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PDCD10 gene mutations in multiple cerebral cavernous malformations

PloS one, 2014-10, Vol.9 (10), p.e110438-e110438

2014

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Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients

PloS one, 2013-01, Vol.8 (1), p.e54404

2013

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Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia

Epilepsia (Copenhagen), 2016-06, Vol.57 (6), p.994-1003

2016

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Ring finger protein 213 assembles into a sensor for ISGylated proteins with antimicrobial activity

Nature communications, 2021-10, Vol.12 (1), p.5772-5772, Article 5772

2021

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The Phenotype of the C9ORF72 Expansion Carriers According to Revised Criteria for bvFTD

PloS one, 2015-07, Vol.10 (7), p.e0131817-e0131817

2015

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Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients

PloS one, 2016-09, Vol.11 (9), p.e0162592-e0162592

2016

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Expanding the TDP-43 Proteinopathy Pathway From Neurons to Muscle: Physiological and Pathophysiological Functions

Frontiers in neuroscience, 2022-02, Vol.16, p.815765

2022

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Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes

Human molecular genetics, 2013-04, Vol.22 (8), p.1539-1557

2013

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The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals

PloS one, 2015-06, Vol.10 (6), p.e0129662-e0129662

2015

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Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study

PloS one, 2013-06, Vol.8 (6), p.e65758

2013

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Phospholipid modifier PLAAT3 links defective PPARγ-dependent signaling to lipodystrophy

Nature genetics, 2023-11, Vol.55 (11), p.1790-1791

2023

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Regulation of amyloid precursor protein processing by serotonin signaling

PloS one, 2014-01, Vol.9 (1), p.e87014-e87014

2014

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Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: genetic and clinical homogeneity

PloS one, 2014-06, Vol.9 (6), p.e98520-e98520

2014

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Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis

PloS one, 2014-08, Vol.9 (8), p.e105439-e105439

2014

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Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis

Neurobiology of disease, 2021-08, Vol.156, p.105421, Article 105421

2021

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Proteome Profiling of RNF213 Depleted Cells Reveals Nitric Oxide Regulator DDAH1 Antilisterial Activity

Frontiers in cellular and infection microbiology, 2021-11, Vol.11, p.735416-735416

2021

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The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics

PloS one, 2017-06, Vol.12 (6), p.e0178093-e0178093

2017

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De novo mutations in ataxin-2 gene and ALS risk

PloS one, 2013-08, Vol.8 (8), p.e70560-e70560

2013

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Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)

Orphanet journal of rare diseases, 2022-05, Vol.17 (1), p.210-210, Article 210

2022

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Prevalence of dural ectasia in Loeys-Dietz syndrome: comparison with Marfan syndrome and normal controls

PloS one, 2013-09, Vol.8 (9), p.e75264-e75264

2013

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The Alzheimer susceptibility gene BIN1 induces isoform-dependent neurotoxicity through early endosome defects

Acta neuropathologica communications, 2022-01, Vol.10 (1), p.4-4, Article 4

2022

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Effects of NR1H3 genetic variation on the expression of liver X receptor α and the progression of Alzheimer's disease

PloS one, 2013-11, Vol.8 (11), p.e80700-e80700

2013

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Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree

PloS one, 2013-03, Vol.8 (3), p.e57977-e57977

2013

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HDAC6 Is a Bruchpilot Deacetylase that Facilitates Neurotransmitter Release

Cell reports (Cambridge), 2014-07, Vol.8 (1), p.94-102

2014

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Identification of two missense mutations of ERCC6 in three Chinese sisters with Cockayne syndrome by whole exome sequencing

PloS one, 2014-12, Vol.9 (12), p.e113914-e113914

2014

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PDCD10 gene mutations in multiple cerebral cavernous malformations

Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients

Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia

Ring finger protein 213 assembles into a sensor for ISGylated proteins with antimicrobial activity

The Phenotype of the C9ORF72 Expansion Carriers According to Revised Criteria for bvFTD

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients

Expanding the TDP-43 Proteinopathy Pathway From Neurons to Muscle: Physiological and Pathophysiological Functions

Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes

The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals

Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study

Phospholipid modifier PLAAT3 links defective PPARγ-dependent signaling to lipodystrophy

Regulation of amyloid precursor protein processing by serotonin signaling

Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: genetic and clinical homogeneity

Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis

Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis

Proteome Profiling of RNF213 Depleted Cells Reveals Nitric Oxide Regulator DDAH1 Antilisterial Activity

The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics

De novo mutations in ataxin-2 gene and ALS risk

Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)

Prevalence of dural ectasia in Loeys-Dietz syndrome: comparison with Marfan syndrome and normal controls

The Alzheimer susceptibility gene BIN1 induces isoform-dependent neurotoxicity through early endosome defects

Effects of NR1H3 genetic variation on the expression of liver X receptor α and the progression of Alzheimer's disease

Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree

HDAC6 Is a Bruchpilot Deacetylase that Facilitates Neurotransmitter Release

Identification of two missense mutations of ERCC6 in three Chinese sisters with Cockayne syndrome by whole exome sequencing

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