Literature DB >> 7530550

Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype.

B Rautenstrauss1, E Nelis, H Grehl, R A Pfeiffer, C Van Broeckhoven.   

Abstract

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Year:  1994        PMID： 7530550     DOI： 10.1093/hmg/3.9.1701

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  7 in total

1.  A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease.

Authors:  R Navon; B Seifried; N S Gal-On; M Sadeh
Journal:  Hum Genet       Date:  1996-05       Impact factor: 4.132

2.  Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.

Authors:  Mehrdad Khajavi; Ken Inoue; Wojciech Wiszniewski; Tomoko Ohyama; G Jackson Snipes; James R Lupski
Journal:  Am J Hum Genet       Date:  2005-09-30       Impact factor: 11.025

3.  Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.

Authors:  F L Mastaglia; K J Nowak; R Stell; B A Phillips; J E Edmondston; S M Dorosz; S D Wilton; J Hallmayer; B A Kakulas; N G Laing
Journal:  J Neurol Neurosurg Psychiatry       Date:  1999-08       Impact factor: 10.154

4.  Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies.

Authors:  S Sander; R A Ouvrier; J G McLeod; G A Nicholson; J D Pollard
Journal:  J Neurol Neurosurg Psychiatry       Date:  2000-04       Impact factor: 10.154

5.  Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation.

Authors:  M Donaghy; S M Sisodiya; R Kennett; B McDonald; N Haites; C Bell
Journal:  J Neurol Neurosurg Psychiatry       Date:  2000-12       Impact factor: 10.154

6.  Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.

Authors:  Alejandro Leal; Corinna Berghoff; Martin Berghoff; Gerardo Del Valle; Carlos Contreras; Olga Montoya; Erick Hernández; Ramiro Barrantes; Ursula Schlötzer-Schrehardt; Bernhard Neundörfer; André Reis; Bernd Rautenstrauss; Dieter Heuss
Journal:  Neurogenetics       Date:  2003-07-05       Impact factor: 2.660

7.  Tracing myelin protein zero (P0) in vivo by construction of P0-GFP fusion proteins.

Authors:  Arif B Ekici; Sevinc Oezbey; Christina Fuchs; Eva Nelis; Christine Van Broeckhoven; Melitta Schachner; Bernd Rautenstrauss
Journal:  BMC Cell Biol       Date:  2002-11-26       Impact factor: 4.241
  7 in total

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