Zobrazeno 1 - 10
of 60
pro vyhledávání: '"J.A. Martinez-Matos"'
Publikováno v:
Neuromuscular Disorders. 18:974-978
Mutations in the Mitofusin 2 (MFN2) gene have been related to the axonal type of Charcot-Marie-Tooth type 2 (CMT 2A). We report the first two Spanish families with CMT 2 and mutations in MFN2 gene. Molecular studies of one family with late onset reve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89acddf2fd81e30a28b5501e3ccb01a2
https://doi.org/10.1016/j.nmd.2008.09.006
https://doi.org/10.1016/j.nmd.2008.09.006
Autor:
M.A. Albertí, J.A. Narváez, S. Martinez-Yélamos, J.A. Martinez-Matos, L.M. Cano, C. Gamez, A. Vidaller, A. Fernandez
Publikováno v:
European Journal of Radiology. 76:180-182
In POEMS syndrome the identification and biopsy of an osteosclerotic lesion or a lymph node typical of Castleman's disease (CD) is essential to establish the diagnosis and plan appropriate treatment. We report four patients in whom the localisation a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e575b0844b0f93fd9871208c3baa32b
https://doi.org/10.1016/j.ejrad.2009.06.004
https://doi.org/10.1016/j.ejrad.2009.06.004
Publikováno v:
Neuromuscular Disorders. 17:544-546
Dropped head sign is characterized by the gradual forward sagging of the head due to weakness of neck extensor muscles. This may be a prominent sign of several neuromuscular disorders and may be an isolated feature of myasthenia gravis (MG). We descr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e687fa9379899acaa6cdc48201254fa
https://doi.org/10.1016/j.nmd.2007.03.007
https://doi.org/10.1016/j.nmd.2007.03.007
Autor:
Ramon M. Pujol, Montse Olivé, J.A. Martinez-Matos, Pia Gallano, Isidro Ferrer, Laura Alias, Montserrat Baiget, Dolores Moreno
Publikováno v:
Neuromuscular disorders : NMD. 14(5)
Three members of a family were known to have persistent elevated serum CK levels without muscle weakness. A muscle biopsy showed a partial reduction of caveolin-3 at the sarcolemma of muscle fibres, which was confirmed by Western blot analysis. Mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bc12097b69ab41561b22109f0aebb23
https://pubmed.ncbi.nlm.nih.gov/15099591
https://pubmed.ncbi.nlm.nih.gov/15099591
Autor:
Ayush Dagvadorj, Isidro Ferrer, F Martinez, Encarna Laforet, Eva Farrero, Dolores Moreno, Josefina Alió, J.A. Martinez-Matos, Montse Olivé, Lev G. Goldfarb, Nyamkhishig Sambuughin, Patrick Vicart
Publikováno v:
Journal of the neurological sciences. 219(1-2)
Ten Spanish patients from six unrelated families diagnosed with desmin-related myopathy (DRM) were studied. The pattern of DRM inheritance was autosomal dominant in three families, autosomal recessive in one, and there was no family history in two ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90fe32572bf51c785c8920a135d39e70
https://pubmed.ncbi.nlm.nih.gov/15050448
https://pubmed.ncbi.nlm.nih.gov/15050448
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 80:674-675
We report two patients with upper limb neuropathic features. Nerve conduction studies demonstrated a reduction in sensory nerve action potentials, and motor electoneurography revealed conduction block suggesting a multifocal acquired demyelinating se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9810f3c93380dd3193859f5c217728f6
https://doi.org/10.1136/jnnp.2008.170597
https://doi.org/10.1136/jnnp.2008.170597
Autor:
O. Carmona, Lev G. Goldfarb, Montse Olivé, J.A. Martinez-Matos, Isidro Ferrer, Aleksey Shatunov
Publikováno v:
Neuromuscular Disorders. 18:817
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bdfeebbeeeeb5212e0b791c0c030de59
https://doi.org/10.1016/j.nmd.2008.06.321
https://doi.org/10.1016/j.nmd.2008.06.321
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