Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Adolf Pou"'
Autor:
Michel Fardeau, Montse Olivé, Francesc Miralles, L. Gonzalez, Dirk Fischer, Juan Antonio Martínez Matos, Isidre Ferrer, Aleksey Shatunov, Lev G. Goldfarb, Judith Armstrong, F Martinez, Adolf Pou
Publikováno v:
Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelona
instname
Dipòsit Digital de la UB
Universidad de Barcelona
Desminopathy represents a subgroup of myofibrillar myopathies caused by mutations in the desmin gene. Three novel disease-associated mutations in the desmin gene were identified in unrelated Spanish families affected by cardioskeletal myopathy. A sel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6b29472b96f39b1329aecffafe8cccc
https://doi.org/10.1016/j.nmd.2007.02.009
https://doi.org/10.1016/j.nmd.2007.02.009
Autor:
Isidro Ferrer, Homa Tajsharghi, Benjamín Torrejón-Escribano, Saba Abdul-Hussein, Anders Oldfors, Dolores Moreno, Josefina Alió, Peter F.M. van der Ven, Dieter O. Fürst, Montse Olivé, José González-Costello, L. Gonzalez, Adolf Pou
Publikováno v:
Human molecular genetics. 24(13)
Protein aggregate myopathies (PAMs) define muscle disorders characterized by protein accumulation in muscle fibres. We describe a new PAM in a patient with proximal muscle weakness and hypertrophic cardiomyopathy, whose muscle fibres contained inclus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9963e29abf256ce93a401d478471a87
https://pubmed.ncbi.nlm.nih.gov/26345447
https://pubmed.ncbi.nlm.nih.gov/26345447
Autor:
Mercè Pineda, Carme Valls, Louise Pennells, Lorenzo Iughetti, David Price, Maria Antonia Vilaseca, Jaume Colomer, Fredrik Cederblad, Stephen M Shalet, A. J. Whatmore, Vallo Tillmann, Didier Jacqmin, Julio Montoya, Ana Playán, Tova Nave, Miquel Rissech, P. Brogan, M.O. Savage, M. Hubbard, Jean Yves Soret, Rafael Artuch, Jeremy K.H. Wales, C. Paganini, Olivier Bouchot, Zeev Hochberg, S. Bernasconi, Peter E. Clayton, Jan Gustafsson, Meir Lampit, Michael A. Preece, Carlos Pavía, Joëlle Blumberg, María Antonia González, Caroline Brain, G. Caselli, Adolf Pou, V.V. Khadilkar, Albert Aynsley-Green, Matthew S. Gill, Najiba Lahlou, Paz Briones, Lucia Ghizzoni, Joanne Soden, Richard Stanhope, Uwe Ewald, Marc Roger, Giorgio Radetti
Publikováno v:
Hormone Research in Paediatrics. 50:107-140
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ba09742a860c3350852c7c1e1db46f2e
https://doi.org/10.1159/000023246
https://doi.org/10.1159/000023246
Autor:
Mercè Pineda, Miquel Rissech, María Antonia González, Julio Montoya, Paz Briones, Ana Playán, Jaume Colomer, Rafael Artuch, Carme Valls, Adolf Pou, Carlos Pavía, Maria Antonia Vilaseca
Publikováno v:
Hormone Research in Paediatrics. 50:99-104
We present 2 cases of progressively severe Kearns-Sayre syndrome (KSS) with multisystemic affectation and atypical endocrine and cutaneous features, a 16-year-old patient (case 1) and a 5-year-old patient (case 2). Endocrine studies showed high gluco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b72fb523116a40befab6d15d2f5e6b9
https://doi.org/10.1159/000023243
https://doi.org/10.1159/000023243
Autor:
Federico Garcia Bragado, Laura Gonzalez-Mera, Ramón J. Zabalza, M. Huerta, Elías Maraví, Judith Armstrong, Lev G. Goldfarb, Jordi Pascual-Calvet, Eduardo Gutierrez Rivas, Carmen Navarro, Hee Suk Lee, Adolf Pou, Fabian Marquez, Carmen Paradas, Juan José Poza, I. Jericó, Montse Olivé, Maria Antonia Ramos Arroyo, Isidre Ferrer, Aleksey Shatunov, A. Martinez, Zagaa Odgerel
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
Myofibrillar myopathies (MFM) are a group of disorders associated with mutations in DES, CRY A B, M YOT, ZASP, FLNC, or BAG3 genes and characterized by disintegration of myofibrils and accumulation of degradation products into intracellular inclusion
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f59162b8e90c9de5363a74e5b59f8542
http://hdl.handle.net/2445/126272
http://hdl.handle.net/2445/126272
Publikováno v:
Journal of the European Academy of Dermatology and Venereology. 1:269-279
Four patients (three women and one man) suffering from multiple subcutaneous, painful, nodular tumors, diagnosed as multiple schwannomas of peripheral nerves (MCN), are presented. Two had radicular and VIII cranial nerve schwannomas associated with m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0a171b8713453b4291886129b3b2b73a
https://doi.org/10.1111/j.1468-3083.1992.tb00644.x
https://doi.org/10.1111/j.1468-3083.1992.tb00644.x
Publikováno v:
Annals of Neurology. 28:786-790
A pure sensory neuropathy due to neuronal damage in the gasserian and spinal ganglia has been described in patients with Sjogren's syndrome. Conventional electromyographic (EMG) studies can demonstrate the selective involvement of the sensory pathway
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ca821e71f29b888e3e250822345d1266
https://doi.org/10.1002/ana.410280609
https://doi.org/10.1002/ana.410280609
Publikováno v:
Archivos Españoles de Urología (Ed. impresa) v.59 n.1 2006
SciELO España. Revistas Científicas Españolas de Ciencias de la Salud
instname
SciELO España. Revistas Científicas Españolas de Ciencias de la Salud
instname
Objectives: To report the case of a patient diagnosed with tuberous sclerosis complex (TSC), describe its clinical features, diagnosis, and to attract attention on the fact that after 40 years of follow-up, the patient has presented practically all t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4267b1e636a95e76d3ab5b21ebc43f7c
http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S0004-06142006000100020
http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S0004-06142006000100020
Autor:
Saba Abdul-Hussein, Dieter O. Fürst, Isidro Ferrer, José González-Costello, Homa Tajsharghi, Anders Oldfors, Laura Gonzalez-Mera, Josefina Alió, Benjamín Torrejón-Escribano, Montse Olivé, P.F.M. van der Ven, Adolf Pou
Publikováno v:
Neuromuscular Disorders. 23:740-741
MuRF1 and MuRF3 are microtubule-associated proteins that localize to the sarcomeric M-band and Z-line of striated muscle. They are E3 ubiquitin ligases that mediate degradation of sarcomeric proteins and participate in diverse biological functions in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7f62b3319f4031e5e7025bdd5287ed7a
https://doi.org/10.1016/j.nmd.2013.06.383
https://doi.org/10.1016/j.nmd.2013.06.383
Autor:
Josep, Font, Manuel, Ramos-Casals, Gloria, de la Red, Adolf, Pou, Arnau, Casanova, Mario, García-Carrasco, Ricard, Cervera, José A, Molina, Josep, Valls, Albert, Bové, Miguel, Ingelmo, Francesc, Graus
Publikováno v:
The Journal of rheumatology. 30(7)
To study the clinical course, response to therapy, and longterm outcome of pure sensory neuropathy (PSN) in a series of patients with primary Sjögren's syndrome (SS) followed prospectively in our referral centers.We studied 15 patients (13 women, 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3a6472e6ba1f2fcd57605c04ade8e21a
https://pubmed.ncbi.nlm.nih.gov/12858457
https://pubmed.ncbi.nlm.nih.gov/12858457