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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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Differentially Activated Macrophages Orchestrate Myogenic Precursor Cell Fate During Human Skeletal Muscle Regeneration

Stem cells (Dayton, Ohio), 2013-02, Vol.31 (2), p.384-396

2013

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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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Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

Human mutation, 2019-11, Vol.40 (11), p.2021-2032

2019

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Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort

Journal of neurology, 2021-09, Vol.268 (9), p.3337-3343

2021

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De novo and inherited private variants in MAP1B in periventricular nodular heterotopia

PLoS genetics, 2018-05, Vol.14 (5), p.e1007281-e1007281

2018

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Mutation of plasma membrane Ca²⁺ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca²⁺ homeostasis

Proceedings of the National Academy of Sciences - PNAS, 2012-09, Vol.109 (36), p.14514-14519

2012

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Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human

Nature neuroscience, 2014-07, Vol.17 (7), p.923-933

2014

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Genetics and pathophysiology of mental retardation

European journal of human genetics : EJHG, 2006-06, Vol.14 (6), p.701-713

2006

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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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Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

European journal of human genetics : EJHG, 2020-10, Vol.28 (10), p.1403-1413

2020

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Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up

PloS one, 2009-02, Vol.4 (2), p.e4347-e4347

2009

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Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development

Human molecular genetics, 2018-01, Vol.27 (2), p.224-238

2018

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First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations

BMC medical genetics, 2017-11, Vol.18 (1), p.134-134, Article 134

2017

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TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis

Nature communications, 2019-05, Vol.10 (1), p.2129-2129, Article 2129

2019

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Further refinement of COL4A1 and COL4A2 related cortical malformations

European journal of medical genetics, 2018-12, Vol.61 (12), p.765-772

2018

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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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Cell-Autonomous Roles of ARX in Cell Proliferation and Neuronal Migration during Corticogenesis

The Journal of neuroscience, 2008-05, Vol.28 (22), p.5794-5805

2008

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X‐linked mental retardation: focus on synaptic function and plasticity

Journal of neurochemistry, 2009-04, Vol.109 (1), p.1-14

2009

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Mechanism of Microtubule Stabilization by Doublecortin

Molecular cell, 2004-06, Vol.14 (6), p.833-839

2004

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Next generation sequencing for molecular diagnosis of neuromuscular diseases

Acta neuropathologica, 2012-08, Vol.124 (2), p.273-283

2012

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Role of mental retardation-associated dystrophin-gene product Dp71 in excitatory synapse organization, synaptic plasticity and behavioral functions

PloS one, 2009-08, Vol.4 (8), p.e6574-e6574

2009

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

Differentially Activated Macrophages Orchestrate Myogenic Precursor Cell Fate During Human Skeletal Muscle Regeneration

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

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia

Mutation of plasma membrane Ca²⁺ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca²⁺ homeostasis

Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human

Genetics and pathophysiology of mental retardation

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

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up

Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations

TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis

Further refinement of COL4A1 and COL4A2 related cortical malformations

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

Cell-Autonomous Roles of ARX in Cell Proliferation and Neuronal Migration during Corticogenesis

X‐linked mental retardation: focus on synaptic function and plasticity

Mechanism of Microtubule Stabilization by Doublecortin

Next generation sequencing for molecular diagnosis of neuromuscular diseases

Role of mental retardation-associated dystrophin-gene product Dp71 in excitatory synapse organization, synaptic plasticity and behavioral functions

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

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