Search Results - "Herasse, Muriel"

Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients by Hérasse, Muriel, Spentchian, Marc, Taillandier, Agnès, Mornet, Etienne

“…Hypophosphatasia is a rare inborn error of metabolism characterised by defective bone mineralisation caused by a deficiency of liver-, bone- or kidney-type…”
Get full text

Expression and Functional Characteristics of Calpain 3 Isoforms Generated through Tissue-Specific Transcriptional and Posttranscriptional Events by Herasse, Muriel, Ono, Yasuko, Fougerousse, Françoise, Kimura, Ei-ichi, Stockholm, Daniel, Beley, Cyriaque, Montarras, Didier, Pinset, Christian, Sorimachi, Hiroyuki, Suzuki, Koichi, Beckmann, Jacques S., Richard, Isabelle

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
Get full text

Alteration of Sarcoplasmic Reticulum Ca^(2+) Release in Skeletal Muscle from Calpain 3-Deficient Mice by Dayanithi, Govindan, Richard, Isabelle, Viero, Cédric, Mazuc, Elsa, Mallie, Sylvie, Valmier, Jean, Bourg, Nathalie, Herasse, Muriel, Marty, Isabelle, Lefranc, Gérard, Mangeat, Paul, Baghdiguian, Stephen

“…Mutations of Ca(2+)-activated proteases (calpains) cause muscular dystrophies. Nevertheless, the specific role of calpains in Ca(2+) signalling during the…”
Get full text

Alteration of Sarcoplasmic Reticulum Ca2+ Release in Skeletal Muscle from Calpain 3-Deficient Mice by Dayanithi, Govindan, Richard, Isabelle, Viero, Cédric, Mazuc, Elsa, Mallie, Sylvie, Valmier, Jean, Bourg, Nathalie, Herasse, Muriel, Marty, Isabelle, Lefranc, Gérard, Mangeat, Paul, Baghdiguian, Stephen

“…Mutations of Ca2+-activated proteases (calpains) cause muscular dystrophies. Nevertheless, the specific role of calpains in Ca2+ signalling during the onset of…”
Get full text

Comparing COVID-19 disease severity in patients with rheumatic and inflammatory diseases between the first and the subsequent waves by Drumez, Elodie, Richez, Christophe, Bebear, Louis, Herasse, Muriel, Flipo, René-Marc, Marotte, Hubert, Georgin-Lavialle, Sophie, Seror, Raphaèle, Pertuiset, Edouard, Avouac, Jérôme, Chazerain, Pascal, Roux, Nicolas, Pham, Thao, Dernis, Emmanuelle, Uzunhan, Yurdagul, Servettaz, Amélie, El Mahou, Soumaya, Cacoub, Patrice, Hamidou, Mohamed, Fautrel, Bruno, Thomas, Thierry, Hachulla, Eric

Get full text

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy by Fischer, Dirk, Herasse, Muriel, Bitoun, Marc, Barragán-Campos, Héctor M., Chiras, Jacques, Laforêt, Pascal, Fardeau, Michel, Eymard, Bruno, Guicheney, Pascale, Romero, Norma B.

“…Centronuclear myopathy (CNM) is a slowly progressive congenital myopathy characterized by abnormal centrally located nuclei in a large number of muscle fibres…”
Get full text

Loss of Calpain 3 Proteolytic Activity Leads to Muscular Dystrophy and to Apoptosis-Associated IκBα/Nuclear Factor κB Pathway Perturbation in Mice by Richard, Isabelle, Roudaut, Carinne, Marchand, Sylvie, Baghdiguian, Stephen, Herasse, Muriel, Stockholm, Daniel, Ono, Yasuko, Suel, Laurence, Bourg, Nathalie, Sorimachi, Hiroyuki, Lefranc, Gérard, Fardeau, Michel, Sébille, Alain, Beckmann, Jacques S.

“…Calpain 3 is known as the skeletal muscle-specific member of the calpains, a family of intracellular nonlysosomal cysteine proteases. It was previously shown…”
Get full text

Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes by FOUGEROUSSE, F, BULLEN, P, BECKMANN, J. S, STRACHAN, T, HERASSE, M, LINDSAY, S, RICHARD, I, WILSON, D, SUEL, L, DURAND, M, ROBSON, S, ABITBOL, M

“…Our understanding of early human development has been impeded by the general difficulty in obtaining suitable samples for study. As a result, and because of…”
Get full text

Abnormal Distribution of Calcium-Handling Proteins: A Novel Distinctive Marker in Core Myopathies by Herasse, Muriel, Parain, Karine, Marty, Isabelle, Monnier, Nicole, Kaindl, Angela M, Leroy, Jean-Paul, Richard, Pascale, Lunardi, Jöel, Romero, Norma B, Ferreiro, Ana

“…Central core disease (CCD) and multi-minicore disease (MmD) are muscle disorders characterized by foci of mitochondria depletion and sarcomere disorganization…”
Get full text

Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene by FISCHER, D, HERASSE, M, GUICHENEY, P, FARDEAU, M, ROMERO, N. B, FERREIRO, A, BARRAGAN-CAMPOS, H. M, CHIRAS, J, VIOLLET, L, MAUGENRE, S, LEROY, J.-P, MONNIER, N, LUNARDI, J

“…To characterize the muscle involvement of patients with central core disease (CCD) caused by mutations in the ryanodine receptor 1 gene (RYR1) and to compare…”
Get full text

Alteration of Sarcoplasmic Reticulum Ca2+ Release in Skeletal Muscle from Calpain 3-Deficient Mice by Richard, Isabelle, Dayanithi, Govindan, Viero, Cédric, Mazuc, Elsa, Mallie, Sylvie, Valmier, Jean, Bourg, Nathalie, Herasse, Muriel, Marty, Isabelle, Lefranc, Gérard, Mangeat, Paul, Baghdiguian, Stephen

“…Mutations of Ca2+-activated proteases (calpains) cause muscular dystrophies. Nevertheless, the specific role of calpains in Ca2+ signalling during the onset of…”
Get full text

Calpain 3 mRNA expression in mice after denervation and during muscle regeneration by Stockholm, D, Herasse, M, Marchand, S, Praud, C, Roudaut, C, Richard, I, Sebille, A, Beckmann, J S

“…Lack of functional calpain 3 in humans is a cause of limb girdle muscular dystrophy, but the function(s) of calpain 3 remain(s) unknown. Special muscle…”
Get more information

Alteration of Sarcoplasmic Reticulum Ca 2 + Release in Skeletal Muscle from Calpain 3-Deficient Mice by Dayanithi, Govindan, Richard, Isabelle, Viero, Cédric, Mazuc, Elsa, Mallie, Sylvie, Valmier, Jean, Bourg, Nathalie, Herasse, Muriel, Marty, Isabelle, Lefranc, Gérard, Mangeat, Paul, Baghdiguian, Stephen

“…Mutations of Ca 2 + -activated proteases (calpains) cause muscular dystrophies. Nevertheless, the specific role of calpains in Ca 2 + signalling during the…”
Get full text

Alteration of Sarcoplasmic Reticulum [[PQ_REPLACE:[math]]]<mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"><mml:mrow><mml:msup > <mml:mrow><mml:mtext>Ca</mml:mtext></mml:mrow><mml:mrow><mml:mtext > 2 </mml:mtext><mml:mtext>+</mml:mtext></mml:mrow></mml:msup></mml:mr o w ></mml:math> Release in Skeletal Muscle from Calpain 3-Deficient Mice by Dayanithi, Govindan, Richard, Isabelle, Viero, Cedric, Mazuc, Elsa, Mallie, Sylvie, Valmier, Jean, Bourg, Nathalie, Herasse, Muriel, Marty, Isabelle, Lefranc, Gerard, Mangeat, Paul, Baghdiguian, Stephen

“…Mutations of [[PQ_REPLACE:[math]]]<mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"><mml:mrow><mml:msup >…”
Get full text