(Q36736797)

16 August 2017

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title

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias (English)

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16 August 2017

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Brent L Fogel

1

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16 August 2017

Susan Perlman

series ordinal

2

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16 August 2017

publication date

1 March 2007

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16 August 2017

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16 August 2017

volume

6

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16 August 2017

issue

3

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16 August 2017

page(s)

245-257

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Classification of the hereditary ataxias and paraplegias

16 August 2017

cites work

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7 January 2021

Symptomatic and disease-modifying therapy for the progressive ataxias

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7 January 2021

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

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7 January 2021

The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias

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7 January 2021

Recent advances in hereditary spinocerebellar ataxias

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7 January 2021

Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia

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7 January 2021

Molecular pathogenesis of Friedreich ataxia

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7 January 2021

Molecular basis of Friedreich ataxia

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7 January 2021

Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations

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7 January 2021

Friedreich's ataxia. Revision of the phenotype according to molecular genetics

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7 January 2021

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7 January 2021

Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features

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7 January 2021

Friedreich ataxia: an overview

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7 January 2021

Friedreich ataxia-update on pathogenesis and possible therapies

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7 January 2021

Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy

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7 January 2021

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

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7 January 2021

The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure

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7 January 2021

The GAA*TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner

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7 January 2021

Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency

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7 January 2021

Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia.

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7 January 2021

GAA expansion size and age at onset of Friedreich's ataxia

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7 January 2021

Recent advances in the molecular pathogenesis of Friedreich ataxia

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7 January 2021

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

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7 January 2021

Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Frataxin and frataxin deficiency in Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Friedreich's ataxia: treatment within reach

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Idebenone treatment in Friedreich's ataxia: neurological, cardiac, and biochemical monitoring

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Localization of alpha-tocopherol transfer protein in the brains of patients with ataxia with vitamin E deficiency and other oxidative stress related neurodegenerative disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Delayed-onset ataxia in mice lacking alpha -tocopherol transfer protein: model for neuronal degeneration caused by chronic oxidative stress

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

The role of the microsomal triglygeride transfer protein in abetalipoproteinemia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Liver-specific inactivation of the abetalipoproteinemia gene completely abrogates very low density lipoprotein/low density lipoprotein production in a viable conditional knockout mouse

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

1 reference

7 January 2021

Phytanic acid storage disease (Refsum's disease): clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Identification of PEX7 as the second gene involved in Refsum disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Pathogenesis of primary defects in mitochondrial ATP synthesis.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

The congenital disorders of glycosylation: a multifaceted group of syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Glycosphingolipid lysosomal storage diseases: therapy and pathogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Late onset Tay-Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous system

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

An inducible mouse model of late onset Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Substrate reduction therapy of glycosphingolipid storage disorders.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Effective gene therapy in an authentic model of Tay-Sachs-related diseases

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Cerebrotendinous Xanthomatosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Consequences of mutations in human DNA polymerase gamma.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

TDP1-dependent DNA single-strand break repair and neurodegeneration

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Molecular basis of ataxia telangiectasia and related diseases

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Molecular pathology of ataxia telangiectasia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

ATM and ataxia telangiectasia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Ataxia-telangiectasia, an evolving phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

The ATM-mediated DNA-damage response: taking shape.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Dual role of Nbs1 in the ataxia telangiectasia mutated-dependent DNA damage response.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

An essential function for NBS1 in the prevention of ataxia and cerebellar defects

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Atm-deficient mice: a paradigm of ataxia telangiectasia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Aprataxin gene mutations in Tunisian families

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

The novel human gene aprataxin is directly involved in DNA single-strand-break repair.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Multiple protein/protein and protein/RNA interactions suggest roles for yeast DNA/RNA helicase Sen1p in transcription, transcription-coupled DNA repair and RNA processing

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Autosomal recessive spastic ataxia of Charlevoix–Saguenay

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

A novel mutation in SACS gene in a family from southern Italy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Identification of a SACS gene missense mutation in ARSACS.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Brain-specific BNIP-2-homology protein Caytaxin relocalises glutaminase to neurite terminals and reduces glutamate levels

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Marinesco-Sjögren syndrome in a male with mild dysmorphism.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2807%2970054-6

7 January 2021

10.1016/S1474-4422(07)70054-6

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DOI

1 reference

16 August 2017

1 reference