List of works - Marc Bitoun

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

scientific article

A Centronuclear Myopathy - Dynamin 2 Mutation Impairs Autophagy in Mice

scientific article published on 03 April 2012

A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice

scientific article published on 21 September 2010

A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation

scientific article published on 01 January 2009

A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings

scientific article published on 03 April 2008

Actin scaffolding by clathrin heavy chain is required for skeletal muscle sarcomere organization

scientific article

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

scientific article

Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy

scientific article published on 15 December 2017

Alternative splicing of clathrin heavy chain contributes to the switch from coated pits to plaques

scientific article published on 01 September 2020

An alternative mechanism of clathrin-coated pit closure revealed by ion conductance microscopy

scientific article

Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy.

scientific article

Centronuclear Myopathies ⬇️

scientific article published on December 1, 2011

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

article

Characterization of the cDNA coding for rat brain cysteine sulfinate decarboxylase: brain and liver enzymes are identical proteins encoded by two distinct mRNAs

scientific article published in September 1999

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy

scientific article published on 3 April 2006

Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle

scientific article published on 02 January 2019

Correlative SICM-FCM reveals changes in morphology and kinetics of endocytic pits induced by disease-associated mutations in dynamin

scientific article published on 24 April 2019

Dynamin 2 and human diseases.

scientific article published on 03 February 2010

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis

scientific article published on 01 October 2009

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

scientific article published on 01 December 2007

Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells.

scientific article

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

scientific article published on 12 March 2010

Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy.

scientific article published on 30 December 2017

Gene expression of taurine transporter and taurine biosynthetic enzymes in brain of rats with acute or chronic hyperosmotic plasma. A comparative study with gene expression of myo-inositol transporter, betaine transporter and sorbitol biosynthetic e

scientific article published on 01 April 2000

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

scientific article

Impaired excitation-contraction coupling in muscle fibres from the dynamin2R465W mouse model of centronuclear myopathy.

scientific article

Loss of Dynamin 2 GTPase function results in microcytic anaemia

scientific article published on 3 May 2017

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

scientific article

Mutations in dynamin 2 cause dominant centronuclear myopathy

scientific article

Neuromuscular expression of the BTB/POZ and zinc finger protein myoneurin.

scientific article published in January 2004

Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model

scientific article published in Scientific Reports

Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation

scientific article published on 01 February 2010

Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations

scientific article published on 9 January 2011

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization ⬇️

scientific article published on April 1, 2011

Reducing dynamin 2 (DNM2) rescues -related dominant centronuclear myopathy

article published in the Proceedings of the National Academy of Sciences of the United States of America

Reprogramming the Dynamin 2 mRNA by Spliceosome-mediated RNA Trans-splicing

scientific article published on 13 September 2016

Role of dynamin 2 in the disassembly of focal adhesions.

scientific article published on 23 April 2013

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders

scientific article published on September 2013

Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy

article

List of works by Marc Bitoun

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

A Centronuclear Myopathy - Dynamin 2 Mutation Impairs Autophagy in Mice

A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice

A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation

A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings

Actin scaffolding by clathrin heavy chain is required for skeletal muscle sarcomere organization

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy

Alternative splicing of clathrin heavy chain contributes to the switch from coated pits to plaques

An alternative mechanism of clathrin-coated pit closure revealed by ion conductance microscopy

Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy.

Centronuclear Myopathies ⬇️

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

Characterization of the cDNA coding for rat brain cysteine sulfinate decarboxylase: brain and liver enzymes are identical proteins encoded by two distinct mRNAs

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy

Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle

Correlative SICM-FCM reveals changes in morphology and kinetics of endocytic pits induced by disease-associated mutations in dynamin

Dynamin 2 and human diseases.

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells.

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy.

Gene expression of taurine transporter and taurine biosynthetic enzymes in brain of rats with acute or chronic hyperosmotic plasma. A comparative study with gene expression of myo-inositol transporter, betaine transporter and sorbitol biosynthetic e

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Impaired excitation-contraction coupling in muscle fibres from the dynamin2R465W mouse model of centronuclear myopathy.

Loss of Dynamin 2 GTPase function results in microcytic anaemia

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Mutations in dynamin 2 cause dominant centronuclear myopathy

Neuromuscular expression of the BTB/POZ and zinc finger protein myoneurin.

Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model

Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation

Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization ⬇️

Reducing dynamin 2 (DNM2) rescues -related dominant centronuclear myopathy

Reprogramming the Dynamin 2 mRNA by Spliceosome-mediated RNA Trans-splicing

Role of dynamin 2 in the disassembly of focal adhesions.

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders

Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy