Zobrazeno 1 - 10
of 56
pro vyhledávání: '"M, SACCOLITI"'
Autor:
M, SABAN, AM, ORLANDI, SI, DEUTSCH, F, PITOIA, A, LOWENSTEIN, A, CAVALLO, A, IOTTI, M, MONTEROS ALVI, N, TOLABA, M, NALLAR DERA, S, FIGURELLI, F, CARRIZO, A, COLOBRARO, G, GARCÍA TASCÓN, M, SACCOLITI, A, PAES DE LIMA, M, LENCIONI, I, CALIFANO, C, CABEZÓN
Publikováno v:
Revista argentina de endocrinología y metabolismo, Volume: 57, Issue: 2, Pages: 1-10, Published: JUN 2020
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______617::5686fc3107c177c9cc8b1c37bf82cdcc
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1851-30342020000200002&lng=en&tlng=en
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1851-30342020000200002&lng=en&tlng=en
Autor:
Johann Böhm, Ana Lia Taratuto, Xavière Lornage, Norma B. Romero, Mariela Bettini, Marcelo Rugiero, Jocelyn Laporte, M. Saccoliti, Hernan Gonorazky
Publikováno v:
Neuromuscular Disorders. 27:S221-S222
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a30708bfd28d4392fe49393e46bca587
https://doi.org/10.1016/j.nmd.2017.06.458
https://doi.org/10.1016/j.nmd.2017.06.458
Akademický článek
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Autor:
Fabiana Lubieniecki, Ana Lia Taratuto, V Ruggieri, D Dı́az, M. Schultz, M. Saccoliti, Alberto Dubrovsky
Publikováno v:
Neuromuscular Disorders. 9:86-94
We report clinical, biopsy and autopsy findings in a merosin-deficient congenital muscular dystrophy (CMD) infant with abnormal cortical gyration. Brain showed polymicrogyria and occipital agyria with marginal neuroglial heterotopia and inferior verm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e393a17e54dc2028aef093d0aac5313e
https://doi.org/10.1016/s0960-8966(98)00112-6
https://doi.org/10.1016/s0960-8966(98)00112-6
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
J. Mozzoni, Soledad Monges, Ana Lia Taratuto, E. Foncuberta, M. Saccoliti, Fabiana Lubieniecki, M. de Castro, A. Schenone
Publikováno v:
Neuromuscular Disorders. 26:S108
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d83fe8b56858bd8fda04f99172c98059
https://doi.org/10.1016/j.nmd.2016.06.085
https://doi.org/10.1016/j.nmd.2016.06.085
Autor:
Fabio Barroso, Alberto Dubrovsky, M. Saccoliti, Ana Lia Taratuto, Xavière Lornage, Jocelyn Laporte, Norma B. Romero
Publikováno v:
Neuromuscular Disorders. 26:S94
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::acfa61602f879df3058475cf495cf233
https://doi.org/10.1016/j.nmd.2016.06.034
https://doi.org/10.1016/j.nmd.2016.06.034
Autor:
Ana Lia Taratuto, Mario Massaro, Victor Ruggieri, Natalio Fejerman, María Herrero, M. Saccoliti, Gustavo Sevlever, Hugo A. Arroyo
Publikováno v:
American Journal of Medical Genetics. 57:144-149
We report on 30 cases of neuronal ceroid lipofuscinoses (NCL), mainly diagnosed in 1985-1993 in Argentina, whose population is predominantly of European descent. Twenty-four cases were late infantile Jansky-Bielschowsky (LINCL) and 6 were juvenile Sp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5de0261555b56c08127d040da2031d0
https://doi.org/10.1002/ajmg.1320570207
https://doi.org/10.1002/ajmg.1320570207
Autor:
F. Castro, Ana Lia Taratuto, M. Saccoliti, V. Leske, Johann Böhm, Jocelyn Laporte, Norma B. Romero, Edoardo Malfatti, P. Gravina, J. Mozzoni, Fabiana Lubieniecki, Soledad Monges
Publikováno v:
Neuromuscular Disorders. 24:896-897
Nebulin (NEB) is a sarcomeric structural protein. Mutations in NEB genes particularly cause autosomal recessive nemaline myopathy (NM) and core-rod myopathy. Clinical presentations range from a severe neonatal form to a mild adult-onset form as part
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::61198c67a29e456a8f390f1794be8346
https://doi.org/10.1016/j.nmd.2014.06.341
https://doi.org/10.1016/j.nmd.2014.06.341
Autor:
Miguel A. Riudavets, M. Saccoliti, L. Mesa, Salvatore DiMauro, Hans-Hilmar Goebel, Hasan O. Akman, Ana Lia Taratuto, Gustavo Sevlever, Naomi Arakaki
Publikováno v:
Neuromuscular disorders : NMD. 20(12)
The fatal infantile neuromuscular presentation of branching enzyme deficiency (glycogen storage disease type IV) due to mutations in the gene encoding the glycogen branching enzyme, is a rare but probably underdiagnosed cause of congenital hypotonia.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4739519e1130c416a1ffc013d3481088
https://pubmed.ncbi.nlm.nih.gov/20833045
https://pubmed.ncbi.nlm.nih.gov/20833045