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Loss of junctophilin-3 contributes to huntington disease-like 2 pathogenesis

Annals of neurology, 2012-02, Vol.71 (2), p.245-257

2012

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High Frequency Retrotransposition in Cultured Mammalian Cells

Cell, 1996-11, Vol.87 (5), p.917-927

1996

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Missense mutations in the AFG3L2 proteolytic domain account for ~1.5% of European autosomal dominant cerebellar ataxias

Human mutation, 2010-10, Vol.31 (10), p.1117-1124

2010

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Neuropathology and Cellular Pathogenesis of Spinocerebellar Ataxia Type 12

Movement disorders, 2015-11, Vol.30 (13), p.1813-1824

2015

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Huntington's disease-like 2 is associated with CUG repeat-containing RNA foci

Annals of neurology, 2007-03, Vol.61 (3), p.272-282

2007

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Detection of Large Pathogenic Expansions in FRDA1, SCA10, and SCA12 Genes Using a Simple Fluorescent Repeat-Primed PCR Assay

The Journal of molecular diagnostics : JMD, 2004-05, Vol.6 (2), p.96-100

2004

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Missense mutations in the AFG3L2 proteolytic domain account for similar to 1.5% of European autosomal dominant cerebellar ataxias

Human mutation, 2010-10, Vol.31 (10), p.1117-1124

2010

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Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populations

Psychiatric genetics, 2009-04, Vol.19 (2), p.64-71

2009

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A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion

Nature genetics, 1994-06, Vol.7 (2), p.143-148

1994

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Spinocerebellar ataxia type 12

Handbook of Clinical Neurology, 2012, Vol.103, p.535-547

2012

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A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2

Nature genetics, 2001-12, Vol.29 (4), p.377-378

2001

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Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12

Nature genetics, 1999-12, Vol.23 (4), p.391-392

1999

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A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion

Annals of neurology, 2001-09, Vol.50 (3), p.373-380

2001

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Context-dependent pattern and process: the distribution and competitive dynamics of an invasive grass, Brachypodium sylvaticum

Biological invasions, 2010-07, Vol.12 (7), p.2303-2318

2010

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Huntington's disease-like 2 (HDL2) in North America and Japan

Annals of neurology, 2004-11, Vol.56 (5), p.670-674

2004

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SCA12: An unusual mutation leads to an unusual spinocerebellar ataxia

Brain research bulletin, 2001-10, Vol.56 (3-4), p.397-403

2001

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SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family

Annals of neurology, 2001-01, Vol.49 (1), p.117-121

2001

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Trinucleotide repeat expansions in the junctophilin-3 gene are not found in caucasian patients with a huntington's disease-like phenotype

Annals of neurology, 2002-05, Vol.51 (5), p.662-662

2002

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Clinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutation

Movement disorders, 2004-06, Vol.19 (6), p.641-648

2004

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Neuropathology and C ellular P athogenesis of S pinocerebellar A taxia T ype 12

Movement disorders, 2015-11, Vol.30 (13), p.1813-1824

2015

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Huntington's disease-like 2: a clinical, pathological, and molecular comparison to Huntington's disease

Clinical neuroscience research, 2003-09, Vol.3 (3), p.187-196

2003

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Studies on p40, the leucine zipper motif-containing protein encoded by the first open reading frame of an active human LINE-1 transposable element

The Journal of biological chemistry, 1992-10, Vol.267 (28), p.19765-19768

1992

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The Urban Heat Island of San Antonio, Texas, from 1991 to 2010

Journal of Geography, Environment and Earth Science International, 2018-09, Vol.17 (2), p.1-13

2018

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UNIDIMENSIONALITY AND VERTICAL EQUATING WITH THE RASCH MODEL

Journal of educational measurement, 1982-06, Vol.19 (2), p.139-147

HOLMES, SUSAN E.

1982

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Disruption of the Clathrin Heavy Chain-Like Gene (CLTCL) Associated with Features of DGS/VCFS: A Balanced (21;22)(p12;q11) Translocation

Human molecular genetics, 1997-03, Vol.6 (3), p.357-367

1997

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Loss of junctophilin-3 contributes to huntington disease-like 2 pathogenesis

High Frequency Retrotransposition in Cultured Mammalian Cells

Missense mutations in the AFG3L2 proteolytic domain account for ~1.5% of European autosomal dominant cerebellar ataxias

Neuropathology and Cellular Pathogenesis of Spinocerebellar Ataxia Type 12

Huntington's disease-like 2 is associated with CUG repeat-containing RNA foci

Detection of Large Pathogenic Expansions in FRDA1, SCA10, and SCA12 Genes Using a Simple Fluorescent Repeat-Primed PCR Assay

Missense mutations in the AFG3L2 proteolytic domain account for similar to 1.5% of European autosomal dominant cerebellar ataxias

Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populations

A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion

Spinocerebellar ataxia type 12

A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2

Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12

A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion

Context-dependent pattern and process: the distribution and competitive dynamics of an invasive grass, Brachypodium sylvaticum

Huntington's disease-like 2 (HDL2) in North America and Japan

SCA12: An unusual mutation leads to an unusual spinocerebellar ataxia

SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family

Trinucleotide repeat expansions in the junctophilin-3 gene are not found in caucasian patients with a huntington's disease-like phenotype

Clinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutation

Neuropathology and C ellular P athogenesis of S pinocerebellar A taxia T ype 12

Huntington's disease-like 2: a clinical, pathological, and molecular comparison to Huntington's disease

Studies on p40, the leucine zipper motif-containing protein encoded by the first open reading frame of an active human LINE-1 transposable element

The Urban Heat Island of San Antonio, Texas, from 1991 to 2010

UNIDIMENSIONALITY AND VERTICAL EQUATING WITH THE RASCH MODEL

Disruption of the Clathrin Heavy Chain-Like Gene (CLTCL) Associated with Features of DGS/VCFS: A Balanced (21;22)(p12;q11) Translocation

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