210 related articles for article (PubMed ID: 12242557)
1. Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0.
Simonati A; Fabrizi GM; Taioli F; Polo A; Cerini R; Rizzuto N
J Neurol; 2002 Sep; 249(9):1298-302. PubMed ID: 12242557
[TBL] [Abstract][Full Text] [Related]
2. Phenotypic clustering in MPZ mutations.
Shy ME; Jáni A; Krajewski K; Grandis M; Lewis RA; Li J; Shy RR; Balsamo J; Lilien J; Garbern JY; Kamholz J
Brain; 2004 Feb; 127(Pt 2):371-84. PubMed ID: 14711881
[TBL] [Abstract][Full Text] [Related]
3. Severe demyelinating hypertrophic polyneuropathy caused by a de novo frameshift mutation within the intracellular domain of myelin protein zero (MPZ/P0).
Zschüntzsch J; Dibaj P; Pilgram S; Kötting J; Gerding WM; Neusch C
J Neurol Sci; 2009 Jun; 281(1-2):113-5. PubMed ID: 19344920
[TBL] [Abstract][Full Text] [Related]
4. [Molecular genetics of inherited neuropathies].
Takashima H
Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype.
Floroskufi P; Panas M; Karadima G; Vassilopoulos D
Muscle Nerve; 2007 May; 35(5):667-9. PubMed ID: 17143884
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. P0-deficient knockout mice as tools to understand pathomechanisms in Charcot-Marie-Tooth 1B and P0-related Déjérine-Sottas syndrome.
Martini R
Ann N Y Acad Sci; 1999 Sep; 883():273-80. PubMed ID: 10586252
[TBL] [Abstract][Full Text] [Related]
9. Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene.
Taioli F; Cabrini I; Cavallaro T; Simonati A; Testi S; Fabrizi GM
J Peripher Nerv Syst; 2011 Mar; 16(1):59-64. PubMed ID: 21504504
[TBL] [Abstract][Full Text] [Related]
10. Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (Tyr145->Ser).
Starr A; Michalewski HJ; Zeng FG; Fujikawa-Brooks S; Linthicum F; Kim CS; Winnier D; Keats B
Brain; 2003 Jul; 126(Pt 7):1604-19. PubMed ID: 12805115
[TBL] [Abstract][Full Text] [Related]
11. Marked phenotypic variation in a family with a new myelin protein zero mutation.
Szabo A; Züchner S; Siska E; Mechler F; Molnar MJ
Neuromuscul Disord; 2005 Nov; 15(11):760-3. PubMed ID: 16198109
[TBL] [Abstract][Full Text] [Related]
12. A novel MPZ gene mutation in exon 2 causing late-onset demyelinating Charcot-Marie-Tooth disease.
Chavada G; Rao DG; Martindale J; Hadjivassiliou M
J Clin Neuromuscul Dis; 2012 Jun; 13(4):206-8. PubMed ID: 22622165
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Infantile hereditary neuropathy with hypomyelination: report of two siblings with different expressivity.
Balestrini MR; Cavaletti G; D'Angelo A; Tredici G
Neuropediatrics; 1991 May; 22(2):65-70. PubMed ID: 1857496
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
Warner LE; Hilz MJ; Appel SH; Killian JM; Kolodry EH; Karpati G; Carpenter S; Watters GV; Wheeler C; Witt D; Bodell A; Nelis E; Van Broeckhoven C; Lupski JR
Neuron; 1996 Sep; 17(3):451-60. PubMed ID: 8816708
[TBL] [Abstract][Full Text] [Related]
17. Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation.
Eggers SD; Keswani SC; Melli G; Cornblath DR
Muscle Nerve; 2004 Jun; 29(6):867-9. PubMed ID: 15170620
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.
Plante-Bordeneuve V; Said G
Muscle Nerve; 2002 Nov; 26(5):608-21. PubMed ID: 12402282
[TBL] [Abstract][Full Text] [Related]
20. Germline mosaicism of MPZ gene in Dejerine-Sottas syndrome (HMSN III) associated with hereditary stomatocytosis.
Takashima H; Nakagawa M; Kanzaki A; Yawata Y; Horikiri T; Matsuzaki T; Suehara M; Izumo S; Osame M
Neuromuscul Disord; 1999 Jun; 9(4):232-8. PubMed ID: 10399750
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]