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Glutamine repeats and neurodegeneration

Annual review of neuroscience, 2000-01, Vol.23 (1), p.217-247

2000

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Requirement of Math1 for Secretory Cell Lineage Commitment in the Mouse Intestine

Science (American Association for the Advancement of Science), 2001-12, Vol.294 (5549), p.2155-2158

2001

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Rett syndrome is caused by mutations in X-linked MECP2 , encoding methyl-CpG-binding protein 2

Nature genetics, 1999-10, Vol.23 (2), p.185-188

1999

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Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome

Neurology, 2008-04, Vol.70 (16), p.1313-1321

2008

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Fourteen and counting: unraveling trinucleotide repeat diseases

Human molecular genetics, 2000-04, Vol.9 (6), p.909-916

2000

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Math1: An Essential Gene for the Generation of Inner Ear Hair Cells

Science (American Association for the Advancement of Science), 1999-06, Vol.284 (5421), p.1837-1841

1999

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TRINUCLEOTIDE REPEATS: Mechanisms and Pathophysiology

Annual review of genomics and human genetics, 2000-01, Vol.1 (1), p.281-328

2000

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Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1

Nature genetics, 1998-06, Vol.19 (2), p.148-154

1998

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Proprioceptor Pathway Development Is Dependent on MATH1

Neuron (Cambridge, Mass.), 2001-05, Vol.30 (2), p.411-422

2001

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The clinical and genetic spectrum of spinocerebellar ataxia 14

Neurology, 2005-04, Vol.64 (7), p.1258-1260

2005

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Genetic regulation of cerebellar development

Nature reviews. Neuroscience, 2001-07, Vol.2 (7), p.484-491

2001

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Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures

Nature (London), 1997-10, Vol.389 (6654), p.971-974

1997

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Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots

American journal of human genetics, 1999-12, Vol.65 (6), p.1520-1529

1999

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Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities

Cold Spring Harbor perspectives in biology, 2012-03, Vol.4 (3), p.a009886-a009886

2012

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Functional conservation of atonal and Math1 in the CNS and PNS

Development (Cambridge), 2000-03, Vol.127 (5), p.1039-1048

2000

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Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype

Neurology, 1998-10, Vol.51 (4), p.1081-1086

1998

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Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice

Human molecular genetics, 2001-07, Vol.10 (14), p.1511-1518

2001

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Identification of genes that modify ataxin-1-induced neurodegeneration

Nature (London), 2000-11, Vol.408 (6808), p.101-106

2000

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Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1

Nature neuroscience, 2000-02, Vol.3 (2), p.157-163

2000

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Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

Annals of neurology, 2000-05, Vol.47 (5), p.670-679

2000

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The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1

Nature (London), 1997-10, Vol.389 (6654), p.974-978

1997

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Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice

Neuron (Cambridge, Mass.), 1999-12, Vol.24 (4), p.879-892

1999

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Identification and characterization of the gene causing type 1 spinocerebellar ataxia

Nature genetics, 1994-08, Vol.7 (4), p.513-520

1994

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MeCP2 dysfunction in humans and mice

Journal of child neurology, 2005-09, Vol.20 (9), p.736-740

Zoghbi, Huda Y

2005

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Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals

Nature genetics, 1995-05, Vol.10 (1), p.94-98

1995

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Glutamine repeats and neurodegeneration

Requirement of Math1 for Secretory Cell Lineage Commitment in the Mouse Intestine

Rett syndrome is caused by mutations in X-linked MECP2 , encoding methyl-CpG-binding protein 2

Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome

Fourteen and counting: unraveling trinucleotide repeat diseases

Math1: An Essential Gene for the Generation of Inner Ear Hair Cells

TRINUCLEOTIDE REPEATS: Mechanisms and Pathophysiology

Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1

Proprioceptor Pathway Development Is Dependent on MATH1

The clinical and genetic spectrum of spinocerebellar ataxia 14

Genetic regulation of cerebellar development

Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures

Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots

Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities

Functional conservation of atonal and Math1 in the CNS and PNS

Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype

Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice

Identification of genes that modify ataxin-1-induced neurodegeneration

Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1

Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice

Identification and characterization of the gene causing type 1 spinocerebellar ataxia

MeCP2 dysfunction in humans and mice

Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals

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