The neuropathology of CAG repeat diseases: review and update of genetic and molecular features (Q41527060)

2 October 2017

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title

The neuropathology of CAG repeat diseases: review and update of genetic and molecular features (English)

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2 October 2017

4

Rouleau G

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2 October 2017

Robitaille Y

1

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2 October 2017

Lopes-Cendes I

series ordinal

2

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2 October 2017

Becher M

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3

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2 October 2017

Clark AW

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5

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2 October 2017

1 July 1997

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2 October 2017

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2 October 2017

7

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2 October 2017

901-926

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2 October 2017

3

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Preferential loss of striato-external pallidal projection neurons in presymptomatic Huntington's disease

2 October 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Striatal and nigral neuron subpopulations in rigid Huntington's disease: implications for the functional anatomy of chorea and rigidity-akinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

The functional anatomy of basal ganglia disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Loss of neurons in the nucleus basalis of Meynert in Alzheimer's disease, paralysis agitans and Korsakoff's Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

CAG expansion affects the expression of mutant Huntingtin in the Huntington's disease brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Identification and characterization of the gene causing type 1 spinocerebellar ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Huntington's disease, energy, and excitotoxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Olivopontocerebellar atrophy. A review of 117 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Neuronal types in the striatum of man

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

The nucleus basalis in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Subcellular localization of the Huntington's disease gene product in cell lines by immunofluorescence and biochemical subcellular fractionation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Somatic expansion of the (CAG)n repeat in Huntington disease brains

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Primate models of movement disorders of basal ganglia origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Mildly impaired water maze performance in male Fmr1 knockout mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Chromosomal localization of the human genes for alpha 1A, alpha 1B, and alpha 1E voltage-dependent Ca2+ channel subunits

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Neuropathology of Huntington's chorea: Studies of the ventrobasal complex of the thalamus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Clinical and genetic abnormalities in patients with Friedreich's ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Inactivation of the mouse Huntington's disease gene homolog Hdh

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Ataxia, chorea, seizures, and dementia. Pathologic features of a newly defined familial disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Translational suppression by trinucleotide repeat expansion at FMR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Sparing of acetylcholinesterase-containing striatal neurons in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

The diagnosis of Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Relationship between trinucleotide repeats and neuropathological changes in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Loss of cannabinoid receptors in the substantia nigra in Huntington's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Dentatorubropallidoluysian degeneration: clinical, neuro-ophthalmologic, biochemical, and pathologic studies on autosomal dominant form.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Evidence for degenerative and regenerative changes in neostriatal spiny neurons in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Luyso-pallido-nigral atrophy and amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Identification and localization of huntingtin in brain and human lymphoblastoid cell lines with anti-fusion protein antibodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Classification of the hereditary ataxias and paraplegias

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Neuronal loss in layers V and VI of cerebral cortex in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Nerve cell loss in the thalamic centromedian-parafascicular complex in patients with Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Trinucleotide repeats in the human genome: size distributions for all possible triplets and detection of expanded disease alleles in a group of Huntington disease individuals by the repeat expansion detection method

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Small increase in triplet repeat length of cerebellum from patients with myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Reduced Purkinje cell density in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Structural and functional brain imaging in Friedreich's ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Studies on neurotransmitter markers and striatal neuronal cell density in Huntington's disease and dentatorubropallidoluysian atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Epilepsy and fragile X gene mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

The nucleus pontis centralis caudalis in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Trinucleotide repeat expansion in neurological disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Morphometric studies of the neuropathological changes in choreatic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

A 17th-century founder gives rise to a large north American pedigree of autosomal dominant spinocerebellar ataxia not linked to the SCA1 locus on chromosome 6

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Brainstem findings in Huntington's disease. Possible mechanisms for slow vertical saccades

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

A huntingtin-associated protein enriched in brain with implications for pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Huntington's disease gene (IT15) is widely expressed in human and rat tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Limits of clinical assessment in the accurate diagnosis of Machado-Joseph disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Huntington's disease: translating a CAG repeat into a pathogenic mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Subcortical afferent projection systems in Huntington's chorea

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

DRPLA gene (atrophin-1) sequence and mRNA expression in human brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Adult-onset neuronal intranuclear hyaline inclusion disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Clinical and neuropathologic assessment of severity in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Hereditary ataxia with sensory neuronopathy: Biemond's ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Combined degeneration of globus pallidus and dentate nucleus and their projections.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Dominantly inherited olivopontocerebellar atrophy from eastern Cuba. Clinical, neuropathological, and biochemical findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

A quantitative investigation of the substantia nigra in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Accumulation of tubular structures in oligodendroglial and neuronal cells as the basic alteration in multiple system atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Autosomal dominant cerebellar ataxia type I: multimodal electrophysiological study and comparison between SCA1 and SCA2 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Molecular and clinical findings in a family with dentatorubral-pallidoluysian atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Differential loss of striatal projection neurons in Huntington disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Neurodevelopmental effects of the FMR-1 full mutation in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

The neuropathological features of neuroacanthocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

When more is less: pathogenesis of glutamine repeat neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Coexistence of Huntington's disease and familial amyotrophic lateral sclerosis: case presentation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Mitochondrial function in Huntington's disease: clues for pathogenesis and prospects for treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Predominant neuronal expression of the gene responsible for dentatorubral-pallidoluysian atrophy (DRPLA) in rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Hereditary motor neuron disease: the proximal, adult, sex-linked form (or Kennedy disease). Clinical and neuroendocrinologic observations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Widespread expression of Huntington's disease gene (IT15) protein product

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Normal CAG repeat length in the Huntington's disease gene in senile chorea

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

'Haw River Syndrome' or Dentato-Rubro-Pallido-Luysian Atrophy?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Specific sequences in the fragile X syndrome protein FMR1 and the FXR proteins mediate their binding to 60S ribosomal subunits and the interactions among them

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Unusual form of cerebellar ataxia; combined dentato-rubral and pallido-Luysian degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Morphometric analysis of the prefrontal cortex in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Evidence for neuronal degeneration and dendritic plasticity in cortical pyramidal neurons of Huntington's disease: a quantitative Golgi study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Neurochemical substrates of rigidity and chorea in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or Dentato-Rubro-Pallido-Luysian atrophy locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Basal nucleus of Meynert. A neuropathological study in Alzheimer's disease, simple senile dementia, Pick's disease and Huntington's chorea

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Assignment of the dentatorubral and pallidoluysian atrophy (DRPLA) gene to 12p 13.31 by fluorescence in situ hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

The gene for Machado-Joseph disease maps to human chromosome 14q

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Heredo-degenerative hemiballismus; a contribution to the question of primary atrophy of the corpus luysii.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Dentatorubral-pallidoluysian atrophy (DRPLA): clinical, genetic, and neuroradiologic studies in a family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Specific tau variants in the brains of patients with myotonic dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Autosomal-dominant dentatorubropallidoluysian atrophy in the United Kingdom

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

The expanding world of trinucleotide repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Homozygotes for Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinico-pathological entity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Locus coeruleus involvement in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

An expanded CAG repeat sequence in spinocerebellar ataxia type 7

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the friedreich's ataxia locus on chromosome 9q

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00893.X

10.1111/J.1750-3639.1997.TB00893.X

21 January 2018

Identifiers

DOI

1 reference

2 October 2017

1 reference