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1
A novel complex neurological phenotype due to a homozygous mutation in FDX2
A novel complex neurological phenotype due to a homozygous mutation in FDX2
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Artigo 		Adicionar ao Meu Espaço

A novel complex neurological phenotype due to a homozygous mutation in FDX2

Juliana Gurgel-giannetti Fernando Kok

Brain v. 141, p. 2289-2298, 2018

Oxford 2018

Localização: FM - Fac. Medicina    (OPI/28154 2018 )(Acessar)

2
Cockayne syndrome type A novel mutations in eight typical patients
Cockayne syndrome type A novel mutations in eight typical patients
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Cockayne syndrome type A novel mutations in eight typical patients

Debora R. Bertola Henian Cao; Lilian M. J Albano; Fernando Kok; Maria Joaquina Marques-Dias; Chong A Kim; Robert A Hegele

Journal of human genetics Tokyo v.51, n.8, p.701-705, 2006

Tokyo 2006

Localização: FM - Fac. Medicina    (FM BCSEP 155 2006 )(Acessar)

3
Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy
Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy

Luciana Midori Inuzuka Lucia Ines Macedo-souza; Bruno Della-ripa; Fabiola Paoli Monteiro; Luiza Ramos; Joao Paulo Kitajima; Eliana Garzon; Fernando Kok

Brain & development v. 42, n. 9, p. 691-695, 2020

Amsterdam 2020

Acesso online. A biblioteca também possui exemplares impressos.

4
Cockayne syndrome type A novel mutations in eight typical patients
Cockayne syndrome type A novel mutations in eight typical patients
Material Type:
Artigo 		Adicionar ao Meu Espaço

Cockayne syndrome type A novel mutations in eight typical patients

Debora R. Bertola Henian Cao; Lilian M. J Albano; Fernando Kok; Maria Joaquina Marques-Dias; Chong A Kim; Robert A Hegele

Journal of human genetics Tokyo v.51, n.8, p.701-705, 2006

Tokyo 2006

Localização: FM - Fac. Medicina    (FM BCSEP 155 2006 )(Acessar)

5
Description of a previously unreported brazilian family with the Gerstmann - Straussler - Scheinker disease (PRP mutation - P102L)
Description of a previously unreported brazilian family with the Gerstmann - Straussler - Scheinker disease (PRP mutation - P102L)
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Description of a previously unreported brazilian family with the Gerstmann - Straussler - Scheinker disease (PRP mutation - P102L)

A. Studart Neto P Nobrega; J Smid; V Martins; M Landemberger; F Kok; L Castro; R Nitrini; Congresso Brasileiro de Neurologia (26. 2014 Curitiba, PR)

Arquivos de Neuro-Psiquiatria São Paulo v. 72, supl. 2, p. 163, res. P-579, 2014

São Paulo 2014

Localização: FM - Fac. Medicina    (BCBIB )(Acessar)

6
Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS
Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS
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Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS

Flavio Moura Rezende Filho Michael H Parkinson; Jose Luiz Pedroso; Roy Poh; Ingrid Faber; Charles Marques Lourenco; Wilson Marques Junior; Marcondes Cavalcante Franca Junior; Fernando Kok; Juliana M. Ferraz Sallum

Parkinsonism & related disorders v. 62, p. 148-155, 2019

Oxford 2019

Acesso online. A biblioteca também possui exemplares impressos.

7
Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants two new cases and review of the literature
Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants two new cases and review of the literature
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Artigo 		Adicionar ao Meu Espaço

Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants two new cases and review of the literature

Luciana Midori Inuzuka Lucia Ines Macedo-souza; Bruno Della-ripa; Katiane S. S Cabral; Fabiola Monteiro; Joao Paulo Kitajima; Luis Filipe de Souza Godoy; Daniel de Souza Delgado; Fernando Kok; Eliana Garzon

Brain & development v. 42, n. 2, p. 211-216, 2020

Amsterdam 2020

Acesso online. A biblioteca também possui exemplares impressos.

8
Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy
Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy
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Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy

Francesca Magrinelli Elisa Cali; Vinicius Lopes Braga; Uluc Yis; Hoda Tomoum; Hanan Shamseldin; Julian Raiman; Christoph Kernstock; Flavio Moura Rezende Filho; Fernando Kok

Movement disorders clinical practice v. 9, n. 2, p. 218-228, 2022

Hoboken 2022

Acesso online. A biblioteca também possui exemplares impressos.

9
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features
Material Type:
Artigo 		Adicionar ao Meu Espaço

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

A. M Molin J Andrieux; D. A Koolen; V Malan; M Carella; L Colleaux; V Cormier-Daire; A David; N de Leeuw; B Delobel; B Duban-Bedu; R Fischetto; F Flinter; S Kjaergaard; Fernando Kok; Ana Cristina Victorino Krepischi; C Le Caignec; C Mackie Ogilvie; S Maia; M Mathieu-Dramard; A Minnich; O Palumbo; F Papadia; R Pfundt; W Reardon; A Receveur; M Rio Ronsbro Darling,L; Carla Rosenberg; J Sá; L Vallee; C Vincent-Delorme; L Zelante; M-L Bondeson; G Annerén

Journal of Medical Genetics London v. 49, n. 2, p. 104-109, Feb. 2012

London 2012

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

  1. Kok, F
  2. Garzon, E
  3. Inuzuka, L
  4. Kim, C
  5. Kitajima, J

Neste Assunto:

  1. Genótipos
  2. Mutação Genética
  3. Doenças Neurodegenerativas
  4. Atrofia Muscular
  5. Neuroimagem

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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