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Rett syndrome: Revised diagnostic criteria and nomenclature

Annals of neurology, 2010-12, Vol.68 (6), p.944-950

2010

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Long‐term treatment with ganaxolone for seizures associated with cyclin‐dependent kinase‐like 5 deficiency disorder: Two‐year open‐label extension follow‐up

Epilepsia (Copenhagen), 2024-01, Vol.65 (1), p.37-45

2024

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Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy—Oldest case of a presymptomatic enzyme therapy

European journal of neurology, 2024-09, Vol.31 (9), p.e16324-n/a

2024

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Genetics and mechanisms leading to human cortical malformations

Seminars in cell & developmental biology, 2018-04, Vol.76, p.33-75

2018

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Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly

Nature communications, 2022-01, Vol.13 (1), p.16-16, Article 16

2022

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Cryo-EM Reveals How Human Cytoplasmic Dynein Is Auto-inhibited and Activated

Cell, 2017-06, Vol.169 (7), p.1303-1314.e18

2017

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The phenotypic spectrum of X‐linked, infantile onset ALG13‐related developmental and epileptic encephalopathy

Epilepsia (Copenhagen), 2021-02, Vol.62 (2), p.325-334

2021

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Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development

Nature communications, 2022-05, Vol.13 (1), p.2746-2746, Article 2746

2022

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EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopia

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.627-637

2019

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The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

Brain (London, England : 1878), 2014-06, Vol.137 (Pt 6), p.1676-1700

2014

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Developmental and benign movement disorders in childhood

Movement disorders, 2010-07, Vol.25 (10), p.1317-1334

2010

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Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation

American journal of medical genetics. Part A, 2017-03, Vol.173 (3), p.706-711

2017

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Neurological aspects of hyperinsulinism–hyperammonaemia syndrome

Developmental medicine and child neurology, 2008-12, Vol.50 (12), p.945-949

2008

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Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies

American journal of medical genetics. Part A, 2018-05, Vol.176 (5), p.1091-1098

2018

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A novel recurrent LIS1 splice site mutation in classic lissencephaly

American journal of medical genetics. Part A, 2017-02, Vol.173 (2), p.561-564

2017

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A human dynein heavy chain mutation impacts cortical progenitor cells causing developmental defects, reduced brain size and altered brain architecture

Neurobiology of disease, 2023-05, Vol.180, p.106085-106085, Article 106085

2023

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Linking MECP2 and pain sensitivity: The example of Rett syndrome

American journal of medical genetics. Part A, 2010-05, Vol.152A (5), p.1197-1205

2010

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De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

Brain (London, England : 1878), 2018-03, Vol.141 (3), p.698-712

2018

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Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size

Cells (Basel, Switzerland), 2023-07, Vol.12 (13), p.1807

2023

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Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females

PLoS genetics, 2009-02, Vol.5 (2), p.e1000381-e1000381

2009

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Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

American journal of human genetics, 2016-05, Vol.98 (5), p.993-1000

2016

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Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis

Neuropediatrics, 2020-08, Vol.51 (4), p.276-285

2020

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Epileptic spasms in congenital disorders of glycosylation

Epileptic disorders, 2017-03, Vol.19 (1), p.15-23

2017

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Rett syndrome: Revised diagnostic criteria and nomenclature

Long‐term treatment with ganaxolone for seizures associated with cyclin‐dependent kinase‐like 5 deficiency disorder: Two‐year open‐label extension follow‐up

Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy—Oldest case of a presymptomatic enzyme therapy

Genetics and mechanisms leading to human cortical malformations

Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

Cryo-EM Reveals How Human Cytoplasmic Dynein Is Auto-inhibited and Activated

The phenotypic spectrum of X‐linked, infantile onset ALG13‐related developmental and epileptic encephalopathy

Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development

EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopia

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

Developmental and benign movement disorders in childhood

Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation

Neurological aspects of hyperinsulinism–hyperammonaemia syndrome

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies

A novel recurrent LIS1 splice site mutation in classic lissencephaly

A human dynein heavy chain mutation impacts cortical progenitor cells causing developmental defects, reduced brain size and altered brain architecture

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)

Linking MECP2 and pain sensitivity: The example of Rett syndrome

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis

Epileptic spasms in congenital disorders of glycosylation

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