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Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiation

PloS one, 2013-08, Vol.8 (8), p.e73169-e73169

2013

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Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

Neurobiology of aging, 2014-07, Vol.35 (7), p.1779.e5-1779.e13

2014

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The dystrophin–glycoprotein complex in brain development and disease

Trends in neurosciences (Regular ed.), 2012-08, Vol.35 (8), p.487-496

2012

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The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability

Schizophrenia bulletin, 2018-08, Vol.44 (5), p.1100-1110

2018

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C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits

Annals of neurology, 2015-09, Vol.78 (3), p.426-438

2015

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Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

Acta neuropathologica, 2013-09, Vol.126 (3), p.401-409

2013

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The generation of an induced pluripotent stem cell line (DCGi001-A) from an individual with FOXG1 syndrome carrying the c.460dupG (p.Glu154fs) variation in the FOXG1 gene

Stem cell research, 2020-12, Vol.49, p.102018-102018, Article 102018

2020

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Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome

Neurobiology of disease, 2017-02, Vol.98, p.52-65

2017

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SGCE mutations cause psychiatric disorders: clinical and genetic characterization

Brain (London, England : 1878), 2013, Vol.136 (Pt 1), p.294-303

2013

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Myoclonus dystonia and muscular dystrophy: ɛ-sarcoglycan is part of the dystrophin-associated protein complex in brain

Movement disorders, 2016-11, Vol.31 (11), p.1694-1703

2016

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Ryanodine receptors are part of the myospryn complex in cardiac muscle

Scientific reports, 2017-07, Vol.7 (1), p.6312-12, Article 6312

2017

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SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype

Journal of neurology, 2014-12, Vol.261 (12), p.2296-2304

2014

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Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies

Frontiers in molecular biosciences, 2023, Vol.10, p.1279700

2023

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Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: A systematic review

Movement disorders, 2011-08, Vol.26 (10), p.1939-1942

2011

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C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism

Movement disorders, 2012-07, Vol.27 (8), p.1072-1074

2012

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Recent Advances in the Genetics of the ALS-FTLD Complex

Current neurology and neuroscience reports, 2012-06, Vol.12 (3), p.243-250

2012

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A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders

Cold Spring Harbor molecular case studies, 2019-06, Vol.5 (3), p.a003913

2019

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Huntingtin Exists as Multiple Splice Forms in Human Brain

Journal of Huntington's disease, 2015-07, Vol.4 (2), p.161-171

2015

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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Neuron (Cambridge, Mass.), 2011-10, Vol.72 (2), p.257-268

2011

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The neurobiology of the dystrophin-associated glycoprotein complex

Annals of medicine (Helsinki), 2009, Vol.41 (5), p.344-359

2009

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The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

American journal of human genetics, 2024-06, Vol.111 (6), p.1140-1164

2024

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Myoclonus dystonia and muscular dystrophy: -sarcoglycan is part of the dystrophin-associated protein complex in brain

Movement disorders, 2016-11, Vol.31 (11), p.1694-1703

2016

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Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome

Human mutation, 2012-12, Vol.33 (12), p.1676-1686

2012

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The chromosome 9 ALS and FTD locus is probably derived from a single founder

Neurobiology of aging, 2012, Vol.33 (1), p.209.e3-209.e8

2012

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Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p

Journal of neurology, 2011-04, Vol.258 (4), p.647-655

2011

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Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiation

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

The dystrophin–glycoprotein complex in brain development and disease

The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability

C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

The generation of an induced pluripotent stem cell line (DCGi001-A) from an individual with FOXG1 syndrome carrying the c.460dupG (p.Glu154fs) variation in the FOXG1 gene

Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome

SGCE mutations cause psychiatric disorders: clinical and genetic characterization

Myoclonus dystonia and muscular dystrophy: ɛ-sarcoglycan is part of the dystrophin-associated protein complex in brain

Ryanodine receptors are part of the myospryn complex in cardiac muscle

SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype

Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies

Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: A systematic review

C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism

Recent Advances in the Genetics of the ALS-FTLD Complex

A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders

Huntingtin Exists as Multiple Splice Forms in Human Brain

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

The neurobiology of the dystrophin-associated glycoprotein complex

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

Myoclonus dystonia and muscular dystrophy: -sarcoglycan is part of the dystrophin-associated protein complex in brain

Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome

The chromosome 9 ALS and FTD locus is probably derived from a single founder

Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p

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