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Fernando Kok
Fernando Kok
Professor Associado, Departamento de Neurologia da FMUSP
Verified email at mendelics.com.br
Title
Cited by
Cited by
Year
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
11832004
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis
MA Willemsen, MM Verbeek, EJ Kamsteeg, JF de Rijk-van Andel, A Aeby, ...
Brain 133 (6), 1810-1822, 2010
2312010
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported
GHB Maegawa, T Stockley, M Tropak, B Banwell, S Blaser, F Kok, ...
Pediatrics 118 (5), e1550-e1562, 2006
2072006
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis
GHB Maegawa, M Tropak, J Buttner, T Stockley, F Kok, JTR Clarke, ...
Journal of biological chemistry 282 (12), 9150-9161, 2007
1982007
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ...
Nature communications 10 (1), 3094, 2019
1832019
A clinical study of 77 patients with mucopolysaccharidosis type II
IVD Schwartz, MG Ribeiro, JG Mota, MBP Toralles, P Correia, D Horovitz, ...
Acta Paediatrica 96, 63-70, 2007
1722007
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome
OT Suzuki, AL Sertié, VM Der Kaloustian, F Kok, M Carpenter, J Murray, ...
The American Journal of Human Genetics 71 (6), 1320-1329, 2002
1532002
Altered expression of ALDP in X-linked adrenoleukodystrophy.
PA Watkins, SJ Gould, MA Smith, LT Braiterman, HM Wei, F Kok, ...
American journal of human genetics 57 (2), 292, 1995
1511995
Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations
ACV Krepischi-Santos, AM Vianna-Morgante, FS Jehee, ...
Cytogenetic and genome research 115 (3-4), 254-261, 2006
1412006
Impact of molecular mechanisms, including deletion size, on Prader–Willi syndrome phenotype: study of 75 patients
MC Varela, F Kok, N Setian, CA Kim, CP Koiffmann
Clinical genetics 67 (1), 47-52, 2005
1412005
Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects
MC Varela, F Kok, PA Otto, CP Koiffmann
European Journal of Human Genetics 12 (12), 987-992, 2004
1352004
Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP
A Van Dijck, AT Vulto-van Silfhout, E Cappuyns, IM van der Werf, ...
Biological psychiatry 85 (4), 287-297, 2019
1272019
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
1272014
Mutational analysis of patients with X‐linked adrenoleukodystrophy
F Kok, S Neumann, CO Sarde, S Zheng, KH Wu, HM Wei, J Bergin, ...
Human mutation 6 (2), 104-115, 1995
1251995
Epilepsy in patients with Angelman syndrome caused by deletion of the chromosome 15q11-13
KD Valente, CP Koiffmann, C Fridman, M Varella, F Kok, JQ Andrade, ...
Archives of neurology 63 (1), 122-128, 2006
1162006
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
C Marini, A Porro, A Rastetter, C Dalle, I Rivolta, D Bauer, R Oegema, ...
Brain 141 (11), 3160-3178, 2018
1152018
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type
C Nogueira, C Aiello, R Cerone, E Martins, U Caruso, I Moroni, C Rizzo, ...
Molecular genetics and metabolism 93 (4), 475-480, 2008
1082008
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
P Mohassel, S Donkervoort, MA Lone, M Nalls, K Gable, SD Gupta, ...
Nature medicine 27 (7), 1197-1204, 2021
1022021
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita
G Ravenscroft, F Nolent, S Rajagopalan, AM Meireles, KJ Paavola, ...
The American Journal of Human Genetics 96 (6), 955-961, 2015
1022015
Vitamin B12 deficiency in infancy as a cause of developmental regression
EB Casella, M Valente, JM de Navarro, F Kok
Brain and Development 27 (8), 592-594, 2005
1002005
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