J. Gurgel-Giannetti
发表
C. M. Siqueira,
J. Gurgel-Giannetti,
2011,
Revista da Associacao Medica Brasileira.
S. Sanna-Cherchi,
M. Hirano,
C. Garone,
2017,
Journal of child neurology.
M. Zatz,
M. Vainzof,
J. Gurgel-Giannetti,
2021,
Neuromuscular Disorders.
J. Gurgel-Giannetti,
M. Viana,
J. N. Januário,
2015,
JIMD reports.
S. Dimauro,
J. Gurgel-Giannetti,
2005,
Current opinion in neurology.
M. Zatz,
M. Vainzof,
J. Gurgel-Giannetti,
2007,
Muscle & nerve.
C. Rosenberg,
J. Gurgel-Giannetti,
A. Krepischi,
2012,
European journal of medical genetics.
M. Bang,
M. Zatz,
U. Reed,
2002,
Muscle & nerve.
A. Martinez,
M. Resende,
E. Zanoteli,
2017,
Arquivos de neuro-psiquiatria.
E. Mercuri,
F. Muntoni,
T. Pierson,
2021,
Brain communications.
M. França,
W. Marques,
E. Zanoteli,
2020,
Neurology: Genetics.
R. Finkel,
J. Day,
M. Ryan,
2022,
Annals of clinical and translational neurology.
M. Zatz,
V. Lehtokari,
N. Laing,
2022,
International journal of molecular sciences.
S. Dimauro,
M. Oskoui,
J. Pascual,
2006,
Archives of neurology.
C. Bönnemann,
D. Bharucha-Goebel,
S. Donkervoort,
2016,
Journal of child neurology.
C. Bönnemann,
D. Bharucha-Goebel,
S. Donkervoort,
2016
.
M. Zatz,
A. Oliveira,
M. Vainzof,
2012,
Muscle and Nerve.
Ching H. Wang,
E. Bertini,
M. Schroth,
2012,
Journal of child neurology.
J. Lupski,
R. Gibbs,
S. Jhangiani,
2017,
American journal of medical genetics. Part A.
A. Vianna-Morgante,
H. Houlden,
R. Lill,
2018,
Brain : a journal of neurology.
E. Zanoteli,
M. Scliar,
E. Castelli,
2020,
Neurology: Genetics.
E. Zanoteli,
M. Scliar,
E. Castelli,
2022
.
E. Zanoteli,
U. Reed,
M. Vainzof,
2012,
Neuromuscular Disorders.
M. Vainzof,
J. Gurgel-Giannetti,
R. Bráulio,
2021,
Neuromuscular Disorders.
J. Gurgel-Giannetti,
A. Giannetti,
Sílvia Maria Ferreira Fraga,
2013,
Pediatric Neurosurgery.
C. Rochitte,
T. A. Magalhães,
M. Zatz,
2017,
JAMA cardiology.
K. Pelin,
M. Bang,
M. Zatz,
2001,
Neuromuscular Disorders.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
S. Scherer,
C. Cytrynbaum,
R. Weksberg,
2022,
Brain : a journal of neurology.
M. Vidailhet,
P. Damier,
L. Cif,
2022,
Movement disorders : official journal of the Movement Disorder Society.
A. Martinez,
S. Fagondes,
A. Nucci,
2022,
Arquivos de Neuro-Psiquiatria.
M. Zatz,
P. Pearson,
M. Vainzof,
2010,
Muscle & nerve.
S. Dimauro,
F. Cardoso,
M. Hirano,
2012,
Muscle & nerve.
J. Hardy,
A. Lees,
A. Singleton,
2010,
Journal of Neurology, Neurosurgery & Psychiatry.
M. Zatz,
S. M. van der Maarel,
J. Gurgel-Giannetti,
2004,
Journal of Medical Genetics.
Poliana C. M. Martins,
M. Vainzof,
M. Hirano,
2013,
JAMA neurology.
A. Martinez,
S. Fagondes,
A. Nucci,
2022,
Arquivos de Neuro-Psiquiatria.
G. Nogales-Gadea,
M. Vainzof,
J. Gurgel-Giannetti,
2013,
NeuroMolecular Medicine.
M. Zatz,
M. Vainzof,
J. Gurgel-Giannetti,
2021,
Journal of Molecular Neuroscience.
R. Finkel,
J. Day,
M. Ryan,
2023,
Journal of neuromuscular diseases.
Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients
M. Zatz,
U. Reed,
A. Oliveira,
2020,
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.
A. Coan,
H. V. D. L. Júnior,
J. Gurgel-Giannetti,
2021,
Arquivos de Neuro-Psiquiatria.
S. Pena,
J. Gurgel-Giannetti,
A. Giannetti,
2017,
Neuromuscular Disorders.
R. Lemmers,
J. Gurgel-Giannetti,
R. Frants,
2004,
Journal of Medical Genetics.
A. Martinez,
M. Resende,
E. Zanoteli,
2017,
Arquivos de Neuro-Psiquiatria.
J. Gurgel-Giannetti,
L. Yamamoto,
R. Pavanello,
2010,
Muscle & nerve.