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Absence of Behavioral Abnormalities and Neurodegeneration in vivo despite Widespread Neuronal Huntingtin Inclusions

Proceedings of the National Academy of Sciences - PNAS, 2005-08, Vol.102 (32), p.11402-11407

2005

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CAG-encoded polyglutamine length polymorphism in the human genome

BMC genomics, 2007-05, Vol.8 (1), p.126-126, Article 126

2007

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Evolutionary constraints on the Disrupted in Schizophrenia locus

Genomics (San Diego, Calif.), 2003, Vol.81 (1), p.67-77

2003

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IRAK-4 Mutation (Q293X): Rapid Detection and Characterization of Defective Post-Transcriptional TLR/IL-1R Responses in Human Myeloid and Non-Myeloid Cells

Journal of Immunology, 2006-12, Vol.177 (11), p.8202-8211

2006

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Huntingtin Decreases Susceptibility to a Spontaneous Seizure Disorder in FVN/B Mice

Aging and disease, 2023-12, Vol.14 (6), p.2249-2266

2023

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Disruption of two novel genes by a translocation co-segregating with schizophrenia

Human molecular genetics, 2000-05, Vol.9 (9), p.1415-1423

2000

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Satellog: a database for the identification and prioritization of satellite repeats in disease association studies

BMC bioinformatics, 2005-06, Vol.6 (1), p.145-145, Article 145

2005

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A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

Nature genetics, 2001-10, Vol.29 (2), p.166-173

2001

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Cross-species characterization of the ALS2 gene and analysis of its pattern of expression in development and adulthood

Neurobiology of disease, 2005-03, Vol.18 (2), p.243-257

2005

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Familial frontotemporal dementia with neuronal intranuclear inclusions is not a polyglutamine expansion disease

BMC neurology, 2006-08, Vol.6 (1), p.32-32, Article 32

2006

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Disruption of the endocytic protein HIP1 results in neurological deficits and decreased AMPA receptor trafficking

The EMBO journal, 2003-07, Vol.22 (13), p.3254-3266

2003

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An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred

Annals of neurology, 2003-01, Vol.53 (1), p.144-145

2003

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Primary Immunodeficiency to pneumococcal infection due to a defect in Toll-like receptor signaling

The Journal of pediatrics, 2004-04, Vol.144 (4), p.512-518

2004

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An interrupted beta-propeller and protein disorder: structural bioinformatics insights into the N-terminus of alsin

Journal of molecular modeling, 2009-02, Vol.15 (2), p.113-122

2009

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Chapter 15 Juvenile amyotrophic lateral sclerosis

Handbook of Clinical Neurology, 2007, Vol.82, p.301-312

2007

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Isolation and characterization of the mouse translin-associated protein X (Trax) gene

Mammalian genome, 2000-05, Vol.11 (5), p.395-398

2000

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Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis

Archives of neurology (Chicago), 2003-12, Vol.60 (12), p.1768

2003

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Splinkerettes—improved vectorettes for greater efficiency in PCR walking

Nucleic acids research, 1995-05, Vol.23 (9), p.1644-1645

1995

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Identification of polymorphisms within Disrupted in Schizophrenia 1 and Disrupted in Schizophrenia 2, and an investigation of their association with schizophrenia and bipolar affective disorder

Psychiatric genetics, 2001-06, Vol.11 (2), p.71-78

2001

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Mutations in components of the dynein motor protein complex cause motor neuron disease

Clinical genetics, 2003-11, Vol.64 (5), p.377-378

Devon, RS

2003

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Two more genes involved in recental retardation in an ever x-panding repertoire of proteins and pathways

Clinical genetics, 2002-07, Vol.62 (1), p.24-25

Devon, RS

2002

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IRAK-4 mutation (Q293X): rapid detection, and characterisation of defective post-transcriptional TLR/IL-1R responses in human myeloid and non-myeloid cells1

The Journal of immunology (1950), 2006-12, Vol.177 (11), p.8202-8211

2006

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Clinical genetics, 2001-08, Vol.60 (2), p.102-103

2001

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Clinical genetics, 2001-08, Vol.60 (2), p.99-100

2001

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Clinical genetics, 2001-08, Vol.60 (2), p.99-100

2001

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Absence of Behavioral Abnormalities and Neurodegeneration in vivo despite Widespread Neuronal Huntingtin Inclusions

CAG-encoded polyglutamine length polymorphism in the human genome

Evolutionary constraints on the Disrupted in Schizophrenia locus

IRAK-4 Mutation (Q293X): Rapid Detection and Characterization of Defective Post-Transcriptional TLR/IL-1R Responses in Human Myeloid and Non-Myeloid Cells

Huntingtin Decreases Susceptibility to a Spontaneous Seizure Disorder in FVN/B Mice

Disruption of two novel genes by a translocation co-segregating with schizophrenia

Satellog: a database for the identification and prioritization of satellite repeats in disease association studies

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

Cross-species characterization of the ALS2 gene and analysis of its pattern of expression in development and adulthood

Familial frontotemporal dementia with neuronal intranuclear inclusions is not a polyglutamine expansion disease

Disruption of the endocytic protein HIP1 results in neurological deficits and decreased AMPA receptor trafficking

An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred

Primary Immunodeficiency to pneumococcal infection due to a defect in Toll-like receptor signaling

An interrupted beta-propeller and protein disorder: structural bioinformatics insights into the N-terminus of alsin

Chapter 15 Juvenile amyotrophic lateral sclerosis

Isolation and characterization of the mouse translin-associated protein X (Trax) gene

Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis

Splinkerettes—improved vectorettes for greater efficiency in PCR walking

Identification of polymorphisms within Disrupted in Schizophrenia 1 and Disrupted in Schizophrenia 2, and an investigation of their association with schizophrenia and bipolar affective disorder

Mutations in components of the dynein motor protein complex cause motor neuron disease

Two more genes involved in recental retardation in an ever x-panding repertoire of proteins and pathways

IRAK-4 mutation (Q293X): rapid detection, and characterisation of defective post-transcriptional TLR/IL-1R responses in human myeloid and non-myeloid cells1

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