(Q36142401)

12 August 2017

Charcot-Marie-Tooth disease type 1A duplication with severe paresis of the proximal lower limb muscles: a long-term follow-up study (English)

1 reference

Charcot-Marie-Tooth disease type 1A

12 August 2017

1 reference

1 reference

J Berciano

1

1 reference

12 August 2017

E Gallardo

2

1 reference

12 August 2017

A García

3

1 reference

12 August 2017

J Infante

4

1 reference

12 August 2017

I Mateo

5

1 reference

12 August 2017

O Combarros

6

1 reference

12 August 2017

language of work or name

English

0 references

publication date

20 June 2006

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

12 August 2017

1 reference

12 August 2017

77

1 reference

12 August 2017

10

1 reference

12 August 2017

1169-1176

1 reference

Muscle imaging in clinical practice: diagnostic value of muscle magnetic resonance imaging in inherited neuromuscular disorders

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077541

MR imaging in nonneoplastic muscle disorders of the lower extremity

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077541

Abnormal signal intensity in skeletal muscle at MR imaging: patterns, pearls, and pitfalls

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077541

Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077541

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077541

Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077541

AAEM minimonograph #11: Needle examination in clinical electromyography

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077541

Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077541

The phenotypic manifestations of chromosome 17p11.2 duplication

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077541

Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type 1)

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077541

Reliability and validity of the CMT neuropathy score as a measure of disability.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077541

Coexistent hereditary and inflammatory neuropathy

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077541

Diagnostic strategy for familial and sporadic cases of neuropathy associated with 17p11.2 deletion

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2077541

5 December 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

The electrodiagnostic distinctions between chronic familial and acquired demyelinative neuropathies

1 reference

12 December 2020

1 reference

12 December 2020

1 reference

12 December 2020

The application of nerve conduction and clinical studies to genetic counseling in hereditary motor and sensory neuropathy type I

1 reference

12 December 2020

Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1

1 reference

12 December 2020

Penetrance of the hereditary motor and sensory neuropathy Ia mutation: assessment by nerve conduction studies

1 reference

12 December 2020

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I)

1 reference

12 December 2020

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

1 reference

12 December 2020

Denervated human skeletal muscle: MR imaging evaluation

1 reference

12 December 2020

Pregnancy and delivery in Charcot-Marie-Tooth disease type 1

1 reference

12 December 2020

Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17

1 reference

12 December 2020

1 reference

12 December 2020

Charcot-Marie-Tooth disease

1 reference

12 December 2020

Patterns of muscle atrophy in the lower limbs in patients with Charcot-Marie-Tooth disease as measured by magnetic resonance imaging

1 reference

12 December 2020

Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study

1 reference

12 December 2020

Clinical disease severity and axonal dysfunction in hereditary motor and sensory neuropathy Ia

1 reference

12 December 2020

Charcot-Marie-Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles

1 reference

12 December 2020

Clinico-electrophysiological correlation of extensor digitorum brevis muscle atrophy in children with charcot-marie-tooth disease 1A duplication

1 reference

12 December 2020

1 reference

12 December 2020

MR imaging of primary skeletal muscle diseases in children

1 reference

12 December 2020

Motor unit number estimate of distal and proximal muscles in Charcot-Marie-Tooth disease

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.2006.093443

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

16788010

1 reference