(Q34974299)

5 August 2017

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title

Diagnosis and treatment of Friedreich ataxia: a European perspective (English)

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5 August 2017

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8

Ludger Schöls

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5 August 2017

1

Jörg B Schulz

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5 August 2017

6

Caterina Mariotti

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5 August 2017

Sylvia Boesch

2

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5 August 2017

Katrin Bürk

3

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5 August 2017

Alexandra Dürr

4

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5 August 2017

Paola Giunti

5

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5 August 2017

Francoise Pousset

7

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5 August 2017

Pierre Vankan

9

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5 August 2017

Massimo Pandolfo

10

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5 August 2017

language of work or name

English

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publication date

1 April 2009

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5 August 2017

published in

Nature Reviews Neurology

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5 August 2017

volume

5

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5 August 2017

issue

4

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5 August 2017

page(s)

222-234

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Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion

5 August 2017

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

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Meta-analysis: high-dosage vitamin E supplementation may increase all-cause mortality

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Presentation and progression of Friedreich ataxia and implications for physical therapist examination

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

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

31 March 2020

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Differential stability of the (GAA) n tract in the Friedreich ataxia (STM7) gene

31 March 2020

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Dissecting the epidemiology of a trinucleotide repeat disease - example of FRDA in Finland

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Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study.

31 March 2020

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Mutation analysis and association studies of the UCHL1 gene in German Parkinson's disease patients

31 March 2020

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Hereditary ataxias: epidemiological aspects

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Friedreich's ataxia in Western Norway

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Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia

31 March 2020

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Age of the intronic GAA triplet repeat expansion mutation in Friedreich ataxia

31 March 2020

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The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective

31 March 2020

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The western and eastern roots of the Saami--the story of genetic "outliers" told by mitochondrial DNA and Y chromosomes

31 March 2020

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The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.

31 March 2020

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

31 March 2020

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Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia

31 March 2020

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Neuro-otological abnormalities in Friedreich's ataxia

31 March 2020

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Speech perception ability in individuals with Friedreich ataxia.

31 March 2020

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International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

How is disease progress in Friedreich's ataxia best measured? A study of four rating scales.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Scale for the assessment and rating of ataxia: development of a new clinical scale

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Measuring Friedreich ataxia: complementary features of examination and performance measures

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Clinical and genetic abnormalities in patients with Friedreich's ataxia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Clinical and genetic correlate in childhood onset Friedreich ataxia

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Why do some Friedreich's ataxia patients retain tendon reflexes?

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich's ataxia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

The clinical spectrum of Friedreich's ataxia in German families showing linkage to the FRDA locus on chromosome 9

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Influence of GAA expansion size and disease duration on central nervous system impairment in Friedreich's ataxia: contribution to the understanding of the pathophysiology of the disease.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Central motor conduction in degenerative ataxic disorders: a magnetic stimulation study

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Auditory neuropathy in Friedreich ataxia A report of two cases

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Friedreich's ataxia: MR findings involving the cervical portion of the spinal cord

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Brain structural damage in Friedreich's ataxia.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

The varying evolution of Friedreich's ataxia cardiomyopathy

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Cardiomyopathy in Friedreich's ataxia-assessment by cardiac MRI

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Heart disease in Friedreich's ataxia: observation of a case for half a century

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Pathomechanics and management of scoliosis in Friedreich ataxia patients: preliminary report

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Incidence, natural history, and treatment of scoliosis in Friedreich's ataxia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Friedreich ataxia: a paradigm for mitochondrial diseases

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Idebenone in patients with Friedreich ataxia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Friedreich's ataxia: idebenone treatment in early stage patients

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Heart hypertrophy and function are improved by idebenone in Friedreich's ataxia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Safety, Tolerability, and Pharmacokinetics of High-Dose Idebenone in Patients With Friedreich Ataxia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

L-carnitine and creatine in Friedreich's ataxia. A randomized, placebo-controlled crossover trial

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Double-Blind, Crossover, Placebo-Controlled Clinical Trial with L-Acetylcarnitine in Patients with Degenerative Cerebellar Ataxia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Selective iron chelation in Friedreich ataxia: biologic and clinical implications

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Redistribution of accumulated cell iron: a modality of chelation with therapeutic implications

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Friedreich's ataxia: clinical pilot trial with recombinant human erythropoietin

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Surgery for equinovarus deformity in Friedreich's ataxia improves mobility and independence.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Rehabilitation management of Friedreich ataxia: lower extremity force-control variability and gait performance.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Intrathecal baclofen in the treatment of painful, disabling spasms in Friedreich's ataxia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Botulinum toxin type A for the treatment of the spastic equinus foot in cerebral palsy

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Can use of walkers or canes impede lateral compensatory stepping movements?

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

The effect of rate control on the intelligibility and naturalness of dysarthric speech

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Effects of intensive voice treatment (the Lee Silverman Voice Treatment [LSVT]) on ataxic dysarthria: a case study

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Intensive voice treatment (LSVT) for patients with Parkinson's disease: a 2 year follow up.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Extended communication samples of augmented communicators. I: A comparison of individualized versus standard single-word vocabularies

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

The Science and Practice of LSVT/LOUD: Neural Plasticity-Principled Approach to Treating Individuals with Parkinson Disease and Other Neurological Disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Towards an understanding of cognitive function in Friedreich ataxia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Neuropsychologic and neuropsychiatric characteristics of patients with Friedreich's ataxia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Double-blind crossover study with levorotatory form of hydroxytryptophan in patients with degenerative cerebellar diseases

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Quality of life in Friedreich ataxia: what clinical, social and demographic factors are important?

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Disability and quality of life in hereditary ataxias: a self-administered postal questionnaire

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Rocuronium for muscle relaxation in two children with Friedreich's ataxia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Propofol infusion syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Toxicity of intravenous anaesthetics

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

Molecular analysis of Friedreich's ataxia locus in the Indian population

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2009.26

[A neurophysiological study of the alterations to the central and peripheral nervous systems in Friedreich's ataxia]

31 March 2020

1 reference

12 December 2020

Endurance exercise training in Friedreich ataxia

1 reference

12 December 2020

Motor evoked potentials by magnetic stimulation in hereditary and sporadic ataxia

1 reference

12 December 2020

Visual loss and recovery in a patient with Friedreich ataxia.

1 reference

12 December 2020

Natural history of muscle weakness in Friedreich's Ataxia and its relation to loss of ambulation

1 reference

12 December 2020

Pregnancy associated with Friedreich ataxia

1 reference

12 December 2020

Anaesthesia for Friedreich's ataxia. Case report.

1 reference

12 December 2020

[Neurological findings, neurophysiological examinations, and sural nerve biopsy in a case of Friedreich ataxia].

1 reference

12 December 2020

Friedreich's ataxia: a clinical review of 20 childhood cases

1 reference

12 December 2020

Natural history of scoliosis in Friedreich's ataxia

1 reference

12 December 2020

Orthopedic shoes improve gait in Friedreich's ataxia: a clinical and quantified case study

1 reference

12 December 2020

Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study

1 reference

12 December 2020

Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRNEUROL.2009.26

1 reference

Dimensions Publication ID

5 August 2017

1009745635

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1 reference