN
Laporte, Jocelyn
Dirik, Eray
Kurul, Semra Hiz
Ortac, Ragip
Boehm, Johann

December 2010

Centronuclear myopathies (CNM) describe a group of rare muscle diseases typically presenting an abno...

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.

Böhm, Johann
Yiş, Uluç
Ortaç, Ragıp
Çakmakçı, Handan
Kurul, Semra,
Dirik, Eray
Laporte, Jocelyn

January 2010

International audienceCentronuclear myopathies (CNM) describe a group of rare muscle diseases typica...

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel <it>BIN1 </it>stop mutation

Kurul Semra
Çakmakçı Handan
Ortaç Ragıp
Yiş Uluç
Böhm Johann
Dirik Eray
Laporte Jocelyn

December 2010

Abstract Centronuclear myopathies (CNM) describe a group of rare muscle diseases typically presentin...

Novel dominant mutation in BIN1 gene causing mild centronuclear myopathy revealed by myalgias and CK elevation

Garibaldi, Matteo
Böhm, Johann
Fattori, Fabiana
Koch, Catherine
Surace, Cecilia
Ottaviani, Pierfrancesco
Laschena, Francesco
Laporte, Jocelyn
Bertini, Enrico
Antonini, Giovanni
Romero, Norma B.

January 2016

We present the clinical, morphological and molecular data of an Italian family with centronuclear my...

Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy

Böhm, Johann
Vasli, Nasim
Maurer, Marie
Cowling, Belinda
Shelton, G. Diane
Kress, Wolfram
Toussaint, Anne
Prokic, Ivana
Schara, Ulrike
Anderson, Thomas James
Weis, Joachim
Tiret, Laurent
Laporte, Jocelyn

January 2013

Chantier qualité GAInternational audienceAmphiphysin 2, encoded by BIN1, is a key factor for membran...

Pathological mechanisms of autosomal recessive centronuclear myopathy

Prokic, Ivana

September 2013

BIN1 est une protéine qui tubule les membranes. Elle est composée de plusieurs domaines : un domaine...

Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive

Centronuclear Myopathy
Nasim Vasli
Marie Maurer
Belinda Cowling
G. Diane Shelton
Wolfram Kress
Anne Toussaint
Ivana Prokic
Ulrike Schara
Thomas James Anderson
Joachim Weis
Laurent Tiret
Jocelyn Laporte

August 2016

Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different ce...

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy

Böhm, J.
Vasli, N.
Maurer, M.
Cowling, B.
Shelton, G.D.
Kress, W.
Toussaint, A.
Prokic, I.
Schara, U.
Anderson, T.J.
Weis, J.
Tiret, L.
Laporte, J.

January 2013

Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different ce...

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

Cabrera-Serrano, Macarena
Mavillard, Fabiola
Biancalana, Valerie
Rivas, Eloy
Morar, Bharti
Hernandez-Lain, Aurelio
Olive, Montse
Muelas, Nuria
Khan, Eduardo
Carvajal, Alejandra
Quiroga, Pablo
Diaz-Manera, Jordi
Davis, Mark
Avila, Rainiero
Dominguez, Cristina
Romero, Norma
Vilchez, Juan
Comas, David
Laing, Nigel
Laporte, Jocelyn
Kalaydjieva, Luba
Paradas, Carmen

January 2018

OBJECTIVE: To describe a large series of BIN1 patients, in which a novel founder mutation in the Rom...

Centronuclear (myotubular) myopathy

Wallgren-Pettersson Carina
Jungbluth Heinz
Laporte Jocelyn

September 2008

Abstract Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinic...

Centronuclear (myotubular) myopathy.

Jungbluth, Heinz
Wallgren-Pettersson, Carina
Laporte, Jocelyn

January 2008

International audienceCentronuclear myopathy (CNM) is an inherited neuromuscular disorder characteri...

Proteins involved in myopathies with centralization of nuclei,understand their link and the consequences of their mutations

Lienhart, Valérie

February 2011

Introduction : les myopathies centronucléaires (CNM) sont des maladies rares caractérisées par une f...

Proteins involved in myopathies with centralization of nuclei : understand their link and the consequences of their mutations.

TOSCH-LIENHART, Valérie

February 2011

Introduction : les myopathies centronucléaires (CNM) sont des maladies rares caractérisées par une f...

[Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy.]

Abstract

Extracted data

[Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy.]

Abstract

Extracted data

Related items

Related items