Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Laura Jarre"'
Publikováno v:
Brain and Development. 32:579-582
Since the age of three years the patient suffered from early drug-resistant partial epilepsy with electric status during slow sleep, owing to a micropolygyric malformation of the right fronto-temporo-parietal lobes. The hemispherotomy (when five year
Publikováno v:
Neuromuscular Disorders. 18:962-966
LAMP2, the causative gene of Danon disease, located on chromosome Xq24, encodes the lysosome-associated membrane protein-2 (LAMP-2). We describe clinical features and molecular data in an Italian patient with Danon disease. The patient had hyperCKemi
Autor:
A Levi-Gomes, T. Voit, Jean-Michel Vallat, Dominique Bonneau, Luba Kalaydjieva, A Urtizberea, J Brasa, A. Barois, Marc Jeanpierre, Laura Jarre, Annick Toutain, Ivailo Tournev, J M Warter, Josseline Kaplan, P Gallano, Bernard Echenne, Luciano Merlini, F. Leturcq, C. Navarro
Publikováno v:
Neurology. 54:1075-1079
Objective: To characterize the clinical phenotype of LGMD2C in gypsies. Background: Limb-girdle muscular dystrophy (LGMD) in gypsies of Western Europe is caused by a homozygous C283Y mutation on the same haplotype, suggesting a founder effect. Method
Autor:
Renato Mantegazza, Massimo Lanfossi, Valeria Confalonieri, Laura Jarre, P Boffi, Rita Barresi, Nardo Nardocci, Ferdinando Cornelio, Antonella Pini, Frediano Tezzon, Marina Mora, Elena Torchiana, Claudia Di Blasi, Lucia Morandi
Publikováno v:
Acta Neuropathologica. 94:28-35
We have investigated the expression, using immunohistochemistry, of beta- and gamma-sarcoglycans in the muscles of 20 patients in whom previous screening had revealed a deficiency of alpha-sarcoglycan. alpha-, beta- and gamma-sarcoglycans were absent
Autor:
F. Leturcq, Jacques S. Beckmann, Jon Andoni Urtizberea, K. Azibi, Rajagopal Krishnamoorthy, J.-C. Kaplan, Marc Jeanpierre, Luciano Merlini, C. Navarro, Kevin P. Campbell, Fernando M.S. Tomé, Laura Jarre, Annick Toutain, F. Piccolo, Catherine Dodé
Publikováno v:
Human Molecular Genetics. 5:2019-2022
We investigated the molecular basis of a severe form of early onset autosomal recessive muscular dystrophy with sarcoglycan (SG) deficiency in seven large Gypsy families living in different parts of Western Europe and apparently not closely related.
Autor:
Giuseppe Gobbi, Claudia Di Blasi, Laura Jarre, Marina Mora, Rita Barresi, F. Dworzak, Lucia Morandi, Renato Mantegazza, Carlo Bianchi, Daniel Jung, Ferdinando Cornelio, Antonella Pini, Kevin P. Campbell, Valeria Confalonieri, Carlo Antozzi, Yoshihide Sunada
Publikováno v:
Annals of Neurology. 39:196-202
We report adhalin deficiency in 8 patients with clinically diagnosed muscular dystrophy, dystrophic histopathological features, high plasma creatine kinase levels, normal expression of dystrophin, and marked variability of symptoms. Although the dist
Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype
Autor:
Adriana Mazzanti, S Daniel, Renato Mantegazza, Giovanni Piccolo, Antonella Pini, Valeria Confalonieri, Pia Bernasconi, Marina Mora, F. Dworzak, Luciano Merlini, Maria Rosa Balestrini, Rita Barresi, Laura Jarre, Carlo Antozzi, Ferdinando Cornelio, Claudia Di Blasi, Flavia Blasevich, Lucia Morandi, Raffaella Brugnoni
Publikováno v:
Journal of the Neurological Sciences. 132:146-155
We have investigated protein expression and genotype in 59 Becker muscular dystrophy (BMD) patients. The aim was to identify possible causes of the marked variability in phenotype in patients with similar deletions/mutations. The patients were examin
Publikováno v:
Scopus-Elsevier
We report a 2-year-old male with aplasia cutis congenita of the scalp, epibulbar dermoids, strabismus and macrocephaly. In our opinion, he is affected by the Oculo-Ectodermal syndrome first described by Toriello et al. (1993). Am J Med Genet 45:764-7
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 13(1)
Merosin-deficient congenital muscular dystrophy (MD) type 1A (MDC1A) is one of the most frequent forms of CMD in Western countries. The classical form, characterized by a total lack of laminin α 2 chain expression, usually shows severe clinical feat
Publikováno v:
American Journal of Medical Genetics. 71:226-228
A Dandy-Walker-like malformation was observed in a retarded girl who had signs of hidrotic ectodermal dysplasia. This is the third report of the rare triad ectodermal dysplasia-CNS malformation-mental retardation. We observed additional findings, suc