Literature DB >> 7931393

DNA analysis in Finnish patients with hereditary neuropathy with liability to pressure palsies (HNPP).

K Silander1, P Halonen, R Sara, H Kalimo, B Falck, M L Savontaus.   

Abstract

Hereditary neuropathy with liability to pressure palsies (HNPP) is a dominantly inherited disorder that presents as recurrent mononeuropathies precipitated by apparently trivial traumas. The presence of a deletion in 17p11.2 was analysed in 13 Finnish families with HNPP. The deletion was found in all patients who were neurologically and neurophysiologically confirmed to have HNPP. In the problematic cases the detection of the gene defect is the method of choice in the diagnosis of HNPP. Analysis of DNA can also be used to detect clinically unaffected family members.

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Year:  1994        PMID： 7931393      PMCID： PMC485500          DOI： 10.1136/jnnp.57.10.1260

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


  10 in total

1.  Familial recurrent polyneuropathy. A family and a survey.

Authors:  D Roos; P Thygesen
Journal:  Brain       Date:  1972       Impact factor: 13.501

2.  Hereditary neuropathy with liability to pressure palsies. Electrophysiological and histopathological aspects.

Authors:  F Behse; F Buchthal; F Carlsen; G G Knappeis
Journal:  Brain       Date:  1972       Impact factor: 13.501

3.  Hereditary compression syndrome of peripheral nerves.

Authors:  A Staal; C J de Weerdt; L N Went
Journal:  Neurology       Date:  1965-11       Impact factor: 9.910

4.  Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.

Authors:  P Raeymaekers; V Timmerman; E Nelis; W Van Hul; P De Jonghe; J J Martin; C Van Broeckhoven
Journal:  J Med Genet       Date:  1992-01       Impact factor: 6.318

5.  Conduction block in hereditary neuropathy with susceptibility to pressure palsies.

Authors:  M S Sellman; R F Mayer
Journal:  Muscle Nerve       Date:  1987-09       Impact factor: 3.217

6.  Hereditary neuropathy with liability to pressure palsies: a clinical, electroneurophysiological and morphological study.

Authors:  W I Verhagen; A A Gabreëls-Festen; P J van Wensen; E M Joosten; H M Vingerhoets; F J Gabreëls; R de Graaf
Journal:  J Neurol Sci       Date:  1993-06       Impact factor: 3.181

7.  Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1.

Authors:  E C Mariman; A A Gabreëls-Festen; S E van Beersum; P J Jongen; H H Ropers; F J Gabreëls
Journal:  Hum Genet       Date:  1993-08       Impact factor: 4.132

8.  Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.

Authors:  N Matsunami; B Smith; L Ballard; M W Lensch; M Robertson; H Albertsen; C O Hanemann; H W Müller; T D Bird; R White
Journal:  Nat Genet       Date:  1992-06       Impact factor: 38.330

9.  Quantitative measurement of duplicated DNA as a diagnostic test for Charcot-Marie-Tooth disease type 1a.

Authors:  G W Hensels; E A Janssen; J E Hoogendijk; L J Valentijn; F Baas; P A Bolhuis
Journal:  Clin Chem       Date:  1993-09       Impact factor: 8.327

10.  DNA deletion associated with hereditary neuropathy with liability to pressure palsies.

Authors:  P F Chance; M K Alderson; K A Leppig; M W Lensch; N Matsunami; B Smith; P D Swanson; S J Odelberg; C M Disteche; T D Bird
Journal:  Cell       Date:  1993-01-15       Impact factor: 41.582
  10 in total
  2 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.  Recovery of brachial plexus lesions resulting from heavy backpack use: a follow-up case series.

Authors:  Tuula Nylund; Ville M Mattila; Tapani Salmi; Harri K Pihlajamäki; Jyrki P Mäkelä
Journal:  BMC Musculoskelet Disord       Date:  2011-03-24       Impact factor: 2.362
  2 in total

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