Search Results - "Herasse, M"

Stable Expression of Calpain 3 from a Muscle Transgene in vivo: Immature Muscle in Transgenic Mice Suggests a Role for Calpain 3 in Muscle Maturation by Spencer, M. J., Guyon, J. R., Sorimachi, H., Potts, A., Richard, I., Herasse, M., Chamberlain, J., Dalkilic, I., Kunkel, L. M., Beckmann, J. S.

“…Limb-girdle muscular dystrophy, type 2A (LGMD 2A), is an autosomal recessive disorder that causes late-onset muscle-wasting, and is due to mutations in the…”
Get full text

Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene by Herasse, M, Spentchian, M, Taillandier, A, Keppler-Noreuil, K, Fliorito, A N M, Bergoffen, J, Wallerstein, R, Muti, C, Simon-Bouy, B, Mornet, E

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

Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene by Spentchian, M., Merrien, Y., Herasse, M., Dobbie, Z., Gläser, D., Holder, S. E., Ivarsson, S-A., Kostiner, D., Mansour, S., Norman, A., Roth, J., Stipoljev, F., Taillemite, J-L., van der Smagt, J. J., Serre, J-L., Simon-Bouy, B., Taillandier, A., Mornet, E.

“…Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney alkaline…”
Get full text

Transition from pediatric to adult care: Recommendations of the French network for autoimmune and autoinflammatory diseases (FAI2R) by Georgin-Lavialle, S, Hentgen, V, Truchetet, M E, Romier, M, Hérasse, M, Maillard, H, Pha, M, Pillet, P, Reumaux, H, Duquesne, A, Larbre, J P, Belot, A

Get full text

Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus by Romero, N B, Herasse, M, Monnier, N, Leroy, J P, Fischer, D, Ferreiro, A, Viollet, L, Eymard, B, Laforêt, P, Monges, S, Lubieniecki, F, Taratuto, A L, Guicheney, P, Lunardi, J, Fardeau, M

“…We analysed the clinical, histochemical, ultrastructural and genetic data of patients affected by central core disease (CCD) studied during the last 20 years…”
Get more information

Perception des relations entre les jeunes patients et les médecins lors de la transition de la pédiatrie à la médecine adulte : résultat d’une enquête réalisée auprès de 100 médecins et 104 jeunes by Herasse, M., Romier, M., Hentgen, V., Duquesne, A., Larbre, J.P., Maillard, H., Pha, M., Pillet, P., Reumaux, H., Truchetet, M.E., Belot, A., Georgin-Lavialle, S.

“…Il n’existe pas de règles établies en France concernant la façon de communiquer avec les jeunes issus de la pédiatrie lors de la transition, notamment sur la…”
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

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

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

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

Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene: MUTATIONS IN BRIEF by Spentchian, M., Merrien, Y., Herasse, M., Dobbie, Z., Gläser, D., Holder, S. E., Ivarsson, S-A., Kostiner, D., Mansour, S., Norman, A., Roth, J., Stipoljev, F., Taillemite, J-L., van der Smagt, J. J., Serre, J-L., Simon-Bouy, B., Taillandier, A., Mornet, E.

Get full text

La transition de la pédiatrie à l’âge adulte : recommandations de prise en charge de la filière des maladies auto-immunes et auto-inflammatoires rares FAI2R by Georgin-Lavialle, S., Hentgen, V., Truchetet, M.E., Romier, M., Hérasse, M., Maillard, H., Pha, M., Pillet, P., Reumaux, H., Duquesne, A., Larbre, J.P., Belot, A.

“…Les maladies auto-immunes et auto-inflammatoires (MAI2) forment un groupe hétérogène de maladies dont certaines sont d’origine génétique. Elles peuvent se…”
Get full text

Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in mice by Richard, I, Roudaut, C, Marchand, S, Baghdiguian, S, Herasse, M, Stockholm, D, Ono, Y, Suel, L, Bourg, N, Sorimachi, H, Lefranc, G, Fardeau, M, Sébille, A, Beckmann, J 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