Literature DB >> 8937360

Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A.

F Chapon, P Diraison, B Lechevalier, G Chazot, F Viader, C Bonnebouche, A Vandenberghe, V Timmerman, C Van Broeckhoven, A Vandenberghe.   

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Year:  1996        PMID： 8937360      PMCID： PMC1074063          DOI： 10.1136/jnnp.61.5.535

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  5 in total

1.  Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).

Authors:  V Timmerman; A Löfgren; E Le Guern; P Liang; P De Jonghe; J J Martin; D Verhalle; W Robberecht; R Gouider; A Brice; C Van Broeckhoven
Journal:  Hum Genet       Date:  1996-01       Impact factor: 4.132

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

Authors:  G A Nicholson; L J Valentijn; A K Cherryson; M L Kennerson; T L Bragg; R M DeKroon; D A Ross; J D Pollard; J G McLeod; P A Bolhuis
Journal:  Nat Genet       Date:  1994-03       Impact factor: 38.330

3.  Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome.

Authors:  F P Thomas; R V Lebo; G Rosoklija; X S Ding; R E Lovelace; N Latov; A P Hays
Journal:  Acta Neuropathol       Date:  1994       Impact factor: 17.088

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

Authors:  E C Mariman; A A Gabreëls-Festen; S E van Beersum; P J Jongen; E van de Looij; F Baas; P A Bolhuis; H H Ropers; F J Gabreëls
Journal:  Hum Genet       Date:  1994-02       Impact factor: 4.132

5.  Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.

Authors:  P F Chance; N Abbas; M W Lensch; L Pentao; B B Roa; P I Patel; J R Lupski
Journal:  Hum Mol Genet       Date:  1994-02       Impact factor: 6.150
  5 in total
  4 in total

Review 1.  Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy.

Authors:  Phillip F Chance
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

2.  The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.

Authors:  K Inoue; K Dewar; N Katsanis; L T Reiter; E S Lander; K L Devon; D W Wyman; J R Lupski; B Birren
Journal:  Genome Res       Date:  2001-06       Impact factor: 9.043

3.  Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.

Authors:  Marian A J Weterman; Fred van Ruissen; Marit de Wissel; Lou Bordewijk; Johnny P A Samijn; W Ludo van der Pol; Farid Meggouh; Frank Baas
Journal:  Eur J Hum Genet       Date:  2009-11-04       Impact factor: 4.246

Review 4.  New evidence for secondary axonal degeneration in demyelinating neuropathies.

Authors:  Kathryn R Moss; Taylor S Bopp; Anna E Johnson; Ahmet Höke
Journal:  Neurosci Lett       Date:  2020-12-24       Impact factor: 3.046
  4 in total

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