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Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work

Journal of neurology, 2017-06, Vol.264 (6), p.1118-1126

2017

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Transcriptional alterations and chromatin remodeling in polyglutamine diseases

Trends in genetics, 2006-10, Vol.22 (10), p.562-570

2006

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Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

Journal of medical genetics, 2006-01, Vol.43 (1), p.54-61

2006

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Impact de l’installation en Flexion diagonale soutenue sur le maternage tactile spontané lors de la première séance de peau-à-peau en réanimation néonatale

Neuropsychiatrie de l'enfance et de l'adolescence, 2017-09, Vol.65 (5), p.289-298

2017

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Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome

Science (American Association for the Advancement of Science), 1991-05, Vol.252 (5009), p.1097-1102

1991

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Hereditary Systemic Angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy

Journal of neurology, 2008, Vol.255 (1), p.77-88

2008

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Alternative Splicing of Exon 14 Determines Nuclear or Cytoplasmic Localisation of FMR1 Protein Isoforms

Human molecular genetics, 1996-01, Vol.5 (1), p.95-102

1996

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Huntingtin Acts in the Nucleus to Induce Apoptosis but Death Does Not Correlate with the Formation of Intranuclear Inclusions

Cell, 1998-10, Vol.95 (1), p.55-66

1998

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Rapid antibody test for fragile X syndrome

The Lancet (British edition), 1995-05, Vol.345 (8958), p.1147-1148

1995

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Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction

PLoS biology, 2006-03, Vol.4 (3), p.e67-e67

2006

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Proteases Acting on Mutant Huntingtin Generate Cleaved Products that Differentially Build Up Cytoplasmic and Nuclear Inclusions

Molecular cell, 2002-08, Vol.10 (2), p.259-269

2002

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Le syndrome du retard mental avec X fragile

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 1996, Vol.3, p.S349-S350

1996

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

Human molecular genetics, 2004-06, Vol.13 (12), p.1257-1265

2004

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

Journal of medical genetics, 1992-11, Vol.29 (11), p.794-801

1992

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A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture

Human molecular genetics, 1995-05, Vol.4 (5), p.783-789

1995

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Isolation of Sequences That Span the Fragile X and Identification of a Fragile X-Related CpG Island

Science (American Association for the Advancement of Science), 1991-03, Vol.251 (4998), p.1236-1239

1991

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Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

Nature (London), 1995-11, Vol.378 (6555), p.403-406

1995

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

Nature genetics, 1996-11, Vol.14 (3), p.285-291

1996

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Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program

Human molecular genetics, 2006-03, Vol.15 (5), p.691-703

2006

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The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

Nature genetics, 1993-08, Vol.4 (4), p.335-340

1993

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Polyglutamine Expansion Induces a Protein-damaging Stress Connecting Heat Shock Protein 70 to the JNK Pathway

The Journal of biological chemistry, 2003-05, Vol.278 (19), p.16957-16967

2003

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Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form

Nature genetics, 1995-05, Vol.10 (1), p.104-110

1995

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Hsp70 and Hsp40 Chaperones Do Not Modulate Retinal Phenotype in SCA7 Mice

The Journal of biological chemistry, 2004-12, Vol.279 (53), p.55969-55977

2004

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

Human molecular genetics, 2002-12, Vol.11 (26), p.3351-3359

2002

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Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work

Transcriptional alterations and chromatin remodeling in polyglutamine diseases

Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

Impact de l’installation en Flexion diagonale soutenue sur le maternage tactile spontané lors de la première séance de peau-à-peau en réanimation néonatale

Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome

Hereditary Systemic Angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy

Alternative Splicing of Exon 14 Determines Nuclear or Cytoplasmic Localisation of FMR1 Protein Isoforms

Huntingtin Acts in the Nucleus to Induce Apoptosis but Death Does Not Correlate with the Formation of Intranuclear Inclusions

Rapid antibody test for fragile X syndrome

Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction

Proteases Acting on Mutant Huntingtin Generate Cleaved Products that Differentially Build Up Cytoplasmic and Nuclear Inclusions

Le syndrome du retard mental avec X fragile

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

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

A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture

Isolation of Sequences That Span the Fragile X and Identification of a Fragile X-Related CpG Island

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

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

Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program

The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

Polyglutamine Expansion Induces a Protein-damaging Stress Connecting Heat Shock Protein 70 to the JNK Pathway

Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form

Hsp70 and Hsp40 Chaperones Do Not Modulate Retinal Phenotype in SCA7 Mice

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

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