(Q53871691)

English

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients.

scientific article published in May 1995

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scholarly article

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Europe PubMed Central

PubMed publication ID

21 May 2018

http://europepmc.org/abstract/MED/7643137

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients. (English)

1 reference

Europe PubMed Central

PubMed publication ID

21 May 2018

http://europepmc.org/abstract/MED/7643137

hereditary neuropathy with liability to pressure palsies

0 references

Gianluigi Mancardi

6

1 reference

Europe PubMed Central

PubMed publication ID

21 May 2018

http://europepmc.org/abstract/MED/7643137

author name string

P Mandich

1

1 reference

Europe PubMed Central

PubMed publication ID

21 May 2018

http://europepmc.org/abstract/MED/7643137

R James

2

1 reference

Europe PubMed Central

PubMed publication ID

21 May 2018

http://europepmc.org/abstract/MED/7643137

S Nassani

3

1 reference

Europe PubMed Central

PubMed publication ID

21 May 2018

http://europepmc.org/abstract/MED/7643137

R Defferrari

4

1 reference

Europe PubMed Central

PubMed publication ID

21 May 2018

http://europepmc.org/abstract/MED/7643137

E Bellone

5

1 reference

Europe PubMed Central

PubMed publication ID

21 May 2018

http://europepmc.org/abstract/MED/7643137

A Schenone

7

1 reference

Europe PubMed Central

PubMed publication ID

21 May 2018

http://europepmc.org/abstract/MED/7643137

M Abbruzzese

8

1 reference

Europe PubMed Central

PubMed publication ID

21 May 2018

http://europepmc.org/abstract/MED/7643137

M Rocchi

9

1 reference

Europe PubMed Central

PubMed publication ID

21 May 2018

http://europepmc.org/abstract/MED/7643137

F Ajmar

10

1 reference

Europe PubMed Central

PubMed publication ID

21 May 2018

http://europepmc.org/abstract/MED/7643137

publication date

1 May 1995

1 reference

Europe PubMed Central

PubMed publication ID

21 May 2018

http://europepmc.org/abstract/MED/7643137

Journal of Neurology

1 reference

Europe PubMed Central

PubMed publication ID

21 May 2018

http://europepmc.org/abstract/MED/7643137

242

1 reference

Europe PubMed Central

PubMed publication ID

21 May 2018

http://europepmc.org/abstract/MED/7643137

5

1 reference

Europe PubMed Central

PubMed publication ID

21 May 2018

http://europepmc.org/abstract/MED/7643137

295-298

1 reference

Europe PubMed Central

PubMed publication ID

21 May 2018

http://europepmc.org/abstract/MED/7643137

Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia).

1 reference

https://pubmed.ncbi.nlm.nih.gov/7643137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary motor and sensory neuropathy with calf hypertrophy is associated with 17p 11.2 duplication

1 reference

https://pubmed.ncbi.nlm.nih.gov/7643137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication

1 reference

https://pubmed.ncbi.nlm.nih.gov/7643137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

1 reference

https://pubmed.ncbi.nlm.nih.gov/7643137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7643137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7643137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HEREDITARY NEUROPATHY, WITH LIABILITY TO PRESSURE PALSIES; A CLINICAL AND ELECTROPHYSIOLOGICAL STUDY OF FOUR FAMILIES

1 reference

https://pubmed.ncbi.nlm.nih.gov/7643137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/7643137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families

1 reference

https://pubmed.ncbi.nlm.nih.gov/7643137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A yeast artificial chromosome contig spanning the Charcot-Marie-Tooth disease type 1A duplication region

1 reference

https://pubmed.ncbi.nlm.nih.gov/7643137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

De-novo mutation in hereditary motor and sensory neuropathy type I.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7643137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intensive evaluation of referred unclassified neuropathies yields improved diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7643137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7643137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies

1 reference

https://pubmed.ncbi.nlm.nih.gov/7643137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1 reference

https://pubmed.ncbi.nlm.nih.gov/7643137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP

1 reference

https://pubmed.ncbi.nlm.nih.gov/7643137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

1 reference

https://pubmed.ncbi.nlm.nih.gov/7643137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP)

1 reference

https://pubmed.ncbi.nlm.nih.gov/7643137

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00878871

1 reference

Europe PubMed Central

PubMed publication ID

21 May 2018

http://europepmc.org/abstract/MED/7643137

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

21 May 2018

http://europepmc.org/abstract/MED/7643137

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