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Results: 1 to 20 of 158

1.

Corticosteroid- responsive asymmetric neuropathy with a myelin protein zero gene mutation.

Watanabe M, Yamamoto N, Ohkoshi N, Nagata H, Kohno Y, Hayashi A, Tamaoka A, Shoji S.

Neurology. 2002 Sep 10;59(5):767-9. Review.

PMID:
12221176
[PubMed - indexed for MEDLINE]
2.

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.

Leal A, Berghoff C, Berghoff M, Del Valle G, Contreras C, Montoya O, Hernández E, Barrantes R, Schlötzer-Schrehardt U, Neundörfer B, Reis A, Rautenstrauss B, Heuss D.

Neurogenetics. 2003 Aug;4(4):191-7. Epub 2003 Jul 5.

PMID:
12845552
[PubMed - indexed for MEDLINE]
3.

Expression of P0 protein in sural nerve of a patient with hereditary motor and sensory neuropathy type III.

Tachi N, Kasai K, Chiba S, Naganuma M, Uyemura K, Hayasaka K.

J Neurol Sci. 1994 Jun;124(1):67-70.

PMID:
7523605
[PubMed - indexed for MEDLINE]
4.

A novel MPZ gene mutation in congenital neuropathy with hypomyelination.

Kochanski A, Drac H, Kabzińska D, Ryniewicz B, Rowińska-Marcińska K, Nowakowski A, Hausmanowa-Petrusewicz I.

Neurology. 2004 Jun 8;62(11):2122-3.

PMID:
15184631
[PubMed - indexed for MEDLINE]
5.

Charcot-Marie-Tooth disease and related peripheral neuropathies: novel mutations in the peripheral myelin genes connexin 32 (Cx32), peripheral myelin protein 22 (PMP22), and peripheral myelin protein zero (MPZ).

Ekici AB, Schweitzer D, Park O, Lorek D, Rautenstrauss B, Krüger G, Friedl W, Uhlhaas S, Bathke K, Heuss D, Kayser C, Grehl H.

Neurogenetics. 2000 Sep;3(1):49-50. No abstract available.

PMID:
11085599
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
10399750
[PubMed - indexed for MEDLINE]
7.

Congenital hypomyelinating neuropathy: two patients with long-term follow-up.

Phillips JP, Warner LE, Lupski JR, Garg BP.

Pediatr Neurol. 1999 Mar;20(3):226-32. Review.

PMID:
10207934
[PubMed - indexed for MEDLINE]
8.

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

Mastaglia FL, Nowak KJ, Stell R, Phillips BA, Edmondston JE, Dorosz SM, Wilton SD, Hallmayer J, Kakulas BA, Laing NG.

J Neurol Neurosurg Psychiatry. 1999 Aug;67(2):174-9.

PMID:
10406984
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

A small direct tandem duplication of the myelin protein zero gene in a patient with Dejerine-Sottas disease phenotype.

Tachi N, Kozuka N, Ohya K, Chiba S, Yamashita S.

J Neurol Sci. 1998 Apr 1;156(2):167-71.

PMID:
9588852
[PubMed - indexed for MEDLINE]
10.

The range of chronic demyelinating neuropathy of infancy: a clinico-pathological and genetic study of 15 unrelated cases.

Planté-Bordeneuve V, Parman Y, Guiochon-Mantel A, Alj Y, Deymeer F, Serdaroglu P, Eraksoy M, Said G.

J Neurol. 2001 Sep;248(9):795-803.

PMID:
11596785
[PubMed - indexed for MEDLINE]
11.

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. Epub 2003 May 6. Erratum in: Brain. 2003 Jul;126(Pt 7):1718.

PMID:
12805115
[PubMed - indexed for MEDLINE]
Free Article
12.

Inherited demyelinating peripheral neuropathies: relating myelin packing abnormalities to P0 molecular defects.

Kirschner DA, Szumowski K, Gabreëls-Festen AA, Hoogendijk JE, Bolhuis PA.

J Neurosci Res. 1996 Nov 15;46(4):502-8.

PMID:
8950710
[PubMed - indexed for MEDLINE]
13.

Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene).

Baloh RH, Jen JC, Kim G, Baloh RW.

Neurology. 2004 May 25;62(10):1905-6. No abstract available.

PMID:
15159512
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
12242557
[PubMed - indexed for MEDLINE]
15.

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

Khajavi M, Inoue K, Wiszniewski W, Ohyama T, Snipes GJ, Lupski JR.

Am J Hum Genet. 2005 Nov;77(5):841-50. Epub 2005 Sep 30.

PMID:
16252242
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Dejerine-sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22.

Ohnishi A, Yamamoto T, Izawa K, Yamamori S, Takahashi K, Mega H, Jinnai K.

Acta Neuropathol. 2000 Mar;99(3):327-30.

PMID:
10663978
[PubMed - indexed for MEDLINE]
17.

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. Epub 2004 Jan 7. Review.

PMID:
14711881
[PubMed - indexed for MEDLINE]
Free Article
18.

Normal expression of myelin protein zero with frame-shift mutation correlates with mild phenotype.

Steck AJ, Erne B, Pareyson D, Sghirlanzoni A, Taroni F, Schaeren-Wiemers N.

J Peripher Nerv Syst. 2006 Mar;11(1):61-6.

PMID:
16519783
[PubMed - indexed for MEDLINE]
19.

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.

PMID:
9222756
[PubMed - indexed for MEDLINE]
20.

A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths.

Nakagawa M, Suehara M, Saito A, Takashima H, Umehara F, Saito M, Kanzato N, Matsuzaki T, Takenaga S, Sakoda S, Izumo S, Osame M.

Neurology. 1999 Apr 12;52(6):1271-5.

PMID:
10214757
[PubMed - indexed for MEDLINE]

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