Articoli con mandati relativi all'accesso pubblico - Zatz MUlteriori informazioni
Non disponibili pubblicamente: 7
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
Mandati: Swiss National Science Foundation, US National Institutes of Health, German …
Sarcoglycanopathies: an update
M Vainzof, LS Souza, J Gurgel-Giannetti, M Zatz
Neuromuscular Disorders 31 (10), 1021-1027, 2021
Mandati: Fundação de Amparo à Pesquisa do Estado de São Paulo
The 90 plus: longevity and COVID-19 survival
M Zatz, MVR Silva, MV de Castro, MS Naslavsky
Molecular Psychiatry 27 (4), 1936-1944, 2022
Mandati: Fundação de Amparo à Pesquisa do Estado de São Paulo
Report of a young patient with brain calcifications with a novel homozygous MYORG variant
SH Sadok, RL Borges-Medeiros, DF de Oliveira, M Zatz, JRM de Oliveira
Gene 859, 147213, 2023
Mandati: Fundação de Amparo à Pesquisa do Estado de São Paulo
Apolipoprotein E ε2 allele is associated with lower risk of carotid artery obstruction in a population-based autopsy study
RS Paradela, DS Farias-Itao, REP Leite, CA Pasqualucci, LT Grinberg, ...
Journal of Stroke and Cerebrovascular Diseases 32 (9), 107229, 2023
Mandati: Fundação de Amparo à Pesquisa do Estado de São Paulo
Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita
LS Souza, P Calyjur, AF Ribeiro, J Gurgel-Giannetti, RCM Pavanello, ...
Journal of Molecular Neuroscience, 1-6, 2021
Mandati: Fundação de Amparo à Pesquisa do Estado de São Paulo
Discover Mental Health
MR Passos‑Bueno, CIS Costa, M Zatz
Mandati: Fundação de Amparo à Pesquisa do Estado de São Paulo
Disponibili pubblicamente: 79
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
Mandati: US National Institutes of Health, US Department of Veterans Affairs, Howard …
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
Mandati: US National Institutes of Health, Howard Hughes Medical Institute, National …
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
Mandati: US National Institutes of Health, Howard Hughes Medical Institute, National …
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
Mandati: US National Institutes of Health
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
Mandati: US National Science Foundation
Jagged 1 rescues the Duchenne muscular dystrophy phenotype
NM Vieira, I Elvers, MS Alexander, YB Moreira, A Eran, JP Gomes, ...
Cell 163 (5), 1204-1213, 2015
Mandati: US National Institutes of Health, Swedish Research Council
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies
J Manry, P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, ...
Proceedings of the National Academy of Sciences 119 (21), 2022
Mandati: Fundação de Amparo à Pesquisa do Estado de São Paulo, US National Institutes …
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
SC Hsu, RL Sears, RR Lemos, B Quintáns, A Huang, E Spiteri, L Nevarez, ...
neurogenetics 14, 11-22, 2013
Mandati: US National Institutes of Health, National Health and Medical Research …
Neuropathological diagnoses and clinical correlates in older adults in Brazil: A cross-sectional study
CK Suemoto, REL Ferretti-Rebustini, RD Rodriguez, REP Leite, L Soterio, ...
PLoS medicine 14 (3), e1002267, 2017
Mandati: US National Institutes of Health
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)
NM Vieira, MS Naslavsky, L Licinio, F Kok, D Schlesinger, M Vainzof, ...
Human molecular genetics 23 (15), 4103-4110, 2014
Mandati: Fondazione Telethon, Italy
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy
I Scionti, F Greco, G Ricci, M Govi, P Arashiro, L Vercelli, A Berardinelli, ...
The American Journal of Human Genetics 90 (4), 628-635, 2012
Mandati: US National Institutes of Health, Fondazione Telethon, Italy
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia
Q Zhang, D Matuozzo, J Le Pen, D Lee, L Moens, T Asano, J Bohlen, ...
Journal of Experimental Medicine 219 (8), 2022
Mandati: US National Institutes of Health, Howard Hughes Medical Institute, Research …
Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil
MS Naslavsky, MO Scliar, GL Yamamoto, JYT Wang, S Zverinova, T Karp, ...
Nature communications 13 (1), 1004, 2022
Mandati: Fundação de Amparo à Pesquisa do Estado de São Paulo, US National Institutes …
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