Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Valeria Kowaljow"'
Autor:
Valeria Kowaljow, Héctor Carminatti, Martin Radrizzani, Roxana V. Costanzo, Omar H. Pivetta, Claudia Perandones
Publikováno v:
Molecular Brain Research. 128:8-19
The PTEN (phosphatase and tensin homolog deleted on chromosome 10) tumor suppressor gene codifies a lipid inositol 3′-phosphatase that negatively regulates cell survival mediated by the phosphatidyl inositol 3′ kinase (PIP3-kinase)–protein kina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::842f32ebfabd27aeea5a577475d61314
https://doi.org/10.1016/j.molbrainres.2004.05.021
https://doi.org/10.1016/j.molbrainres.2004.05.021
Publikováno v:
Movement Disorders. 21:66-68
Slow saccades, postural/intention tremor, peripheral neuropathy, and decreased deep-tendon reflexes are valuable neurological signs for clinical suspicion of spinocerebellar ataxia type 2 (SCA2). We report the presence of abnormally brisk deep-tendon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da9f1a0222de04f5f07bc240a49caaac
https://doi.org/10.1002/mds.20636
https://doi.org/10.1002/mds.20636
Autor:
E. Daniel Corona, Alexandra Belayew, Eugénie Ansseau, Denise A. Figlewicz, Dalila Laoudj-Chenivesse, Cristina Arias, Nicolás Gonzalo Núñez, Ruddy Wattiez, Sébastien Sauvage, Valeria Kowaljow, Christel Matteotti, Oberdan Leo, Cecilia Conde, Alberto L. Rosa, Aline Marcowycz, Frédérique Coppée
Publikováno v:
Neuromuscular Disorders
Neuromuscular Disorders, 2007, 17 (8), pp.611-623. ⟨10.1016/j.nmd.2007.04.002⟩
Neuromuscular Disorders, 2007, 17 (8), pp.611-623. ⟨10.1016/j.nmd.2007.04.002⟩
International audience; Facioscapulohumeral muscular dystrophy (FSHD) patients carry contractions of the D4Z4-tandem repeat array on chromosome 4q35. Decrease in D4Z4 copy number is thought to alter a chromatin structure and activate expression of ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1857751a0d5475395629c07d528a378
https://pubmed.ncbi.nlm.nih.gov/17588759
https://pubmed.ncbi.nlm.nih.gov/17588759
Autor:
Cecilia Conde, Jeffery M. Vance, Guillermo Zeppa, Michael A. Hauser, Valeria Kowaljow, Alberto L. Rosa, Margaret A. Pericak-Vance, Udana Torian, Marcy C. Speer, Ana L. Taratuto
Limb-girdle muscular dystrophy 1A (LGMD1A [MIM 159000]) is an autosomal dominant form of muscular dystrophy characterized by adult onset of proximal weakness progressing to distal muscle weakness. We have reported elsewhere a mutation in the myotilin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4310a47da4808a0c6d5c598c6d4f1293
https://europepmc.org/articles/PMC378586/
https://europepmc.org/articles/PMC378586/
