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Analysis of a pituitary tumour with histological features of central neurocytoma points towards the emergence of a new entity recognisable by a specific epigenetic signature

Neuropathology and applied neurobiology, 2024-02, Vol.50 (1), p.e12948-n/a

2024

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Differential expression of tissue-restricted antigens among mTEC is associated with distinct autoreactive T cell fates

Nature communications, 2020-07, Vol.11 (1), p.3734-15, Article 3734

2020

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Mutations in TGM6 induce the unfolded protein response in SCA35

Human molecular genetics, 2017-10, Vol.26 (19), p.3749-3762

2017

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Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

Cell reports (Cambridge), 2016-06, Vol.16 (1), p.79-91

2016

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Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation

Scientific reports, 2018-10, Vol.8 (1), p.14611-5, Article 14611

2018

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Autosomal dominant cerebellar ataxias: new genes and progress towards treatments

Lancet neurology, 2023-08, Vol.22 (8), p.735-749

2023

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Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function

Neurology. Genetics, 2018-02, Vol.4 (1), p.e209-e209

2018

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Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing

Journal of neurology, 2015-10, Vol.262 (10), p.2382-2395

2015

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A05 Early transcriptional modifications of the developing brain in huntington disease

Journal of neurology, neurosurgery and psychiatry, 2022-09, Vol.93 (Suppl 1), p.A2-A2

2022

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A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

American journal of human genetics, 2015-11, Vol.97 (5), p.726-737

2015

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Reply: Updated frequency analysis of spinocerebellar ataxia in China

Brain (London, England : 1878), 2018-04, Vol.141 (4), p.e23-e23

2018

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A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

Brain (London, England : 1878), 2017-06, Vol.140 (6), p.1579-1594

2017

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Combining callers improves the detection of copy number variants from whole-genome sequencing

European journal of human genetics : EJHG, 2022-02, Vol.30 (2), p.178-186

2022

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PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

Brain (London, England : 1878), 2014-01, Vol.137 (Pt 1), p.69-77

2014

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Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes

Journal of medical genetics, 2023-07, Vol.60 (7), p.717-721

2023

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NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia

Brain (London, England : 1878), 2022-05, Vol.145 (4), p.1519-1534

2022

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GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia

Neurology, 2015-04, Vol.84 (17), p.1751-1759

2015

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Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

Brain (London, England : 1878), 2016-01, Vol.139 (Pt 1), p.e4-e4

2016

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Abstract B14: Pinpointing the origins of pediatric brain tumors using single-cell transcriptomic analysis

Cancer research (Chicago, Ill.), 2020-07, Vol.80 (14_Supplement), p.B14-B14

2020

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Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1

Orphanet journal of rare diseases, 2014-11, Vol.9 (1), p.174-174, Article 174

2014

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Analysis of a pituitary tumour with histological features of central neurocytoma points towards the emergence of a new entity recognisable by a specific epigenetic signature

Differential expression of tissue-restricted antigens among mTEC is associated with distinct autoreactive T cell fates

Mutations in TGM6 induce the unfolded protein response in SCA35

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation

Autosomal dominant cerebellar ataxias: new genes and progress towards treatments

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function

Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing

A05 Early transcriptional modifications of the developing brain in huntington disease

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

Reply: Updated frequency analysis of spinocerebellar ataxia in China

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

Combining callers improves the detection of copy number variants from whole-genome sequencing

PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

K27M in canonical and noncanonical H3 variants occurs in distinct oligodendroglial cell lineages in brain midline gliomas

Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes

NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia

Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25

Genome sequencing in families with congenital limb malformations

Abstract B14: Pinpointing the origins of pediatric brain tumors using single-cell transcriptomic analysis

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1

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