Brain pathology of spinocerebellar ataxias (Q34298978)

1 August 2017

title

Brain pathology of spinocerebellar ataxias (English)

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1 August 2017

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5

Horst-Werner Korf

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1 August 2017

Wilfred F A den Dunnen

4

object named as

Wilfred den Dunnen

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1 August 2017

Kay Seidel

1

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1 August 2017

Sonny Siswanto

2

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1 August 2017

Ewout R P Brunt

3

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1 August 2017

Udo Rüb

6

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1 August 2017

publication date

9 June 2012

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1 August 2017

published in

Acta Neuropathologica

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1 August 2017

volume

124

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1 August 2017

issue

1

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1 August 2017

page(s)

1-21

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Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats

1 August 2017

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IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.

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Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype

21 January 2018

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Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3.

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SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

21 January 2018

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

21 January 2018

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Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families

21 January 2018

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The clinical and genetic spectrum of spinocerebellar ataxia 14

21 January 2018

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Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1.

21 January 2018

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A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23.

21 January 2018

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Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias

21 January 2018

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RNA gain-of-function in spinocerebellar ataxia type 8.

21 January 2018

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Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

21 January 2018

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Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).

21 January 2018

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Spinocerebellar ataxia type 8: clinical features in a large family.

21 January 2018

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Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Pathophysiology of cerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Ataxin-3 plays a role in mouse myogenic differentiation through regulation of integrin subunit levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Nuclear inclusions in spinocerebellar ataxia type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

β-III spectrin is critical for development of purkinje cell dendritic tree and spine morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

21 January 2018

"SCA16" is really SCA15.

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-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/10.1007/S00401-012-1000-X

Involvement of the cranial nerves and their nuclei in spinocerebellar ataxia type 2 (SCA2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Spinocerebellar ataxia type 6 (SCA6): neurodegeneration goes beyond the known brain predilection sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-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/10.1007/S00401-012-1000-X

Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-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/10.1007/S00401-012-1000-X

Immunohistochemical study of neuronal intranuclear and cytoplasmic inclusions in Machado-Joseph disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23–q24.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Involvement of the auditory brainstem system in spinocerebellar ataxia type 2 (SCA2), type 3 (SCA3) and type 7 (SCA7).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

AN ATTEMPT TO CLASSIFY CEREBELLAR DISEASE, WITH A NOTE ON MARIE'S HEREDITARY CEREBELLAR ATAXIA

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Why is SCA12 different from other SCAs?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Spectrin mutations cause spinocerebellar ataxia type 5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-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/10.1007/S00401-012-1000-X

The carboxy-terminal fragment of alpha(1A) calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Clinical, neuropathological, and molecular study in two families with spinocerebellar ataxia type 6 (SCA6).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Hereditary episodic ataxias

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-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/10.1007/S00401-012-1000-X

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

The pathogenesis of spinocerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Neuronal intranuclear inclusions in spinocerebellar ataxia type 2: triple-labeling immunofluorescent study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Spinocerebellar ataxia 2 (SCA2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Spinocerebellar ataxia 7 (SCA7).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Direct and accurate measurement of CAG repeat configuration in the ataxin-1 (ATXN-1) gene by "dual-fluorescence labeled PCR-restriction fragment length analysis".

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Unstable spinocerebellar ataxia type 10 (ATTCT*(AGAAT) repeats are associated with aberrant replication at the ATX10 locus and replication origin-dependent expansion at an ectopic site in human cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Identification and localization of ataxin-7 in brain and retina of a patient with cerebellar ataxia type II using anti-peptide antibody.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Cerebellar control of balance and locomotion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Attenuated nuclear shrinkage in neurones with nuclear inclusions of SCA1 brains.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

SCA-12: Tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Spinocerebellar ataxia type 12

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

The ins and outs of a polyglutamine neurodegenerative disease: spinocerebellar ataxia type 1 (SCA1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Trinucleotide Repeat Disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Neuronal intranuclear inclusions in SCA2: a genetic, morphological and immunohistochemical study of two cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Ataxia and hereditary disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-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/10.1007/S00401-012-1000-X

Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

SCA3: neurological features, pathogenesis and animal models

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

SCA6 is caused by moderate CAG expansion in the alpha1A-voltage- dependent calcium channel gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

The Neuropathology of CAG Repeat Diseases: Review and Update of Genetic and Molecular Features

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

The nucleus raphe interpositus in spinocerebellar ataxia type 3 (Machado-Joseph disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Spinocerebellar ataxia type 7 (SCA7): first report of a systematic neuropathological study of the brain of a patient with a very short expanded CAG-repeat

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Degeneration of ingestion-related brainstem nuclei in spinocerebellar ataxia type 2, 3, 6 and 7.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Damage to the reticulotegmental nucleus of the pons in spinocerebellar ataxia type 1, 2, and 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Spinocerebellar ataxia type 3 (SCA3): thalamic neurodegeneration occurs independently from thalamic ataxin-3 immunopositive neuronal intranuclear inclusions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Spinocerebellar ataxia type 3 (Machado-Joseph disease): severe destruction of the lateral reticular nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Extended pathoanatomical studies point to a consistent affection of the thalamus in spinocerebellar ataxia type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Thalamic involvement in a spinocerebellar ataxia type 2 (SCA2) and a spinocerebellar ataxia type 3 (SCA3) patient, and its clinical relevance

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Spinocerebellar ataxias types 2 and 3: degeneration of the pre-cerebellar nuclei isolates the three phylogenetically defined regions of the cerebellum

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Consistent affection of the central somatosensory system in spinocerebellar ataxia type 2 and type 3 and its significance for clinical symptoms and rehabilitative therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Polarised asymmetric inheritance of accumulated protein damage in higher eukaryotes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-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/10.1007/S00401-012-1000-X

The hereditary spinocerebellar ataxias in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

SCA19 and SCA22: evidence for one locus with a worldwide distribution

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

An isoform of ataxin-3 accumulates in the nucleus of neuronal cells in affected brain regions of SCA3 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Axonal inclusions in spinocerebellar ataxia type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Mutant gammaPKC found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Spinocerebellar ataxias: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

A new dominantly inherited pure cerebellar ataxia, SCA 30.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

A new autosomal dominant pure cerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

A 76-year-old woman presenting with adult-onset, slowly progressive cerebellar symptoms

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Ataxin‐1 and Brother of ataxin‐1 are components of the Notch signalling pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Spinocerebellar ataxia type 2 (SCA2) is associated with TDP-43 pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-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/10.1007/S00401-012-1000-X

Cell-type-specific alternative splicing in spinocerebellar ataxia type 6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Attenuated nuclear shrinkage in neurons with nuclear aggregates--a morphometric study on pontine neurons of Machado-Joseph disease brains

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

TATA-binding protein in neurodegenerative disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

PKC gamma mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Ataxia and paroxysmal dyskinesia in mice lacking axonally transported FGF14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Polyglutamine neurodegeneration: protein misfolding revisited.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

The deubiquitinating enzyme ataxin-3, a polyglutamine disease protein, edits Lys63 linkages in mixed linkage ubiquitin chains.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

CAG repeat disorder models and human neuropathology: similarities and differences

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Transcription factor sequestration by polyglutamine proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Glutamine repeats and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-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/10.1007/S00401-012-1000-X

Behavioral Disorder, Dementia, Ataxia, and Rigidity in a Large Family With TATA Box-Binding Protein Mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Clinical features and genetic analysis of a new form of spinocerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Distribution of ataxin-7 in normal human brain and retina

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

An expanded CAG repeat sequence in spinocerebellar ataxia type 7

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00401-012-1000-X

10.1007/S00401-012-1000-X

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

1 August 2017

1043887259

0 references

1 reference