Zobrazeno 1 - 10
of 119
pro vyhledávání: '"A.L. Taratuto"'
Autor:
Luciana Leon Cejas, Laura Pirra, Fabiana Lubinieki, A.L. Taratuto, Mariano Socolovsky, Daniela Binaghi, Ricardo Reisin, Alberto Dubrovsky, Gabriela Peretti, Cintia Marchesoni, Ana Pardal, Soledad Monges
Publikováno v:
Journal of the Peripheral Nervous System. 23:23-28
Intraneural perineurioma (IP) is an under-recognized hypertrophic peripheral nerve tumor. It affects young patients involving frequently the sciatic nerve and its branches and presents with a progressive, painless and predominantly motor deficit. Mag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::807d35aec8afa902081fbaf62cbe7e55
https://doi.org/10.1111/jns.12240
https://doi.org/10.1111/jns.12240
Publikováno v:
Neurología (English Edition). 28:57-59
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::295eba305f08b5e89b5aac8c4be57777
https://doi.org/10.1016/j.nrleng.2011.04.007
https://doi.org/10.1016/j.nrleng.2011.04.007
Publikováno v:
Neurología. 28(1):57-59
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bcb96e03fe634d84ce19cd110fdeae2
Autor:
Brigitte Estournet, Bruno Eymard, O. Abath-Neto, Susana Quijano-Roy, Xavière Lornage, Michel Fardeau, John Rendu, A.L. Taratuto, Fabiana Lubieniecki, J. de Winter, Barbara Joureau, A. Chanut, Guy Brochier, Coen A.C. Ottenheijm, Jocelyn Laporte, A. Madelaine, Soledad Monges, E. Malfatti, Norma B. Romero, Johann Böhm
Publikováno v:
Neuromuscular Disorders. 26:S133
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6a028e00a7edce583bdce0d14422bdd2
https://doi.org/10.1016/j.nmd.2016.06.172
https://doi.org/10.1016/j.nmd.2016.06.172
Autor:
Carsten G. Bönnemann, Hans-Hilmar Goebel, Ying Hu, Lesley R Bridges, Joachim Schessl, Patricia Olmos, A.L. Taratuto, Roberta Battini, Francesco Muntoni, Mena Scavina, Steven S. Chin, Peter Standring, Graciela Espada, Kathryn J. Swoboda, Kevin M. Flanigan, Maria Saccoliti, Yaqun Zou, Baijayanta Maiti, Alberto Dubrovsky, Caroline Sewry, Christina Anne Mitchell, Marcela G Erro, Monica Robertella
We recently identified the X-chromosomal four and a half LIM domain gene FHL1 as the causative gene for reducing body myopathy, a disorder characterized by progressive weakness and intracytoplasmic aggregates in muscle that exert reducing activity on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4e42e0866b7fe3eda21b3c11bf1d601
http://hdl.handle.net/11568/951327
http://hdl.handle.net/11568/951327
Autor:
Leonardo Salviati, A.L. Taratuto, Salvatore DiMauro, Pilar Camaño, Jose Carlo, L. Monzon, Eduardo Bonilla, Michio Hirano, David Otaegui, S. Bacman, Carlos T. Moraes, Alberto Marina, Tuan Vu, Ali Naini, M Garcia, M. Garcia-Alvarez, Michelangelo Mancuso, Sabrina Sacconi
Publikováno v:
Neurology. 59(8)
Background: The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is an autosomal recessive disorder of early childhood characterized by decreased mtDNA copy number in affected tissues. Recently, MDS has been linked to mutations in two genes involve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1efc1b5f52e0eb18f44ad4a07d2530c4
https://pubmed.ncbi.nlm.nih.gov/12391347
https://pubmed.ncbi.nlm.nih.gov/12391347
Autor:
T. Stojkovic, Michel Fardeau, Guy Brochier, Soledad Monges, Fabiana Lubieniecki, Maud Beuvin, M.T. Viou, A.L. Taratuto, Brigitte Estournet, Anthony Behin, Susana Quijano-Roy, Jocelyn Laporte, E. Malfatti, B. Eymard, Johann Böhm, P. Laforêt, Norma B. Romero
Publikováno v:
Neuromuscular Disorders. 24:896
The congenital myopathies with protein aggregates and inclusions are a subgroup of structural congenital myopathies characterized by aggregation of proteins in muscle. They include Nemaline Myopathy, Core Rod Myopathy, Cap Disease, Reducing body Myop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6c110a2537cc1ffb46213c7035d8ab38
https://doi.org/10.1016/j.nmd.2014.06.340
https://doi.org/10.1016/j.nmd.2014.06.340
Autor:
Kayoko Saito, Francesco Muntoni, F Lubieniecki, V Ruggieri, Y Fukuyama, E Ferragut, Martin Brockington, A.L. Taratuto, F Meli, D Dı́az
Publikováno v:
Neuromuscular disorders : NMD. 11(6-7)
Classical merosin (α2 laminin)-positive congenital muscular dystrophy is a heterogeneous subgroup of disorders; a few cases characterized by severe mental retardation, brain involvement and no ocular abnormalities were called Fukuyama-like congenita
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c407886155987c234426b90d7a4d8b3
https://pubmed.ncbi.nlm.nih.gov/11525887
https://pubmed.ncbi.nlm.nih.gov/11525887
Autor:
Michael M. Rosenblatt, Denny L Cottle, Roberta Battini, Alexander R. Judkins, Janbernd Kirschner, Baijayanta Maiti, A.L. Taratuto, Kevin M. Flanigan, Caroline Sewry, Yaqun Zou, Carsten G. Bönnemann, Arupa Ganguly, Lynn A. Spruce, Ying Hu, Hans-Hilmar Goebel, Jeffrey A. Golden, Christina Anne Mitchell, Belinda S. Cowling, Steven S. Chin, Francesco Muntoni, J. Schessl, Meagan Jane Mcgrath
Publikováno v:
Neuromuscular Disorders. 18:725-726
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6f0e264a00e1dab9ee3a2335ce15c9a9
https://doi.org/10.1016/j.nmd.2008.06.012
https://doi.org/10.1016/j.nmd.2008.06.012
Autor:
L. Pirra, M. Sacolitti, Alberto Dubrovsky, Pascale Guicheney, Norma B. Romero, Marc Bitoun, A.L. Taratuto
Publikováno v:
Neuromuscular Disorders. 17:881-882
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1b7f5747cf37574af8eaf51a5f90b1cb
https://doi.org/10.1016/j.nmd.2007.06.401
https://doi.org/10.1016/j.nmd.2007.06.401