159 related articles for article (PubMed ID: 7728152)
1. Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.
Valentijn LJ; Ouvrier RA; van den Bosch NH; Bolhuis PA; Baas F; Nicholson GA
Hum Mutat; 1995; 5(1):76-80. PubMed ID: 7728152
[TBL] [Abstract][Full Text] [Related]
2. De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
Hayasaka K; Himoro M; Sawaishi Y; Nanao K; Takahashi T; Takada G; Nicholson GA; Ouvrier RA; Tachi N
Nat Genet; 1993 Nov; 5(3):266-8. PubMed ID: 7506095
[TBL] [Abstract][Full Text] [Related]
3. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
Roa BB; Dyck PJ; Marks HG; Chance PF; Lupski JR
Nat Genet; 1993 Nov; 5(3):269-73. PubMed ID: 8275092
[TBL] [Abstract][Full Text] [Related]
4. Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.
Warner LE; Shohat M; Shorer Z; Lupski JR
Hum Mutat; 1997; 10(1):21-4. PubMed ID: 9222756
[TBL] [Abstract][Full Text] [Related]
5. Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72.
Marques W; Thomas PK; Sweeney MG; Carr L; Wood NW
Ann Neurol; 1998 May; 43(5):680-3. PubMed ID: 9585367
[TBL] [Abstract][Full Text] [Related]
6. Dejerine-Sottas' neuropathy caused by the missense mutation PMP22 Ser72Leu.
Marques W; Neto JM; Barreira AA
Acta Neurol Scand; 2004 Sep; 110(3):196-9. PubMed ID: 15285778
[TBL] [Abstract][Full Text] [Related]
7. Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.
Bort S; Sevilla T; García-Planells J; Blesa D; Paricio N; Vílchez JJ; Prieto F; Palau F
Hum Mutat; 1998; Suppl 1():S95-8. PubMed ID: 9452053
[No Abstract] [Full Text] [Related]
8. Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy.
Brožková D; Mazanec R; Rychlý Z; Haberlová J; Böhm J; Staněk J; Plevová P; Lisoňová J; Sabová J; Sakmaryová I; Seeman P
Muscle Nerve; 2011 Nov; 44(5):819-22. PubMed ID: 22006697
[TBL] [Abstract][Full Text] [Related]
9. Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene.
Jen J; Baloh RH; Ishiyama A; Baloh RW
J Neurol Sci; 2005 Oct; 237(1-2):21-4. PubMed ID: 15992829
[TBL] [Abstract][Full Text] [Related]
10. Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype.
Rautenstrauss B; Nelis E; Grehl H; Pfeiffer RA; Van Broeckhoven C
Hum Mol Genet; 1994 Sep; 3(9):1701-2. PubMed ID: 7530550
[No Abstract] [Full Text] [Related]
11. A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies.
Moszyńska I; Kabzińska D; Sinkiewicz-Darol E; Kochański A
Acta Biochim Pol; 2009; 56(4):627-30. PubMed ID: 19830275
[TBL] [Abstract][Full Text] [Related]
12. [Mutation of the myelin Po gene in hereditary motor and sensory neuropathy].
Hayasaka K
Rinsho Shinkeigaku; 1995 Dec; 35(12):1444-6. PubMed ID: 8752425
[TBL] [Abstract][Full Text] [Related]
13. Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene.
Ionasescu VV; Ionasescu R; Searby C; Neahring R
Neurology; 1995 Sep; 45(9):1766-7. PubMed ID: 7675244
[TBL] [Abstract][Full Text] [Related]
14. Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy.
Ceuterick-de Groote C; De Jonghe P; Timmerman V; Van Goethem G; Löfgren A; Ceulemans B; Van Broeckhoven C; Martin JJ
Pathol Res Pract; 2001; 197(3):193-8. PubMed ID: 11314784
[TBL] [Abstract][Full Text] [Related]
15. A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine-Sottas syndrome patients.
Silander K; Meretoja P; Nelis E; Timmerman V; Van Broeckhoven C; Aula P; Savontaus ML
Hum Mutat; 1996; 8(4):304-10. PubMed ID: 8956034
[TBL] [Abstract][Full Text] [Related]
16. A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
Ikegami T; Nicholson G; Ikeda H; Ishida A; Johnston H; Wise G; Ouvrier R; Hayasaka K
Biochem Biophys Res Commun; 1996 May; 222(1):107-10. PubMed ID: 8630052
[TBL] [Abstract][Full Text] [Related]
17. A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies.
Zéphir H; Stojkovic T; Latour P; Hurtevent JF; Blankaert F; Vermersch P
Neuromuscul Disord; 2005 Jul; 15(7):493-7. PubMed ID: 15955700
[TBL] [Abstract][Full Text] [Related]
18. Application of multiplex ligation-dependent probe analysis to define a small deletion encompassing PMP22 exons 4 and 5 in hereditary neuropathy with liability to pressure palsies.
Sutton IJ; Mocroft AP; Lindley VH; Barber RM; Bryon RJ; Winer JB; MacDonald F
Neuromuscul Disord; 2004 Dec; 14(12):804-9. PubMed ID: 15564036
[TBL] [Abstract][Full Text] [Related]
19. Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease.
Ikegami T; Ikeda H; Aoyama M; Matsuki T; Imota T; Fukuuchi Y; Amano T; Toyoshima I; Ishihara Y; Endoh H; Hayasaka K
Hum Genet; 1998 Mar; 102(3):294-8. PubMed ID: 9544841
[TBL] [Abstract][Full Text] [Related]
20. Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.
Parman Y; Planté-Bordeneuve V; Guiochon-Mantel A; Eraksoy M; Said G
Ann Neurol; 1999 Apr; 45(4):518-22. PubMed ID: 10211478
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]