(Q36591150)

15 August 2017

Ataxia and other data reviewed in Charcot-Marie-Tooth and Refsum's disease (English)

1 reference

15 August 2017

1 reference

https://api.crossref.org/works/10.1136/JNNP.45.12.1085

23 August 2023

author name string

P. Salisachs

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6186770

23 August 2023

language of work or name

English

0 references

publication date

1 December 1982

1 reference

PMC publication ID

491688

full work available at URL

15 August 2017

https://europepmc.org/articles/PMC491688

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6186770

https://europepmc.org/articles/PMC491688?pdf=render

23 August 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6186770

https://syndication.highwire.org/content/doi/10.1136/jnnp.45.12.1085

23 August 2023

1 reference

Crossref

https://api.crossref.org/works/10.1136/JNNP.45.12.1085

Journal of Neurology, Neurosurgery and Psychiatry

23 August 2023

published in

1 reference

15 August 2017

45

1 reference

15 August 2017

12

1 reference

15 August 2017

1085-1091

1 reference

Use and misuse of the Roussy-Levy eponym

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491688

Should Charcot-Marie-Tooth disease be genetically subgrouped on motor conduction velocity

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491688

Motor nerve conduction velocity in peroneal muscular atrophy: evidence for genetic heterogeneity

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491688

Pathology of peroneal muscular atrophy (Charcot-Marie-Tooth disease).

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491688

Clinical and biochemical follow up of Refsum's disease (author's transl)

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491688

Heredopathia atactica polyneuritiformis (phytanic acid storage disease). A new case with special reference to dietary treatment

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491688

A case of Refsum's disease: clinical, pathological, ultrastructural and biochemical study.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491688

Acute Cerebellar Infarction in the PICA Territory

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491688

Charcot-Marie-Tooth disease associated with "essential tremor": Report of 7 cases and a review of the literature

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491688

The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and nerve biopsy studies. Part 2. Observations on pathological changes in sural nerve biopsies

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491688

Peroneal muscular atrophy (PMA) and related disorders. II. Histological findings in sural nerves

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491688

Peroneal muscular atrophy (PMA) and related disorders. I. Clinical manifestations as related to biopsy findings, nerve conduction and electromyography

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491688

Argyll-Robertson-Like Pupils in the Neural Type of Charcot-Marie-Tooth Disease

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491688

Charcot-Marie-Tooth Disease Associated with ‘Essential Tremor’ and Normal and/or Slightly Diminished Motor Conduction Velocity

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491688

Refsum's syndrome; heredopathia atactica polyneuritiformis; a report of three cases, including a study of the cardiac pathology.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491688

The Neurogenic Scapulo-Peroneal Syndrome

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=491688

The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification

20 September 2018

1 reference

12 December 2020

The clinical features of hereditary motor and sensory neuropathy types I and II

1 reference

12 December 2020

Distal and scapuloperoneal distributions of muscle involvement occurring within a family with type I hereditary motor and sensory neuropathy

1 reference

12 December 2020

Unusual presentation of Charcot-Marie-Tooth disease — Incoordination with absent or minimal wasting

1 reference

12 December 2020

Evidence for linkage of type I hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1

1 reference

12 December 2020

A case of Charcot-Marie-Tooth disease mimicking Friedreich's ataxia: is there any association between friedreich's ataxia and Charcot-Marie-Tooth disease?

1 reference

12 December 2020

Heredopathia atactica polyneuritiformis

1 reference

12 December 2020

Neuropathological changes in hereditary neuropathies: manifestation of the syndrome heredopathia atactica polyneuritiformis in the presence of interstitial hypertrophic polyneuropathy

1 reference

12 December 2020

[Study of hereditary areflexic dystasia; present condition of four of the first seven cases of Roussy and Mlle. Lévy thirty years after the first publication of these authors]

1 reference

12 December 2020

Relations of nerve conduction velocity to histologic findings in peripheral nerves. Based on 49 biopsies of the sural nerve

1 reference

12 December 2020

[Refsum's syndrome. Study of lipids in serum and urine]

1 reference

12 December 2020

Volitional hyperkinesia. Electrological study. Classification

1 reference

12 December 2020

Onion bulbs in a nerve biopsy specimen from an original case of Roussy-Lévy disease

1 reference

12 December 2020

[Anatomical documents concerning a case of Refsum's disease]

1 reference

12 December 2020

Study of isolated nerve fibers in primary hypertrophic neuritis

1 reference

12 December 2020

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

series ordinal

42

1 reference

Crossref

https://api.crossref.org/works/10.1136/JNNP.45.12.1085

Clinical and electrodiagnostic features of Charcot-Marie-Tooth syndrome

23 August 2023

series ordinal

43

1 reference

Crossref

https://api.crossref.org/works/10.1136/JNNP.45.12.1085

23 August 2023

Identifiers

1 reference

15 August 2017

1 reference

PMC publication ID

491688

15 August 2017

1 reference

PMC publication ID

491688