Author Search Results

1

What neurodegeneration, brain malformation and cancer might have in common? An abnormal gene expression!

by Kok,Fernando

Published 2011

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2

Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11

by Kok, Fernando

Published 2025

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3

X-linked levodopa-responsive parkinsonism-epilepsy syndrome: a novel PGK1 mutation and literature review

by Kok, Fernando

Published 2024

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4

Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings

by Kok, Fernando

Published 2023

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5

Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group

by Kok, Fernando

Published 2023

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6

Aseptic meningitis in Fabry disease due to a novel GLA variant: an expanded phenotype?

by Kok, Fernando

Published 2023

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7

Mystery solved after 23 years: M syndrome is PIGT-associated multiple congenital anomalies-hypotonia-seizures syndrome 3

by Kok, Fernando

Published 2022

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8

Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia

by Kok, Fernando

Published 2022

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9

Chronic stage of Marchiafava-Bignami disease

by Kok, Fernando

Published 2015

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10

Leukodystrophy with premature ovarian failure: Think on vanishing white matter disease (VWMD)

by Kok, Fernando

Published 2015

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11

Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome

by Kok, Fernando

Published 2014

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12

Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations

by Kok, Fernando

Published 2020

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13

Quantification of functional abilities in Rett syndrome: a comparison between stages III and IV

by Kok, Fernando

Published 2014

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14

As causas da deficiência física em municípios do nordeste brasileiro e estimativa de custos de serviços especializados

by Kok, Fernando

Published 2014

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15

Further diffusion tensor imaging contribution in horizontal gaze palsy and progressive scoliosis

by Kok, Fernando

Published 2009

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16

Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP

by Kok, Fernando

Published 2019

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17

Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN)

by Kok, Fernando

Published 2010

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18

Vitamin B12 deficiency in infancy as a cause of developmental regression

by Kok, Fernando

Published 2005

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19

Dificuldades no diagnóstico clínico e eletrencefalográfico de lipofuscinose ceróide neuronal

by Kok, Fernando

Published 2005

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20

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

by Kok, Fernando

Published 2020

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