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

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TISSUE-SPECIFIC STEM CELLS Differentially Activated Macrophages Orchestrate Myogenic Precursor Cell Fate During Human Skeletal Muscle Regeneration

M. Kjaer, J. Chelly, G. Pavlath, 2020 .

Severe early-onset impulsive compulsive behavior and psychosis in PLA2G6-related juvenile Parkinson's disease.

J. Chelly, M. Anheim, G. Rudolf, 2017, Parkinsonism & related disorders.

Remarkable effect of transdermal nicotine in children with CHRNA4-related autosomal dominant sleep-related hypermotor epilepsy

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The t(X;18)(p11.2;q11.2) translocation found in human synovial sarcomas involves two distinct loci on the X chromosome.

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Inherited microdeletion in Xp21.3–22.1 involved in non‐specific mental retardation

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A gene for dominant nonspecific X-linked mental retardation is located in Xq28.

P. Billuart, G. Ponsot, J. Chelly, 1997, American journal of human genetics.

Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation.

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Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features

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Neuronal JNK pathway activation by IL-1 is mediated through IL1RAPL1, a protein required for development of cognitive functions

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A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB.

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RT-PCR and Gene Expression

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Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

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In-frame deletion in MECP2 causes mild nonspecific mental retardation.

J. Fryns, T. Kleefstra, H. van Bokhoven, 2002, American journal of medical genetics.

Spectrum of MECP2 mutations in Rett syndrome.

P. Jonveaux, J. Chelly, L. Villard, 2002, Genetic testing.

Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome withoutMECP2 mutation: implications for the disease

N. Lévy, J. Chelly, M. Anvret, 2001, Journal of medical genetics.

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.

R. Pfundt, S. Szelinger, V. Narayanan, 2019, American journal of human genetics.

Dystrophin Gene Expression in Neuronal Tissues

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Expression of MyoD1 coincides with terminal differentiation in determined but inducible muscle cells.

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Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

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Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.

F. Rivier, A. Toutain, B. Echenne, 2009, Human molecular genetics.

Refining the phenotype associated with MEF2C point mutations

J. Chelly, B. Isidor, T. Bienvenu, 2012, neurogenetics.

A new model of experimental fibrosis in hindlimb skeletal muscle of adult mdx mouse mimicking muscular dystrophy

J. Chelly, A. Ferry, F. Chrétien, 2012, Muscle & nerve.

Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes

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Functional adult acetylcholine receptor develops independently of motor innervation in Sol 8 mouse muscle cell line.

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

Y. Humeau, N. Vitale, J. Chelly, 2009, Journal of neurochemistry.

Benign hereditary chorea: From benign to serious.

J. Chelly, M. Anheim, V. Laugel, 2020, Revue neurologique (Paris).

Novel anoctamin-3 missense mutation responsible for early-onset myoclonic dystonia.

N. Drouot, D. Guehl, P. Burbaud, 2019, Parkinsonism & related disorders.

A novel heterozygous ANO3 mutation responsible for myoclonic dystonia

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The location of DCX mutations predicts malformation severity in X-linked lissencephaly

N. Boddaert, C. Elie, J. Chelly, 2008, Neurogenetics.

The incidence of Rett syndrome in France.

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Short Article Mechanism of Microtubule Stabilization by Doublecortin

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MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression

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FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

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X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium.

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Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation

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Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models

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Assignment of the gene (EPLG2) encoding a high-affinity binding protein for the receptor tyrosine kinase elk to a 200-kilobasepair region in human chromosome Xq12.

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The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.

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In vitro follicular growth affects oocyte imprinting establishment in mice

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So-called ‘cryptogenic’ partial seizures resulting from a subtle cortical dysgenesis due to adoublecortin gene mutation

P. Jouk, J. Chelly, V. Portes, 2002, Seizure.

Loss‐of‐Function Mutations in NR4A2 Cause Dopa‐Responsive Dystonia Parkinsonism

N. Drouot, M. Baulac, M. Habert, 2020, Movement disorders : official journal of the Movement Disorder Society.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

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A shape analysis framework for neuromorphometry

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

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Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

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Genetics and pathophysiology of mental retardation

Jamel Chelly, Fiona Francis, J. Chelly, 2006, European Journal of Human Genetics.

Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle

Simon C Watkins, L. Kunkel, J. Chelly, 1991, Neuromuscular Disorders.

Quantitative estimation of minor mRNAs by cDNA-polymerase chain reaction. Application to dystrophin mRNA in cultured myogenic and brain cells.

Y. Berwald‐Netter, J. Kaplan, J. Chelly, 1990, European journal of biochemistry.

Somatic mutations of the beta-catenin gene are frequent in mouse and human hepatocellular carcinomas.

M. Buendia, P. Billuart, J. Chelly, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Illegitimate transcription: Its use in the study of inherited disease

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Transcription of the dystrophin gene in human muscle and non-muscle tissues

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A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

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

J. Chelly, H. Jilani, S. Hizem, 2017, BMC Medical Genetics.

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.

Albert David, Marie Gomot, Christian Andres, 2004, American journal of human genetics.

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.

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Doublecortin interacts with the ubiquitin protease DFFRX, which associates with microtubules in neuronal processes

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Doublecortin Interacts with μ Subunits of Clathrin Adaptor Complexes in the Developing Nervous System

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Doublecortin interacts with mu subunits of clathrin adaptor complexes in the developing nervous system.

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Doublecortin Is a Developmentally Regulated, Microtubule-Associated Protein Expressed in Migrating and Differentiating Neurons

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Doublecortin: the latest breakthrough in neuronal migration and cortical development

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Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

I. Nelson, M. Cossée, I. Richard, 2014, European Journal of Human Genetics.

Revised spectrum of mutations in sarcoglycanopathies

F. Leturcq, J. Kaplan, J. Chelly, 2008, European Journal of Human Genetics.

Mutations and phenotype in isolated glycerol kinase deficiency.

J. Chelly, A. Walker, P. Willems, 1996, American journal of human genetics.

Doublecortin functions at the extremities of growing neuronal processes.

A. Koulakoff, J. Chelly, F. Fauchereau, 2003, Cerebral cortex.

Developmental patterns in the expression of Myf5, MyoD, myogenin, and MRF4 during myogenesis.

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

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Highlighting the Dystonic Phenotype Related to GNAO1

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De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

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MECP2 mutations account for most cases of typical forms of Rett syndrome.

P. Jonveaux, J. Chelly, A. Arzimanoglou, 2000, Human molecular genetics.

MECP2 gene mutations in non‐syndromic X‐linked mental retardation: Phenotype–genotype correlation

A. Toutain, A. Verloes, V. Kalscheuer, 2003, American journal of medical genetics. Part A.

Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation

J. Chelly, F. Vialard, A. Ardalan, 2000, Clinical genetics.

2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes.

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A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation.

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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

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When a mid-intronic variation of DMD gene creates an ESE site

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Human disorders of cortical development: from past to present

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Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

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Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

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Monogenic causes of X-linked mental retardation

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Mapping of the X-Breakpoint Involved in a Balanced X;12 Translocation in a Female with Mild Mental Retardation

P. Billuart, D. Cohen, J. Chelly, 1997, European journal of human genetics : EJHG.

Active Caspase-8 Translocates into the Nucleus of Apoptotic Cells to Inactivate Poly(ADP-ribose) Polymerase-2*

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Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.

J. Gécz, Y. Humeau, P. Billuart, 2015, Human molecular genetics.

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

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Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes

M. Cossée, F. Leturcq, J. Chelly, 2013, European Journal of Human Genetics.

Complement factor I deficiency: a not so rare immune defect. Characterization of new mutations and the first large gene deletion

P. Soler-Palacín, M. López-Trascasa, F. Leturcq, 2012, Orphanet Journal of Rare Diseases.

Genotype–phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD–DMD database: a model of nationwide knowledgebase

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Detection of exonic copy‐number changes using a highly efficient oligonucleotide‐based comparative genomic hybridization‐array method

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WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

N. Boddaert, A. Verloes, P. Nitschké, 2017, Brain : a journal of neurology.

Mutations in α-Tubulin Cause Abnormal Neuronal Migration in Mice and Lissencephaly in Humans

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Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms.

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Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized

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J. Chelly, X. Jaglin, 2009, Trends in genetics : TIG.

Emerging major synaptic signaling pathways involved in intellectual disability

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A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

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

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Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

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A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.

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Somatic mutations of the b -catenin gene are frequent in mouse and human hepatocellular carcinomas

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Bi-allelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 over-activity and disordered cortical neuronal migration

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Distinct roles of doublecortin modulating the microtubule cytoskeleton

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

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Calpain 10 and development of diabetes mellitus in cystic fibrosis.

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MeCP2 deficiency is associated with impaired microtubule stability

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Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

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Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation

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Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.

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Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes

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Mutations in GDI1 are responsible for X-linked non-specific mental retardation

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

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Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.

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Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

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Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway.

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[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing].

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Variants in CUL4B are Associated with Cerebral Malformations

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Protein‐ and mRNA‐based phenotype–genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

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CDKL5 MUTATIONS IN BOYS WITH SEVERE ENCEPHALOPATHY AND EARLY-ONSET INTRACTABLE EPILEPSY

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Genetics and Physiopathology of X-linked Mental Retardation

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Genotype-phenotype correlations for the type 1 lissencephaly of eight Tunisian children Journal of Clinical Images and Medical Case Reports

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

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Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

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Genetics of X-Linked Mental Retardation

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Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation.

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Isolation of DNTR polymorphisms from yeast artificial chromosomes encompassing X chromosomal loci PGK1 and DXS56

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Progressive muscular dystrophies.

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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

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WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy

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Mechanism of microtubule stabilization by doublecortin.

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Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.

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The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform

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Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.

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A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation

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Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.

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DHPLC-based method for DNA methylation analysis of differential methylated regions from imprinted genes.

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CFTR illegitimate transcription in lymphoid cells: quantification and applications to the investigation of pathological transcripts

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A Postsynaptic Signaling Pathway that May Account for the Cognitive Defect Due to IL1RAPL1 Mutation

M. Giustetto, Y. Humeau, M. Passafaro, 2010, Current Biology.

Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia

B. Dutrillaux, G. Ommen, J. Kaplan, 1988, Human Genetics.

Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia

B. Dutrillaux, J. Kaplan, J. Chelly, 1987, Human Genetics.

De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy

B. Dutrillaux, J. Kaplan, J. Chelly, 1986, Human Genetics.

Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker.

C. Bertelson, L. Kunkel, J. D. den Dunnen, 1987, Genomics.

Liver insulin-like growth factor 2 methylation in hepatitis C virus cirrhosis and further occurrence of hepatocellular carcinoma.

P. Nahon, N. Ganne-Carrié, J. Chelly, 2008, World journal of gastroenterology.

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

Anthony P. Monaco, Zeynep Tümer, Jamel Chelly, 1993, Nature Genetics.

Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature

R. Favre, J. Chelly, N. Calmels, 2020, American journal of medical genetics. Part A.

Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized

J. Chelly, T. Bienvenu, 2006, Nature Reviews Genetics.

Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males

H. Ropers, J. Fryns, B. Hamel, 2005, European Journal of Human Genetics.

MECP2 is highly mutated in X-linked mental retardation.

H. Ropers, J. Fryns, A. Verloes, 2001, Human molecular genetics.

Two affected boys in a Rett syndrome family

J. Chelly, L. Villard, M. Tardieu, 2000, Neurology.

A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes.

J. Connor, J. Chelly, J. Yates, 1992, Human molecular genetics.

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C

J. Gécz, H. Ropers, J. Fryns, 2010, PathoGenetics.

Myogenic Progenitor Cells Exhibit Type I Interferon–Driven Proangiogenic Properties and Molecular Signature During Juvenile Dermatomyositis

C. Bodemer, S. Germain, D. Duffy, 2018, Arthritis & rheumatology.

Paroxysmal dyskinesia: When a PRRT2 variant hides a curable cause.

J. Chelly, M. Anheim, C. Tranchant, 2021, Revue neurologique.

Cloning the Wilson disease gene

A. Monaco, J. Chelly, 1993, Nature Genetics.

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Steffen Lenzner, Constance Scharff, Kirsten Hoffmann, 2003, Nature Genetics.

Loss of X-Linked Mental Retardation Gene Oligophrenin1 in Mice Impairs Spatial Memory and Leads to Ventricular Enlargement and Dendritic Spine Immaturity

G. Ramakers, M. Nosten-Bertrand, B. Giros, 2007, The Journal of Neuroscience.

Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1.

A. Monaco, J. Terwilliger, J. Chelly, 1995, American journal of human genetics.

Striking conservation of the brain-specific region of the dystrophin gene

J. Hugnot, J. Kaplan, J. Chelly, 2004, Mammalian Genome.

Characterization of the exon structure of the Menkes disease gene using vectorette PCR.

A. Monaco, Z. Tümer, J. Chelly, 1995, Genomics.

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

N. Drouot, L. Nguyen, N. Lebrun, 2017, Human molecular genetics.

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.

N. Drouot, P. V. Van Ness, A. Goldman, 2020, American journal of human genetics.

Highly clustered de novo frameshift variants in the neuronal splicing factor NOVA2 result in a specific abnormal C terminal part and cause a severe form of intellectual disability with autistic features

N. Drouot, A. Goldman, A. Telegrafi, 2019, bioRxiv.

Construction of a YAC contig spanning the Xq13.3 subband.

J. Gécz, A. Monaco, Y. Ishikawa-Brush, 1995, Genomics.

J. Chelly, N. Bahi-Buisson, X. Jaglin, 2012 .

Novel mutation of IL1RAPL1 gene in a nonspecific X‐linked mental retardation (MRX) family

J. Chelly, M. Nawara, J. Klapecki, 2008, American journal of medical genetics. Part A.

IL1-receptor accessory protein-like 1 (IL1RAPL1), a protein involved in cognitive functions, regulates N-type Ca2+-channel and neurite elongation

Y. Humeau, N. Vitale, J. Chelly, 2007, Proceedings of the National Academy of Sciences.

IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis.

J. Chelly, F. Fauchereau, R. Burgoyne, 2003, Human molecular genetics.

IL1RAPL1 controls inhibitory networks during cerebellar development in mice

Y. Humeau, P. Billuart, N. Vitale, 2009, The European journal of neuroscience.

X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family.

J. Chelly, C. Moraine, M. Raynaud, 1999, American journal of medical genetics.

Refining the phenotype associated with MEF2C point mutations

J. Chelly, B. Isidor, T. Bienvenu, 2013, neurogenetics.

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Kiely N. James, Martin W. Breuss, A. Caglayan, 2018, Nature Genetics.

Sequence variation in ultraconserved and highly conserved elements does not cause X‐linked mental retardation

S. Antonarakis, B. Conrad, M. Barker, 2007, American journal of medical genetics. Part A.

Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

D. Bonthron, M. Porteous, J. Chelly, 2007, Journal of Medical Genetics.

Protein Kinase A Deregulation in the Medial Prefrontal Cortex Impairs Working Memory in Murine Oligophrenin-1 Deficiency

Y. Humeau, E. Normand, P. Billuart, 2017, The Journal of Neuroscience.

Target-Specific Vulnerability of Excitatory Synapses Leads to Deficits in Associative Memory in a Model of Intellectual Disorder

Y. Humeau, E. Normand, F. Levet, 2013, The Journal of Neuroscience.

Genome-wide association study suggests a critical contribution of the adaptive immune system to chronic post-surgical pain

Irah L. King, S. Khoury, H. Kehlet, 2023, medRxiv.

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.

D. Smadja, P. Billuart, O. Dulac, 1997, Journal of medical genetics.

9th international workshop on fragile X syndrome and X-linked mental retardation.

G. Ramakers, D. Nelson, C. Schwartz, 2000, American journal of medical genetics.

Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown.

N. Lebrun, J. Chelly, Loïc Broix, 2014, Human molecular genetics.

New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.

N. Boddaert, C. Elie, A. Houdusse, 2013, Brain : a journal of neurology.

Early‐onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling

S. Julia, T. Félix, J. Chelly, 2020, Clinical genetics.

Further refinement of COL4A1 and COL4A2 related cortical malformations.

N. Boddaert, L. Pasquier, J. Chelly, 2018, European journal of medical genetics.

A circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbα

M. Passafaro, P. Billuart, J. Chelly, 2011, Nature Neuroscience.

Nonsyndromic X-linked mental retardation: where are the missing mutations?

J. Gécz, H. Ropers, M. Partington, 2003, Trends in genetics : TIG.

The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome

J. Chelly, J. Nectoux, M. Tardieu, 2008, Neurology.

Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes.

A. Boland, P. Nitschké, J. Deleuze, 2020, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

F. Tempia, A. Durr, S. Forlani, 2013, Journal of Medical Genetics.

Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin‐1 gene

M. Zilbovicius, C. Adamsbaum, N. Boddaert, 2004, American journal of medical genetics. Part A.

Doublecortin mutations cluster in evolutionarily conserved functional domains.

S. Pietrokovski, O. Reiner, S. Wolf, 2000, Human molecular genetics.

Survey of brain-expressed genes in a 7.3 mb region on proximal xp involved in non-syndromic X-linked mental retardation

J. Gécz, C. Scharff, S. Haas, 2003 .

A gene for non-specific X-linked mental retardation (MRX55) is located in Xp11.

J. Chelly, V. des Portes, C. Beldjord, 1998, Annales de Genetique.

The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain

P. Billuart, M. Ahmadian, A. Koulakoff, 2003, Molecular and Cellular Neuroscience.

TO JMG Z inc finger 81 ( ZNF 81 ) mutations associated with X-linked mental retardation

I. Janssen, J. Fryns, T. Kleefstra, 2004 .

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia

Alice C. Roy, Y. Paulignan, T. Nazir, 2014, Orphanet Journal of Rare Diseases.

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family

K. Devriendt, J. Fryns, J. Chelly, 2005 .

Construction of a highly annotated cosmid contig spanning 550Kb within the X-linked nonspecific mental retardation candidate region at Xp21.3-22.1.

J. Weissenbach, T. Bruls, P. Marynen, 1999, American journal of medical genetics.

Refined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific X-linked mental retardation gene (MRX54).

J. Chelly, V. des Portes, L. B. Jemaa, 1999, American journal of medical genetics.

Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement.

Marzena Kawczynski, M. Manière, A. Bloch-Zupan, 2019, Methods in molecular biology.

A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders.

H. Ropers, H. Van Esch, H. van Bokhoven, 2009, The Journal of molecular diagnostics : JMD.

X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11

S. Lenzner, H. Ropers, G. Turner, 2007, European Journal of Human Genetics.

TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment.

J. Chelly, C. Moraine, M. Gomot, 2002, American journal of medical genetics.

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

J. Gécz, C. Schwartz, N. Tommerup, 2005, Human Genetics.

X‐linked congenital ataxia: A new locus maps to Xq25‐q27.1

J. Opitz, E. Bertini, J. Chelly, 2008, American journal of medical genetics. Part A.

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

N. Drouot, Y. Hérault, B. Yalcin, 2019, Nature Communications.

Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis.

N. Boddaert, J. Chelly, I. Desguerre, 2012, European journal of medical genetics.

Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28

D. Figarella-Branger, N. Lévy, J. Chelly, 2000, European Journal of Human Genetics.

The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus

J. Chelly, S. Traynelis, Hongjie Yuan, 2020, Movement disorders : official journal of the Movement Disorder Society.

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

N. Drouot, L. Minotti, P. Kahane, 2020, European Journal of Human Genetics.

A new mouse model of ARX dup24 recapitulates the patients’ behavioral and fine motor alterations

Y. Hérault, T. Sorg, Y. Humeau, 2018, Human molecular genetics.

Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder

F. Rivier, Y. Dauvilliers, J. Chelly, 2019, Annals of clinical and translational neurology.

Expanding the clinical phenotype of patients with a ZDHHC9 mutation

J. Thevenon, V. Kalscheuer, L. Faivre, 2014, American Journal of Medical Genetics. Part A.

Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 Gene

P. Marynen, K. Devriendt, H. Ropers, 2003, American journal of medical genetics. Part A.

Analysis of molecular deletions with cDNA probes in patients with Duchenne and Becker muscular dystrophies.

J. Kaplan, J. Chelly, G. van Ommen, 1989, Genomics.

Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.

C. Fallet-Bianco, F. Chapon, L. Pasquier, 2008, Brain : a journal of neurology.

Mosaic DCX deletion causes subcortical band heterotopia in males

N. Boddaert, L. Vercueil, J. Chelly, 2012, neurogenetics.

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

N. Drouot, M. Koenig, F. Ory-Magne, 2021, Journal of Neurology.

Branching and nucleokinesis defects in migrating interneurons derived from doublecortin knockout mice.

P. Gaspar, C. Alvarez, C. Métin, 2006, Human molecular genetics.

Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24.

P. Billuart, G. Ponsot, J. Chelly, 1997, American journal of medical genetics.

Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency

G. Lenaers, J. Chelly, N. Leboucq, 2021, Neuropediatrics.

Alternative Transcripts of Dclk1 and Dclk2 and Their Expression in Doublecortin Knockout Mice

J. Chelly, F. Francis, C. Kappeler, 2007, Developmental Neuroscience.

A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients

Y. Paulignan, T. Nazir, N. Hadjikhani, 2016, PLoS ONE.

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

D. Zélénika, P. Nitschké, D. Lacombe, 2013, Nature Genetics.

Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency

C. Fallet-Bianco, M. Dhenain, G. Meyer, 2007, The Journal of comparative neurology.

Synaptic Maturation at Cortical Projections to the Lateral Amygdala in a Mouse Model of Rett Syndrome

Y. Humeau, J. Chelly, T. Bienvenu, 2010, PloS one.

Rapid reversal of impaired inhibitory and excitatory transmission but not spine dysgenesis in a mouse model of mental retardation

P. Saintot, P. Billuart, J. Chelly, 2012, The Journal of physiology.

A Golgi localization signal identified in the Menkes recombinant protein.

A. Monaco, J. Chelly, E. Levy, 1998, Human molecular genetics.

Inhibition of RhoA pathway rescues the endocytosis defects in Oligophrenin1 mouse model of mental retardation

M. Passafaro, P. Billuart, J. Chelly, 2009, Human molecular genetics.

A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3

M. Schaeffer, J. Chelly, M. Anheim, 2016, BMC Neurology.

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family.

K. Devriendt, H. Van Esch, J. Fryns, 2004, European journal of medical genetics.

FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis

D. Hoffman, P. Worley, C. Skinner, 2018, Human molecular genetics.

Lack of the presynaptic RhoGAP protein oligophrenin1 leads to cognitive disabilities through dysregulation of the cAMP/PKA signalling pathway

Y. Humeau, A. Lüthi, P. Billuart, 2014, Philosophical Transactions of the Royal Society B: Biological Sciences.

Rare ACTG1 variants in fetal microlissencephaly.

C. Fallet-Bianco, A. Laquérriere, A. Boland, 2015, European journal of medical genetics.

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome

N. Drouot, H. Dollfus, J. Chelly, 2018, European Journal of Human Genetics.

Mutations in α-Tubulin Cause Abnormal Neuronal Migration in Mice and Lissencephaly in Humans

Steve D. M. Brown, D. Keays, J. Flint, 2007, Cell.

Human Mutation

Anne de Saint Martin, I. Scheffer, H. Mefford, 2019 .

Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells

K. Flanigan, P. Mangeot, M. Peschanski, 2015, Skeletal Muscle.

De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia

N. Drouot, J. Chelly, A. Piton, 2022, Movement disorders : official journal of the Movement Disorder Society.

Reply to “PPP2R5D Genetic Mutations and Early Onset Parkinsonism”

W. Chung, N. Drouot, C. Blauwendraat, 2020, Annals of neurology.

Vertebrate genome evolution and the zebrafish gene map

Margaret R. Thomson, J. Lupski, A. Force, 1998, Nature Genetics.

Major synaptic signaling pathways involved in intellectual disability

P. Billuart, J. Chelly, A. Pavlowsky, 2012, Molecular Psychiatry.

Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome

Juliette Nectoux, Nadia Bahi-Buisson, Jamel Chelly, 2009, European Journal of Human Genetics.

Characterisation of molecular DNA rearrangements within the Xq12-q13.1 region, in three patients with X-linked hypohidrotic ectodermal dysplasia (EDA).

N. Brockdorff, J. Gault, A. Clarke, 1993, Human Molecular Genetics.

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

Thomas Bourgeron, Richard Delorme, Marion Leboyer, 2011, BMC Medical Genetics.

Astrocyte Transcriptome from the Mecp2308-Truncated Mouse Model of Rett Syndrome

P. Billuart, V. Baud, J. Chelly, 2015, NeuroMolecular Medicine.

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

N. Drouot, Y. Hérault, B. Yalcin, 2019, Nature Communications.

Correction to: The landscape of epilepsy-related GATOR1 variants

Anne de Saint Martin, A. Biraben, F. Bartolomei, 2018, Genetics in Medicine.

Correction: Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes

M. Lythgoe, D. Watkins-Chow, W. Pavan, 2015, PLoS Genetics.

From Fragile X Mental Retardation Protein to Rac1 GTPase New Insights from Fly CYFIP

P. Billuart, J. Chelly, 2003, Neuron.

Detection of exonic copy‐number changes using a highly efficient oligonucleotide‐based comparative genomic hybridization‐array method

M. Cossée, F. Leturcq, J. Chelly, 2008, Human mutation.

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

J. Gécz, J. Hettema, J. Fryns, 2010, Molecular Psychiatry.

Characterization of a 1.0 Mb YAC contig spanning two chromosome breakpoints related to Menkes disease.

A. Monaco, Z. Tümer, N. Tommerup, 1992, Human molecular genetics.

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

M. Kjaer, J. Chelly, G. Pavlath, 2013, Stem cells.

Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice.

A. Monaco, Z. Tümer, P. Glenister, 1994, Genomics.

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

L. Lagae, L. Hertz-Pannier, F. Rivier, 2008, Journal of Medical Genetics.

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

C. Fallet-Bianco, F. Artiguenave, F. Rivier, 2015, European Journal of Human Genetics.

A novel recurrent LIS1 splice site mutation in classic lissencephaly

N. Boddaert, J. Chelly, J. Steffann, 2017, American journal of medical genetics. Part A.

corr igenda Corrigendum : Mutations in TUBG 1 , DYNC 1 H 1 , KIF 5 C and KIF 2 A cause malformations of cortical development and microcephaly

D. Zélénika, P. Nitschké, D. Lacombe, 2013 .

X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter.

E. Bertini, P. Billuart, J. Chelly, 1996, American journal of medical genetics.