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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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Recurrent de novo mutations in CLDN5 induce an anion-selective blood–brain barrier and alternating hemiplegia

Brain (London, England : 1878), 2022-10, Vol.145 (10), p.3374-3382

2022

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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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Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia

Nature genetics, 2016-11, Vol.48 (11), p.1349-1358

2016

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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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Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities

Cell reports (Cambridge), 2012-12, Vol.2 (6), p.1554-1562

2012

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Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

European journal of human genetics : EJHG, 2013-04, Vol.21 (4), p.381-385

2013

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The role of ARX in cortical development

The European journal of neuroscience, 2006-02, Vol.23 (4), p.869-876

2006

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In vitro follicular growth affects oocyte imprinting establishment in mice

European journal of human genetics : EJHG, 2003-07, Vol.11 (7), p.493-496

2003

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Reply: De novo mutations in CLDN5: alternating hemiplegia of childhood or not?

Brain (London, England : 1878), 2023-08, Vol.146 (8), p.e59-e60

2023

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CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy

Human mutation, 2017-08, Vol.38 (8), p.932-941

2017

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Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability

BMC medical genetics, 2011-01, Vol.12 (1), p.17-17, Article 17

2011

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Novel KDM5B splice variants identified in patients with developmental disorders: Functional consequences

Gene, 2018-12, Vol.679, p.305-313

2018

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Loss of Function of KCNC1 is associated with intellectual disability without seizures

European journal of human genetics : EJHG, 2017-05, Vol.25 (5), p.560-564

2017

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Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

Human molecular genetics, 2010-11, Vol.19 (22), p.4462-4473

2010

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Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders

The Journal of clinical investigation, 2024-01, Vol.134 (2), p.1-15

2024

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Mutations in the novel gene FOPV are associated with familial autosomal dominant and non‐familial obliterative portal venopathy

Liver international, 2018-02, Vol.38 (2), p.358-364

2018

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De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures

Journal of medical genetics, 2020-02, Vol.57 (2), p.138

2020

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Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

Nature genetics, 2009-06, Vol.41 (6), p.746-752

2009

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Experience and Appreciation of Health Care Teams Regarding a New Model of Pharmaceutical Care in Long-Term Care Settings

Canadian journal on aging, 2022-09, Vol.41 (3), p.421-430

2022

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GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

Brain (London, England : 1878), 2010-11, Vol.133 (11), p.3194-3209

2010

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Anorexia nervosa is associated with Neuronatin variants

Psychiatric genetics, 2019-08, Vol.29 (4), p.103

2019

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

Recurrent de novo mutations in CLDN5 induce an anion-selective blood–brain barrier and alternating hemiplegia

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

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

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia

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

Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

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

The role of ARX in cortical development

In vitro follicular growth affects oocyte imprinting establishment in mice

Reply: De novo mutations in CLDN5: alternating hemiplegia of childhood or not?

CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability

Novel KDM5B splice variants identified in patients with developmental disorders: Functional consequences

Loss of Function of KCNC1 is associated with intellectual disability without seizures

Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders

Mutations in the novel gene FOPV are associated with familial autosomal dominant and non‐familial obliterative portal venopathy

De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures

Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

Experience and Appreciation of Health Care Teams Regarding a New Model of Pharmaceutical Care in Long-Term Care Settings

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

Anorexia nervosa is associated with Neuronatin variants

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