C. Koch

发表

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.

D. Figarella-Branger, N. Romero, J. Pouget, 2013, American journal of human genetics.

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

E. Malfatti, N. Romero, J. Mandel, 2014, Brain : a journal of neurology.

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

N. Romero, E. Ricci, L. Morandi, 2014, Journal of Medical Genetics.

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome

M. Koch, S. Q. Mehdi, J. Mandel, 2012, European Journal of Human Genetics.

Mild Functional Differences of Dynamin 2 Mutations Associated to Centronuclear Myopathy and Charcot-Marie-Tooth Peripheral Neuropathy

K. North, J. Böhm, J. Laporte, 2011, PloS one.

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

W. Newman, E. Malfatti, N. Romero, 2017, Human mutation.

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

N. Voermans, V. Biancalana, E. Kamsteeg, 2017, Journal of neuromuscular diseases.

Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients

Arturo E. Hernandez, L. Servais, A. D’Amico, 2020, Molecular therapy. Methods & clinical development.

Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration

F. Pilot-Storck, A. Ferry, J. Laporte, 2020, Disease Models & Mechanisms.

Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration

F. Pilot-Storck, A. Ferry, J. Laporte, 2018, Disease Models & Mechanisms.

Natural history study and statistical modeling of disease progression in a preclinical model of myotubular myopathy

J. Laporte, L. Thielemans, S. Buono, 2022, Disease models & mechanisms.

Amphiphysin 2 Orchestrates Nucleus Positioning and Shape by Linking the Nuclear Envelope to the Actin and Microtubule Cytoskeleton.

M. Labouesse, N. Romero, J. Laporte, 2015, Developmental cell.

Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation.

E. Bertini, N. Romero, J. Böhm, 2016, Journal of neuromuscular diseases.

Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients

Arturo E. Hernandez, L. Servais, J. Laporte, 2020, Molecular therapy. Methods & clinical development.