(Q39213724)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24418350%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

title

EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24418350%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24418350%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

author name string

B P C van de Warrenburg

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24418350%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

J van Gaalen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24418350%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

S Boesch

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24418350%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

J-M Burgunder

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24418350%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

A Dürr

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24418350%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

T Klockgether

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24418350%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

C Mariotti

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24418350%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

M Pandolfo

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24418350%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

O Riess

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24418350%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

language of work or name

1 reference

13 January 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24418350%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Neurology

5 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24418350%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24418350%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24418350%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

page(s)

552-562

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24418350%20AND%20SRC:MED&resulttype=core&format=json

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

5 March 2020

cites work

1 reference

EFNS guidelines on the molecular diagnosis of mitochondrial disorders

21 January 2018

1 reference

Screening for tumours in paraneoplastic syndromes: report of an EFNS task force.

21 January 2018

1 reference

EMQN Best Practice Guidelines for molecular genetic testing of SCAs.

21 January 2018

1 reference

A practical approach to late-onset cerebellar ataxia: putting the disorder with lack of order into order

21 January 2018

1 reference

Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.

21 January 2018

1 reference

Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay

21 January 2018

1 reference

Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.

21 January 2018

1 reference

Spinocerebellar ataxia with mental retardation (SCA13).

21 January 2018

1 reference

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

21 January 2018

1 reference

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

21 January 2018

1 reference

Genetics of the dominant ataxias

21 January 2018

1 reference

Presymptomatic testing in Huntington's disease and autosomal dominant cerebellar ataxias

21 January 2018

1 reference

The autosomal recessive cerebellar ataxias

21 January 2018

1 reference

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.

21 January 2018

1 reference

Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines

21 January 2018

1 reference

Spectrum of neurological syndromes associated with glutamic acid decarboxylase antibodies: diagnostic clues for this association.

21 January 2018

1 reference

Sporadic cerebellar ataxia associated with gluten sensitivity

21 January 2018

1 reference

Prevalence of antigliadin antibodies in ataxia patients.

21 January 2018

1 reference

Gluten ataxia in perspective: epidemiology, genetic susceptibility and clinical characteristics

21 January 2018

1 reference

Gluten sensitivity in Japanese patients with adult-onset cerebellar ataxia.

21 January 2018

1 reference

Ataxia, peripheral neuropathy, and anti-gliadin antibody. Guilt by association?

21 January 2018

1 reference

Antigliadin antibodies in Cuban patients with spinocerebellar ataxia type 2.

21 January 2018

1 reference

Transglutaminase 6 antibodies in the diagnosis of gluten ataxia

21 January 2018

1 reference

Progressive myoclonic ataxia associated with coeliac disease. The myoclonus is of cortical origin, but the pathology is in the cerebellum

21 January 2018

1 reference

Downbeat nystagmus, ataxia and spastic tetraparesis due to coeliac disease.

21 January 2018

1 reference

Dietary treatment of gluten ataxia

21 January 2018

1 reference

Coeliac disease presenting with cerebellar degeneration

21 January 2018

1 reference

Intravenous immunoglobulin therapy for autoantibody-positive cerebellar ataxia.

21 January 2018

1 reference

Effect of intravenous immunoglobulin on cerebellar ataxia and neuropathic pain associated with celiac disease.

21 January 2018

1 reference

Second consensus statement on the diagnosis of multiple system atrophy

21 January 2018

1 reference

The aetiology of sporadic adult-onset ataxia

21 January 2018

1 reference

FXTAS: new insights and the need for revised diagnostic criteria.

21 January 2018

1 reference

Premutations in the FMR1 gene are uncommon in men undergoing genetic testing for spinocerebellar ataxia

21 January 2018

1 reference

FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.

21 January 2018

1 reference

Fragile X premutation with atypical symptoms at onset.

21 January 2018

1 reference

The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group

21 January 2018

1 reference

Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort.

21 January 2018

1 reference

Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia.

21 January 2018

1 reference

Multiple system atrophy: a clinical and neuropathological perspective

21 January 2018

1 reference

Multiple system atrophy: an update.

21 January 2018

1 reference

New insights into atypical parkinsonism.

21 January 2018

1 reference

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families

21 January 2018

1 reference

Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-up.

21 January 2018

1 reference

Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency

21 January 2018

1 reference

Combined treatment with LDL-apheresis, chenodeoxycholic acid and HMG-CoA reductase inhibitor for cerebrotendinous xanthomatosis

21 January 2018

1 reference

Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C.

21 January 2018

1 reference

Early miglustat therapy in infantile Niemann-Pick disease type C.

21 January 2018

1 reference

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

21 January 2018

1 reference

Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update

21 January 2018

1 reference

Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients

21 January 2018

1 reference

Abetalipoproteinemia: two case reports and literature review

21 January 2018

1 reference

The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease

21 January 2018

1 reference

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

21 January 2018

1 reference

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency

21 January 2018

1 reference

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

21 January 2018

1 reference

Effectiveness and safety of treatments for degenerative ataxias: a systematic review.

21 January 2018

1 reference

Riluzole in cerebellar ataxia: a randomized, double-blind, placebo-controlled pilot trial

21 January 2018

1 reference

Treatment of ataxia and imbalance with varenicline (chantix): report of 2 patients with spinocerebellar ataxia (types 3 and 14).

21 January 2018

1 reference

Subjective improvement in proprioception in 2 patients with atypical Friedreich ataxia treated with varenicline (Chantix).

21 January 2018

1 reference

Treatment of imbalance with varenicline Chantix(R): report of a patient with fragile X tremor/ataxia syndrome

21 January 2018

1 reference

A randomized trial of varenicline (Chantix) for the treatment of spinocerebellar ataxia type 3.

21 January 2018

1 reference

Amantadine hydrochloride treatment in heredodegenerative ataxias: a double blind study

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/ENE.12341

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24418350%20AND%20SRC:MED&resulttype=core&format=json

release_ttqzcavwrbbclnqczmfreqz2t4

5 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ttqzcavwrbbclnqczmfreqz2t4

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference