Výsledky vyhledávání - "MESH: Muscle Hypotonia"

Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

Autor: Neuray, C., Maroofian, R., Scala, M., Sultan, T., Pai, G. S., Mojarrad, M., Khashab, H. E., Deholl, L., Yue, W., Alsaif, H. S., Zanetti, M. N., Bello, O., Person, R., Eslahi, A., Khazaei, Z., Feizabadi, M. H., Efthymiou, S., El-Bassyouni, H. T., Soliman, D. R., Tekes, S., Ozer, L., Baltaci, V., Khan, S., Beetz, C., Amr, K. S., Salpietro, V., Jamshidi, Y., Alkuraya, F. S., Houlden, H., Groppa, S., Karashova, B. M., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Synaps, Group, Di Rosa, G., Aguennouz, M., Goraya, J. S., Mine, J., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Pineda-Marfa, M., Veggiotti, P., Ferrari, M. D., Verrotti, A., Marseglia, G., Savasta, S., Garcia-Silva, M., Ruiz, A. M., Garavaglia, B., Borgione, E., Portaro, S., Sanchez, B. M., Boles, R., Papacostas, S., Vikelis, M., Papanicolaou, E. Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N. N., Atawneh, O., Koutsis, G., Breza, M., Mangano, S., Scuderi, C., Morello, G., Stojkovic, T., Zollo, M., Heimer, G., Dauvilliers, Y. A., Striano, P., Al-Khawaja, I., Al-Mutairi, F., Sherifa, H.

Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona
Brain
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, 143 (8), pp.2388-2397. ⟨10.1093/brain/awaa178⟩
Publons

Mice lacking GAD1 show neonatal mortality, but the human phenotype associated with GAD1 disruption is poorly characterized. Neuray et al. describe six patients with biallelic GAD1 mutations, presenting with early-infantile onset epilepsy, neurodevelo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55108cc53157474a74f1616404044b9d
http://hdl.handle.net/11567/1022383

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Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

Publikováno v: European Journal of Medical Genetics
European Journal of Medical Genetics, 2011, 54 (2), pp.144-51. ⟨10.1016/j.ejmg.2010.11.003⟩
European Journal of Medical Genetics, Elsevier, 2011, 54 (2), pp.144-51. ⟨10.1016/j.ejmg.2010.11.003⟩

International audience; Chromosome 17q21.31 microdeletion was one of the first genomic disorders identified by chromosome microarrays. We report here the clinical and molecular characterization of a new series of 14 French patients with this microdel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e73e4b8bc8c61c35f4121fc7287abb8d
https://doi.org/10.1016/j.ejmg.2010.11.003

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Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation

Autor: Pascale Richard, Marie-Christine Arne-Bes, Marie-Bernadette Delisle, Thierry Levade, Dominique Figarella-Branger, François Heitz, Jean-François Pellissier, Emmanuelle Uro-Coste

Publikováno v: Neuromuscular Disorders
Neuromuscular Disorders, Elsevier, 2009, 19 (2), pp.163-6. ⟨10.1016/j.nmd.2008.11.012⟩
Neuromuscular Disorders, 2009, 19 (2), pp.163-6. ⟨10.1016/j.nmd.2008.11.012⟩

International audience; Myosin Storage Myopathies (MSM) have emerged as a new group of inherited myopathies with heterogenous clinical severity and age of onset. We have identified in a woman and her daughter, a pLeu1793Pro mutation in MYH7. This mut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::927e017c451d2ad8a0d25a9e7e308902
https://www.hal.inserm.fr/inserm-00408773

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Evidence for a new X-linked mental retardation gene in Xp21-Xp22: Clinical and molecular data in one family

Autor: Ronce, Nathalie, Raynaud, Martine, Toutain, Annick, Moizard, Marie-Pierre, Colleaux, C, Gendrot, Chantal, Briault, Sylvain, Moraine, Claude, Colleaux, Laurence

Publikováno v: American Journal of Medical Genetics
American Journal of Medical Genetics, Wiley, 1999, 83 (2), pp.132-137. ⟨10.1002/(SICI)1096-8628(19990312)83:23.0.CO;2-Y⟩

International audience; Linkage analysis was performed in three generations of a French family segregating a syndromal form of X-linked mental retardation. All affected males had neonatal hypotonia, seizures, muscular hypodevelopment, and severe ment

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::df12db7c10b6530ee74c029cd6f61959
https://hal.archives-ouvertes.fr/hal-02128843

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Molecular epidemiology of poliovirus infection in Tunisia

Autor: Sophie Guillot, Radu Crainic, Hinda Triki, Olfa Bahri, J. Ben Sassi, A. Slim, Z. Arrouji, Koussay Dellagi, H. G. A. M. Van Der Avoort, A. Arrouji

Publikováno v: Journal of Medical Microbiology
Journal of Medical Microbiology, 1999, 48, pp.569-576. ⟨10.1099/00222615-48-6-569⟩
Scopus-Elsevier
Journal of Medical Microbiology, Society for General Microbiology, 1999, 48, pp.569-576. ⟨10.1099/00222615-48-6-569⟩

International audience; This report is an overview of poliomyelitis surveillance in Tunisia from 1991 to 1996. In all, 2088 stool specimens, collected from 152 acute flaccid paralysis (AFP) cases and from 1747 of their healthy contacts were investiga

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fb3548f9e1f48f47e2e087e2265392b
https://hal-riip.archives-ouvertes.fr/pasteur-02017425/file/Molecular_epidemiology_of_poliovirus_infection_in_Tunisia.pdf

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Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 98 (4), pp.782-788. ⟨10.1016/j.ajhg.2016.03.016⟩

International audience; Through an international multi-center collaboration, 13 individuals from nine unrelated families and affected by likely pathogenic biallelic variants in TBC1-domain-containing kinase (TBCK) were identified through whole-exome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bf871dc3ecb1f4e679a295325f03d56

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