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Results: 1 to 20 of 150

1.

Pathology of a mouse mutation in peripheral myelin protein P0 is characteristic of a severe and early onset form of human Charcot-Marie-Tooth type 1B disorder.

Rünker AE, Kobsar I, Fink T, Loers G, Tilling T, Putthoff P, Wessig C, Martini R, Schachner M.

J Cell Biol. 2004 May 24;165(4):565-73. Epub 2004 May 17.

PMID:
15148307
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B.

Saporta MA, Shy BR, Patzko A, Bai Y, Pennuto M, Ferri C, Tinelli E, Saveri P, Kirschner D, Crowther M, Southwood C, Wu X, Gow A, Feltri ML, Wrabetz L, Shy ME.

Brain. 2012 Jul;135(Pt 7):2032-47. doi: 10.1093/brain/aws140. Epub 2012 Jun 10.

PMID:
22689911
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies.

Martini R, Zielasek J, Toyka KV, Giese KP, Schachner M.

Nat Genet. 1995 Nov;11(3):281-6.

PMID:
7581451
[PubMed - indexed for MEDLINE]
4.

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ.

Acta Neurol Scand Suppl. 2012;(193):iv-22. doi: 10.1111/ane.12013.

PMID:
23106488
[PubMed - indexed for MEDLINE]
5.

Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero.

Fabrizi GM, Taioli F, Cavallaro T, Rigatelli F, Simonati A, Mariani G, Perrone P, Rizzuto N.

Acta Neuropathol. 2000 Sep;100(3):299-304.

PMID:
10965800
[PubMed - indexed for MEDLINE]
6.

Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met.

Senderek J, Hermanns B, Lehmann U, Bergmann C, Marx G, Kabus C, Timmerman V, Stoltenburg-Didinger G, Schröder JM.

Brain Pathol. 2000 Apr;10(2):235-48.

PMID:
10764043
[PubMed - indexed for MEDLINE]
7.

A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.

Kochanski A, Drac H, Kabzińska D, Hausmanowa-Petrusewicz I.

Neuromuscul Disord. 2004 Mar;14(3):229-32.

PMID:
15036333
[PubMed - indexed for MEDLINE]
8.

Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.

Kochański A, Drac H, Jedrzejowska H, Hausmanowa-Petrusewicz I.

Eur J Neurol. 2003 Sep;10(5):547-9.

PMID:
12940837
[PubMed - indexed for MEDLINE]
9.

Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration.

Li J, Bai Y, Ianakova E, Grandis M, Uchwat F, Trostinskaia A, Krajewski KM, Garbern J, Kupsky WJ, Shy ME.

J Comp Neurol. 2006 Sep 10;498(2):252-65.

PMID:
16856127
[PubMed - indexed for MEDLINE]
10.

Functional abnormalities in P0-deficient mice resemble human hereditary neuropathies linked to P0 gene mutations.

Zielasek J, Martini R, Toyka KV.

Muscle Nerve. 1996 Aug;19(8):946-52.

PMID:
8756159
[PubMed - indexed for MEDLINE]
11.

Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice.

Wrabetz L, D'Antonio M, Pennuto M, Dati G, Tinelli E, Fratta P, Previtali S, Imperiale D, Zielasek J, Toyka K, Avila RL, Kirschner DA, Messing A, Feltri ML, Quattrini A.

J Neurosci. 2006 Feb 22;26(8):2358-68.

PMID:
16495463
[PubMed - indexed for MEDLINE]
Free Article
12.

Common themes in peripheral neuropathy disease genes.

Snipes GJ, Orfali W.

Cell Biol Int. 1998 Nov;22(11-12):815-35. Review.

PMID:
10873294
[PubMed - indexed for MEDLINE]
13.

Epitope-tagged P(0) glycoprotein causes Charcot-Marie-Tooth-like neuropathy in transgenic mice.

Previtali SC, Quattrini A, Fasolini M, Panzeri MC, Villa A, Filbin MT, Li W, Chiu SY, Messing A, Wrabetz L, Feltri ML.

J Cell Biol. 2000 Nov 27;151(5):1035-46.

PMID:
11086005
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

A novel MPZ mutation in Charcot-Marie-Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies.

Iida M, Koike H, Ando T, Sugiura M, Yamamoto M, Tanaka F, Sobue G.

Neuromuscul Disord. 2012 Feb;22(2):166-9. doi: 10.1016/j.nmd.2011.08.005. Epub 2011 Sep 21.

PMID:
21940171
[PubMed - indexed for MEDLINE]
15.

Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells.

Horn M, Baumann R, Pereira JA, Sidiropoulos PN, Somandin C, Welzl H, Stendel C, Lühmann T, Wessig C, Toyka KV, Relvas JB, Senderek J, Suter U.

Brain. 2012 Dec;135(Pt 12):3567-83. doi: 10.1093/brain/aws275. Epub 2012 Nov 20.

PMID:
23171661
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

De novo mutation (Arg98-->Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B.

Komiyama A, Ohnishi A, Izawa K, Yamamori S, Ohashi H, Hasegawa O.

J Neurol Sci. 1997 Jul;149(1):103-9. Review.

PMID:
9168174
[PubMed - indexed for MEDLINE]
17.

Ultrastructural protein zero expression in Charcot-Marie-Tooth type 1B disease.

Sindou P, Vallat JM, Chapon F, Archelos JJ, Tabaraud F, Anani T, Braund KG, Maisonobe T, Hauw JJ, Vandenberghe A.

Muscle Nerve. 1999 Jan;22(1):99-104.

PMID:
9883862
[PubMed - indexed for MEDLINE]
18.

Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice.

Patzkó A, Bai Y, Saporta MA, Katona I, Wu X, Vizzuso D, Feltri ML, Wang S, Dillon LM, Kamholz J, Kirschner D, Sarkar FH, Wrabetz L, Shy ME.

Brain. 2012 Dec;135(Pt 12):3551-66. doi: 10.1093/brain/aws299.

PMID:
23250879
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Peripheral myelin modification in CMT1B correlates with MPZ gene mutations.

Lagueny A, Latour P, Vital A, Rajabally Y, Le Masson G, Ferrer X, Bernard I, Julien J, Vital C, Vandenberghe A.

Neuromuscul Disord. 1999 Oct;9(6-7):361-7.

PMID:
10545037
[PubMed - indexed for MEDLINE]
20.

Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene.

Blanquet-Grossard F, Pham-Dinh D, Dautigny A, Latour P, Bonnebouche C, Corbillon E, Chazot G, Vandenberghe A.

Clin Genet. 1995 Dec;48(6):281-3.

PMID:
8835320
[PubMed - indexed for MEDLINE]

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