Следене
Zatz M
Заглавие
Позовавания
Позовавания
Година
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
AL Nishimura, M Mitne-Neto, HCA Silva, A Richieri-Costa, S Middleton, ...
The American Journal of Human Genetics 75 (5), 822-831, 2004
12502004
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
I Richard, O Broux, V Allamand, F Fougerousse, N Chiannilkulchai, ...
Cell 81 (1), 27-40, 1995
11841995
The genome sequence of the plant pathogen Xylella fastidiosa
AJG Simpson, FC Reinach, P Arruda, FA Abreu, M Acencio, R Alvarenga, ...
Nature 406 (6792), 151-157, 2000
11312000
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
R Bashir, S Britton, T Strachan, S Keers, E Vafiadaki, M Lako, I Richard, ...
Nature genetics 20 (1), 37-42, 1998
8231998
Genome-wide analyses identify KIF5A as a novel ALS gene
A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ...
Neuron 97 (6), 1267-1288, 2018
6662018
Multipotent stem cells from umbilical cord: cord is richer than blood!
M Secco, E Zucconi, NM Vieira, LLQ Fogaça, A Cerqueira, MDF Carvalho, ...
Stem cells 26 (1), 146-150, 2008
5772008
Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ–sarcoglycan gene
V Nigro, ES Moreira, G Piluso, M Vainzof, A Belsito, L Politano, AA Puca, ...
Nature genetics 14 (2), 195-198, 1996
5531996
Autoantibodies neutralizing type I IFNs are present in~ 4% of uninfected individuals over 70 years old and account for~ 20% of COVID-19 deaths
P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, J Manry, ...
Science immunology 6 (62), eabl4340, 2021
5412021
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
ES Moreira, TJ Wiltshire, G Faulkner, A Nilforoushan, M Vainzof, ...
Nature genetics 24 (2), 163-166, 2000
4422000
X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19
T Asano, B Boisson, F Onodi, D Matuozzo, M Moncada-Velez, ...
Science immunology 6 (62), eabl4348, 2021
3892021
Isolation, characterization, and differentiation potential of canine adipose-derived stem cells
NM Vieira, V Brandalise, E Zucconi, M Secco, BE Strauss, M Zatz
Cell transplantation 19 (3), 279-289, 2010
3712010
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
A Keller, A Westenberger, MJ Sobrido, M Garcia-Murias, A Domingo, ...
Nature genetics 45 (9), 1077-1082, 2013
3332013
Calpains and disease
M Zatz, A Starling
New England Journal of Medicine 352 (23), 2413-2423, 2005
3242005
Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure …
AL Sertié, V Sossi, AMA Camargo, M Zatz, C Brahe, MR Passos-Bueno
Human molecular genetics 9 (13), 2051-2058, 2000
3232000
Caveolin-3 in muscular dystrophy
EM McNally, E de Sá Moreira, DJ Duggan, CG Bönnemann, MP Lisanti, ...
Human molecular genetics 7 (5), 871-877, 1998
2971998
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
GL Yamamoto, M Aguena, M Gos, C Hung, J Pilch, S Fahiminiya, ...
Journal of medical genetics 52 (6), 413-421, 2015
2852015
Early transplantation of human immature dental pulp stem cells from baby teeth to golden retriever muscular dystrophy (GRMD) dogs: local or systemic?
I Kerkis, CE Ambrosio, A Kerkis, DS Martins, E Zucconi, SAS Fonseca, ...
Journal of Translational Medicine 6, 1-13, 2008
2712008
Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients
M Mitne-Neto, M Machado-Costa, MCN Marchetto, MH Bengtson, ...
Human molecular genetics 20 (18), 3642-3652, 2011
2692011
Exomic variants of an elderly cohort of Brazilians in the ABraOM database
MS Naslavsky, GL Yamamoto, TF de Almeida, SAM Ezquina, DY Sunaga, ...
Human mutation 38 (7), 751-763, 2017
2532017
Myocardial delayed enhancement by magnetic resonance imaging in patients with muscular dystrophy
MC Silva, ZMA Meira, J Gurgel Giannetti, MM da Silva, ...
Journal of the American College of Cardiology 49 (18), 1874-1879, 2007
2442007
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Статии 1–20