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 | 1222 | 2004 |
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 | 1174 | 1995 |
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 | 1114 | 2000 |
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 | 802 | 1998 |
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 | 621 | 2018 |
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 | 579 | 2008 |
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 | 548 | 1996 |
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 | 490 | 2021 |
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 | 432 | 2000 |
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 | 369 | 2010 |
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 | 363 | 2021 |
Calpains and disease M Zatz, A Starling New England Journal of Medicine 352 (23), 2413-2423, 2005 | 322 | 2005 |
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 | 322 | 2000 |
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 | 320 | 2013 |
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 | 292 | 1998 |
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 | 267 | 2015 |
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 | 263 | 2008 |
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 | 261 | 2011 |
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 | 238 | 2017 |
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 | 235 | 2007 |