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List of works by Jean-Louis Mandel

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

scientific article

23andMed: Geneticist Jean-Louis Mandel's personal experience

scientific article published in May 2015

82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization

scientific article

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

scientific article published in October 2000

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

scientific article published on 09 November 2020

A PstI RFLP for the human retinoic acid receptor in 17q21

scientific article

A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern

scientific article

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

scientific article

A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P

scientific article

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

scientific article

A new family with anSLC9A6mutation expanding the phenotypic spectrum of Christianson syndrome

scientific article published on 03 June 2016

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

scientific article

A new human gene (DXS1357E) with ubiquitous expression, located in Xq28 adjacent to the adrenoleukodystrophy gene

scientific article

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy

scientific article

A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein

scientific article

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis

scientific article

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency

scientific article

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia

scientific article published on 01 January 2011

Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy

scientific article (publication date: November 1993)

Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis

scientific article

Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations ⬇️

scientific article published on December 1, 1991

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

scientific article

Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes.

scientific article

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics

scientific article

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

scientific article published on 01 October 2018

Assignment of NUFIP1 (nuclear FMRP interacting protein 1) gene to chromosome 13q14 and assignment of a pseudogene to chromosome 6q12.

scientific article published in January 2000

Ataxia with Isolated Vitamin E Deficiency: Heterogeneity of Mutations and Phenotypic Variability in a Large Number of Families ⬇️

scientific article published on February 1, 1998

Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes

scientific article

Attitudes towards Genetic Information Delivered by High-Throughput Sequencing among Molecular Geneticists, Genetic Counselors, Medical Advisors and Students in France

scientific article published on 16 September 2019

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

scientific article

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families

scientific article

Bardet-Biedl syndrome: a unique family for a major gene (BBS10)

scientific article

Biomedicine. Huntingtin--profit and loss.

scientific article

CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein.

scientific article published in June 2003

Cells lacking the fragile X mental retardation protein (FMRP) have normal RISC activity but exhibit altered stress granule assembly

scientific article

Cerberus, an Access Control Scheme for Enforcing Least Privilege in Patient Cohort Study Platforms : A Comprehensive Access Control Scheme Applied to the GENIDA Project - Study of Genetic Forms of Intellectual Disabilities and Autism Spectrum Disord

scientific article

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

scientific article

Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy ⬇️

scientific article published on September 1, 1997

Characterization of the Adrenoleukodystrophy-Related (ALDR, ABCD2) Gene Promoter: Inductibility by Retinoic Acid and Forskolin

article

Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human

scientific article

Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability

scientific article published on 01 March 2019

Clinical and genetic abnormalities in patients with Friedreich's ataxia

scientific article

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.

scientific article published on 5 April 2013

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

scientific article

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

scientific article

Comparative frequency of fragile-X (FMR1) and creatine transporter (SLC6A8) mutations in X-linked mental retardation.

scientific article published on October 2004

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

scholarly article published in Nature 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

scientific article published on 19 March 2020

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

scientific article published on 31 July 2020

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

scientific article published on 07 October 2010

Deletion of bothMTM1 andMTMR1 genes in a boy with myotubular myopathy

article

Diagnosis of X-linked myotubular myopathy by detection of myotubularin.

scientific article

Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates

scientific article published on 20 July 2007

Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing

article

Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader–Willi and Angelman syndromes

Disease progression despite early loss of polyglutamine protein expression in SCA7 mouse model.

scientific article published in February 2004

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

scientific article

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.

scientific article published on 24 October 2012

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

scientific article

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect

scientific article published on April 2006

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

scientific article

FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy

scientific article published in June 2005

FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts.

scientific article published on 9 February 2005

Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France

scientific article published in September 2004

Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons

scientific article published on 27 May 2016

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

scientific article

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

scientific article

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

scientific article

Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy

scientific article published on 15 October 2004

Functional redundancy in the myotubularin family

scientific article (publication date: 22 February 2002)

G-quadruplex RNA structure as a signal for neurite mRNA targeting

scientific article

Gene in the region of the Friedreich ataxia locus encodes a putative transmembrane protein expressed in the nervous system ⬇️

scientific article published on January 1, 1993

Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder

scientific article published on 9 January 2018

Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy

scientific article

Genomic organization of the adrenoleukodystrophy gene

scientific article (publication date: July 1994)

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

scientific article published on 30 July 2020

Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing

scientific article published on 16 September 2013

Hsp70 and Hsp40 chaperones do not modulate retinal phenotype in SCA7 mice.

scientific article

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

scientific article

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome

scientific article published on 14 January 2016

Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene

scientific article

Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy

scientific article (publication date: 1999)

Implication of phosphoinositide phosphatases in genetic diseases: the case of myotubularin ⬇️

scientific article published on October 1, 2003

Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage

scientific article

Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness

scientific article

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation ⬇️

scientific article published on November 1, 1992

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

scientific article published on 8 February 2017

Isolation and characterization of cDNA clones for human skeletal muscle α actin ⬇️

scientific article published on June 11, 1983

Jean B Dausset, 19 October 1916-6 June 2009

scientific article

La révolution génomique du diagnostic des maladies rares

scientific article published on 13 April 2012

Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways

scientific journal article

Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy

scientific article published in March 2002

Le point sur le syndrome de Bardet-Biedl

scientific article published on 01 January 2005

Linear and extended: a common polyglutamine conformation recognized by the three antibodies MW1, 1C2 and 3B5H10

scientific article

Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome.

scientific article published in November 2002

Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.

scientific article

MTM1 mutations in X-linked myotubular myopathy

scientific article (publication date: 2000)

Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)

scientific article

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

scientific article published on 29 October 2010

Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.

scientific article published in September 2004

Monogenic causes of X-linked mental retardation.

scientific article

Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells

scientific article

Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations

scientific article

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

scientific article

Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia

scientific article (publication date: May 2001)

Mutations de l’amphiphysine 2 (BIN1) dans les myopathies centronucléaires récessives

scientific article published on 01 December 2007

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

scientific article

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

scientific article published on 7 December 2016

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

scientific article (publication date: September 2007)

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

scientific article published on 9 November 2016

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center

scientific article

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome

scientific article

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle

scientific article

Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases

scientific article (publication date: 15 October 2003)

NUFIP1 (nuclear FMRP interacting protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomes

scientific article

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

scientific article

Novel de novo mutations inZBTB20in Primrose syndrome with congenital hypothyroidism

scientific article published on 07 April 2016

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

scientific article published on 29 July 2019

Pathogenic and Non-pathogenic Polyglutamine Tracts Have Similar Structural Properties: Towards a Length-dependent Toxicity Gradient

article

Pathological mechanisms in polyglutamine expansion diseases.

scientific article published in January 2001

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

scientific article

Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program

scientific article published on 24 January 2006

Polyglutamine-containing proteins in schizophrenia.

scientific article published on January 1999

Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells

scientific article

Progressive retinal degeneration and dysfunction in R6 Huntington's disease mice

scientific article published on December 2002

Properties of polyglutamine expansion in vitro and in a cellular model for Huntington's disease.

scientific article

Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions

scientific article published on August 2002

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

scientific article

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

scientific article published on 15 August 2019

SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell types

article

SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases.

scientific article published on February 2010

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism

scientific article

Sex-specific impact of prenatal androgens on social brain default mode subsystems

scientific article published on 13 August 2018

Spatial control of nucleoporin condensation by fragile X-related proteins

scientific article published on 24 July 2020

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein

scientific article

Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation

article

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

scholarly article

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

scientific article

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

scientific article

Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

article

The Fragile X mental retardation protein ⬇️

scientific article published on November 1, 2001

The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer

scientific journal article

The N-terminus of the fragile X mental retardation protein contains a novel domain involved in dimerization and RNA binding.

scientific article published in September 2003

The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles

scientific article

The evolutionary origin of peroxisomes: an ER-peroxisome connection.

scientific article

The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein

scientific article (publication date: February 1994)

The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice

scientific journal article

The myotubularin family: from genetic disease to phosphoinositide metabolism

scientific article (publication date: April 2001)

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

scientific article

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

scientific article

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

scientific article

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

scientific article

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.

scientific article published on 19 March 2009

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

scientific article published on 3 May 2016

Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy

scientific article published on 23 February 2010

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

scientific article published on 15 January 2010

Variation on a trinucleotide theme

WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity

scientific article

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

scientific article published on 12 October 2017

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing.

scientific article published in August 2013

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

scientific article

[Myotubular myopathy]

scientific article published on 01 November 2000

[The RARE 2017 meeting and the French Foundation of Rare Diseases]

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