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Results: 1 to 20 of 256

1.

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]
2.

Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.

Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Löfgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C.

Neurology. 1999 Jun 10;52(9):1827-32.

PMID:
10371530
[PubMed - indexed for MEDLINE]
3.

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]
4.

Congenital hypomyelinating neuropathy due to a novel MPZ mutation.

Sevilla T, Lupo V, Sivera R, Marco-Marín C, Martínez-Rubio D, Rivas E, Hernández A, Palau F, Espinós C.

J Peripher Nerv Syst. 2011 Dec;16(4):347-52. doi: 10.1111/j.1529-8027.2011.00369.x.

PMID:
22176150
[PubMed - indexed for MEDLINE]
5.

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]
6.

A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B.

Fabrizi GM, Ferrarini M, Cavallaro T, Jarre L, Polo A, Rizzuto N.

Neurology. 2001 Jul 10;57(1):101-5.

PMID:
11445635
[PubMed - indexed for MEDLINE]
7.

[Molecular genetics of inherited neuropathies].

Takashima H.

Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Review. Japanese.

PMID:
16541790
[PubMed - indexed for MEDLINE]
8.

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]
9.

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
10.

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.

PMID:
11314784
[PubMed - indexed for MEDLINE]
11.

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]
12.

Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin.

Houlden H, King RH, Wood NW, Thomas PK, Reilly MM.

Brain. 2001 May;124(Pt 5):907-15.

PMID:
11335693
[PubMed - indexed for MEDLINE]
Free Article
13.

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]
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.

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.

PMID:
8816708
[PubMed - indexed for MEDLINE]
Free Article
16.

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]
17.

Dysmyelinating and demyelinating Charcot-Marie-Tooth disease associated with two myelin protein zero gene mutations.

Drac H, Kabzińska D, Moszyńska I, Strugalska-Cynowska H, Hausmanowa-Petrusewicz I, Kochański A.

J Appl Genet. 2011 May;52(2):177-83. doi: 10.1007/s13353-010-0003-3. Epub 2010 Nov 3.

PMID:
21107784
[PubMed - indexed for MEDLINE]
18.

Dejerine-Sottas' neuropathy caused by the missense mutation PMP22 Ser72Leu.

Marques W Jr, Neto JM, Barreira AA.

Acta Neurol Scand. 2004 Sep;110(3):196-9.

PMID:
15285778
[PubMed - indexed for MEDLINE]
19.

Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.

Laurà M, Milani M, Morbin M, Moggio M, Ripolone M, Jann S, Scaioli V, Taroni F, Pareyson D.

J Neurol Neurosurg Psychiatry. 2007 Nov;78(11):1263-6.

PMID:
17940173
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.

Plante-Bordeneuve V, Said G.

Muscle Nerve. 2002 Nov;26(5):608-21. Review.

PMID:
12402282
[PubMed - indexed for MEDLINE]

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