Общедоступные статьи - Mariz VainzofПодробнее...
3 статьи недоступны нигде
Sarcoglycanopathies: an update
M Vainzof, LS Souza, J Gurgel-Giannetti, M Zatz
Neuromuscular Disorders 31 (10), 1021-1027, 2021
Финансирование: Fundação de Amparo à Pesquisa do Estado de São Paulo
A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation
J Gurgel-Giannetti, LS Souza, GFM de Pádua Andrade, ...
Neuromuscular Disorders 31 (11), 1199-1206, 2021
Финансирование: 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
Финансирование: Fundação de Amparo à Pesquisa do Estado de São Paulo
19 статей доступны в некоторых источниках
Approach to the diagnosis of congenital myopathies
KN North, CH Wang, N Clarke, H Jungbluth, M Vainzof, JJ Dowling, ...
Neuromuscular disorders 24 (2), 97-116, 2014
Финансирование: US National Institutes of Health, UK Medical Research Council
Consensus statement on standard of care for congenital myopathies
CH Wang, JJ Dowling, K North, MK Schroth, T Sejersen, F Shapiro, ...
Journal of child neurology 27 (3), 363-382, 2012
Финансирование: 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
Финансирование: Fondazione Telethon, Italy
Mutation in the Scyl1 gene encoding amino‐terminal kinase‐like protein causes a recessive form of spinocerebellar neurodegeneration
WM Schmidt, C Kraus, H Höger, S Hochmeister, F Oberndorfer, M Branka, ...
EMBO reports 8 (7), 691-697, 2007
Финансирование: German Research Foundation
Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders
G Piluso, M Dionisi, F Del Vecchio Blanco, A Torella, S Aurino, ...
Clinical chemistry 57 (11), 1584-1596, 2011
Финансирование: Fondazione Telethon, Italy
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity
N Mokbel, B Ilkovski, M Kreissl, M Memo, CM Jeffries, M Marttila, ...
Brain 136 (2), 494-507, 2013
Финансирование: Australian Research Council, National Health and Medical Research Council …
Human Adipose Tissue Derived Pericytes Increase Life Span in Utrn tm1Ked Dmd mdx /J Mice
MC Valadares, JP Gomes, G Castello, A Assoni, M Pellati, C Bueno, ...
Stem Cell Reviews and Reports 10, 830-840, 2014
Финансирование: UK Medical Research Council
A novel complex neurological phenotype due to a homozygous mutation in FDX2
J Gurgel-Giannetti, DS Lynch, ARB Paiva, LT Lucato, G Yamamoto, ...
Brain 141 (8), 2289-2298, 2018
Финансирование: German Research Foundation, Swedish Research Council, UK Medical Research …
Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers
EJ Wyatt, AR Demonbreun, EY Kim, MJ Puckelwartz, AH Vo, ...
JCI insight 3 (9), 2018
Финансирование: US National Institutes of Health
Mitochondrial alterations in dynamin 2-related centronuclear myopathy
E Zanoteli, N Vergani, Y Campos, M Vainzof, ASB Oliveira, A d'Azzo
Arquivos de neuro-psiquiatria 67, 102-104, 2009
Финансирование: US National Institutes of Health
Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review
J Gurgel-Giannetti, G Oliveira, G Brasileiro Filho, P Martins, M Vainzof, ...
JAMA neurology 70 (2), 258-261, 2013
Финансирование: US National Institutes of Health
Satellite cells deficiency and defective regeneration in dynamin 2‐related centronuclear myopathy
CF Almeida, M Bitoun, M Vainzof
FASEB Journal 35 (4), e21346, 2021
Финансирование: Fundação de Amparo à Pesquisa do Estado de São Paulo
Nemaline myopathy in Brazilian patients: molecular and clinical characterization
J Gurgel-Giannetti, LS Souza, GL Yamamoto, M Belisario, M Lazar, ...
International Journal of Molecular Sciences 23 (19), 11995, 2022
Финансирование: Fundação de Amparo à Pesquisa do Estado de São Paulo, National Health and …
233rd ENMC International Workshop:: Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15–17 September 2017
W Lostal, JA Urtizberea, I Richard, A Alonso-Jiménez, RY Carlier, ...
Neuromuscular Disorders 28 (6), 540-549, 2018
Финансирование: National Institute of Health and Medical Research, France, Fondazione …
Predictive factors of the contracture test for diagnosing malignant hyperthermia in a Brazilian population sample: a retrospective observational study
JM de Mello, PV Andrade, JM Santos, ASB Oliveira, M Vainzof, ...
Brazilian Journal of Anesthesiology 73 (2), 145-152, 2023
Финансирование: Fundação de Amparo à Pesquisa do Estado de São Paulo
Central core disease: facial weakness differentiating biallelic from monoallelic forms
A Cotta, LS Souza, E Carvalho, LN Feitosa, A Cunha Jr, MM Navarro, ...
Genes 13 (5), 760, 2022
Финансирование: Fundação de Amparo à Pesquisa do Estado de São Paulo
Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report
T Cuperman, SA Fernandes, NCV Lourenço, LU Yamamoto, HCA Silva, ...
BMC research notes 7, 1-5, 2014
Финансирование: US National Institutes of Health
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