Publications by authors named "Frederic Chevessier"

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Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.
Laura Vanden Brande, Stéphanie Bauché, Laura Pérez-Guàrdia, Damien Sternberg, Andreea M Seferian, Frédéric Chevessier

Neuropathol Appl Neurobiol· December 2023

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Corrigendum to 'Therapeutic HNF4A mRNA attenuates liver fibrosis in a preclinical model' [J Hepatol (2021) 1420-1433].
Taihua Yang, Marion Poenisch, Rajendra Khanal, Qingluan Hu, Zhen Dai, Frédéric Chevessier

J Hepatol· July 2022

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Therapeutic HNF4A mRNA attenuates liver fibrosis in a preclinical model.
Taihua Yang, Marion Poenisch, Rajendra Khanal, Qingluan Hu, Zhen Dai, Frédéric Chevessier

J Hepatol· December 2021

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Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation.
Julia Schuld, Zacharias Orfanos, Frédéric Chevessier, Britta Eggers, Lorena Heil

Acta Neuropathol Commun· September 2020

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Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
Joery P Molenaar, Jamie I Verhoeven, Richard J Rodenburg, Erik J Kamsteeg, Corrie E Erasmus, Frédéric Chevessier

Brain· February 2020

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Treadmill exercise intervention improves gait and postural control in alpha-synuclein mouse models without inducing cerebral autophagy.
Georgia Minakaki, Fabio Canneva, Frédéric Chevessier, Frederik Bode, Stefanie Menges

Behav Brain Res· May 2019

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CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.
Johann Böhm, Xavière Lornage, Frederic Chevessier, Catherine Birck, Simona Zanotti

Acta Neuropathol· January 2018

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Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.
Stéphanie Bauché, Geoffroy Vellieux, Damien Sternberg, Marie-Joséphine Fontenille, Elodie De Bruyckere, Frédéric Chevessier

J Neurol· August 2017

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Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue.
Lilli Winter, Ilka Wittig, Viktoriya Peeva, Britta Eggers, Juliana Heidler, Frederic Chevessier

Acta Neuropathol· September 2016

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Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice.
Hacer Durmuş, Özgecan Ayhan, Sebahattin Çırak, Feza Deymeer, Yeşim Parman, Frederic Chevessier

Neurology· August 2016

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Myofibrillar instability exacerbated by acute exercise in filaminopathy.
Frédéric Chevessier, Julia Schuld, Zacharias Orfanos, Anne-C Plank, Lucie Wolf

Hum Mol Genet· December 2015

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Atypical nuclear abnormalities in a patient with Brody disease.
Jean-Marie Mussini, Armelle Magot, Daniel Hantaï, Damien Sternberg, Frédéric Chevessier

Neuromuscul Disord· October 2015

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VCP and PSMF1: Antagonistic regulators of proteasome activity.
Christoph S Clemen, Marija Marko, Karl-Heinz Strucksberg, Juliane Behrens, Ilka Wittig, Frederic Chevessier

Biochem Biophys Res Commun· August 2015

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Severe protein aggregate myopathy in a knockout mouse model points to an essential role of cofilin2 in sarcomeric actin exchange and muscle maintenance.
Christine B Gurniak, Frédéric Chevessier, Melanie Jokwitz, Friederike Jönsson, Emerald Perlas

Eur J Cell Biol· May 2015

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The toxic effect of R350P mutant desmin in striated muscle of man and mouse.
Christoph S Clemen, Florian Stöckigt, Karl-Heinz Strucksberg, Frederic Chevessier, Lilli Winter

Acta Neuropathol· February 2015

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Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.
Johann Böhm, Frédéric Chevessier, Catherine Koch, G Arielle Peche, Marina Mora

J Med Genet· December 2014

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Advances in the understanding of skeletal muscle weakness in murine models of diseases affecting nerve-evoked muscle activity, motor neurons, synapses and myofibers.
Arnaud Ferry, Pierre Joanne, Wahiba Hadj-Said, Alban Vignaud, Alain Lilienbaum, Frederic Chevessier

Neuromuscul Disord· November 2014

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C9ORF72-ALS: P62- and ubiquitin-aggregation pathology in skeletal muscle.
Matthias Türk, Gerrit Haaker, Lilli Winter, Walter Just, Florian T Nickel, Frédéric Chevessier

Muscle Nerve· September 2014

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Hereditary myopathy with early respiratory failure: occurrence in various populations.
Johanna Palmio, Anni Evilä, Françoise Chapon, Giorgio Tasca, Fengqing Xiang, Frederic Chevessier

J Neurol Neurosurg Psychiatry· March 2014

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The neuromuscular junction: selective remodeling of synaptic regulators at the nerve/muscle interface.
Veit Witzemann, Frédéric Chevessier, Pier Giorgio Pacifici, Pessah Yampolsky

Mech Dev· December 2013

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Multisystem disorder and limb girdle muscular dystrophy caused by LMNA p.R28W mutation.
Matthias Türk, Manfred Wehnert, Rolf Schröder, Frédéric Chevessier

Neuromuscul Disord· July 2013

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Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.
Johann Böhm, Frédéric Chevessier, André Maues De Paula, Catherine Koch, Shahram Attarian

Am J Hum Genet· February 2013

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A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation.
Frédéric Chevessier, Christoph Peter, Ulrike Mersdorf, Emmanuelle Girard, Eric Krejci

Neurobiol Dis· March 2012

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Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.
Caroline Huzé, Stéphanie Bauché, Pascale Richard, Frédéric Chevessier, Evelyne Goillot

Am J Hum Genet· August 2009

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A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions.
Frédéric Chevessier, Emmanuelle Girard, Jordi Molgó, Sönke Bartling, Jeanine Koenig

Hum Mol Genet· November 2008

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