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Results: 1 to 20 of 240

Similar articles for PubMed (Select 10915613)

1.

A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.

Rogers T, Chandler D, Angelicheva D, Thomas PK, Youl B, Tournev I, Gergelcheva V, Kalaydjieva L.

Am J Hum Genet. 2000 Sep;67(3):664-71. Epub 2000 Jul 27.

2.

Refined mapping of the HMSNR critical gene region--construction of a high-density integrated genetic and physical map.

Hantke J, Rogers T, French L, Tournev I, Guergueltcheva V, Urtizberea JA, Colomer J, Corches A, Lupu C, Merlini L, Thomas PK, Kalaydjieva L.

Neuromuscul Disord. 2003 Nov;13(9):729-36.

PMID:
14561496
3.

Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1.

Guilbot A, Ravisé N, Bouhouche A, Coullin P, Birouk N, Maisonobe T, Kuntzer T, Vial C, Grid D, Brice A, LeGuern E.

Eur J Hum Genet. 1999 Dec;7(8):849-59.

4.

The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.

Claramunt R, Sevilla T, Lupo V, Cuesta A, Millán JM, Vílchez JJ, Palau F, Espinós C.

Clin Genet. 2007 Apr;71(4):343-9.

PMID:
17470135
5.

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, Müller-Felber W, Rizzuto N, Fabrizi GM, Stuhrmann M, Rudnik-Schöneborn S, Züchner S, Michael Schröder J, Buchheim E, Straub V, Klepper J, Huehne K, Rautenstrauss B, Büttner R, Nelis E, Zerres K.

Am J Hum Genet. 2003 Nov;73(5):1106-19. Epub 2003 Oct 21.

6.

A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.

Leal A, Morera B, Del Valle G, Heuss D, Kayser C, Berghoff M, Villegas R, Hernández E, Méndez M, Hennies HC, Neundörfer B, Barrantes R, Reis A, Rautenstrauss B.

Am J Hum Genet. 2001 Jan;68(1):269-74. Epub 2000 Dec 7.

7.

A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.

Bouhouche A, Benomar A, Birouk N, Mularoni A, Meggouh F, Tassin J, Grid D, Vandenberghe A, Yahyaoui M, Chkili T, Brice A, LeGuern E.

Am J Hum Genet. 1999 Sep;65(3):722-7.

8.

N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.

Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, de Jonge R, Blechschmidt K, Angelicheva D, Chandler D, Worsley P, Rosenthal A, King RH, Thomas PK.

Am J Hum Genet. 2000 Jul;67(1):47-58. Epub 2000 May 30.

9.

Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.

Kennerson ML, Zhu D, Gardner RJ, Storey E, Merory J, Robertson SP, Nicholson GA.

Am J Hum Genet. 2001 Oct;69(4):883-8. Epub 2001 Aug 28.

10.

Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.

Othmane KB, Johnson E, Menold M, Graham FL, Hamida MB, Hasegawa O, Rogala AD, Ohnishi A, Pericak-Vance M, Hentati F, Vance JM.

Genomics. 1999 Dec 15;62(3):344-9.

PMID:
10644431
11.

Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).

Gambardella A, Bolino A, Muglia M, Valentino P, Bono F, Oliveri RL, Sabatelli M, Brancolini V, Van Broeckhoven C, Romeo G, Devoto M, Quattrone A.

Neurology. 1998 Mar;50(3):799-801.

PMID:
9521281
12.

Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.

Delague V, Bareil C, Tuffery S, Bouvagnet P, Chouery E, Koussa S, Maisonobe T, Loiselet J, Mégarbané A, Claustres M.

Am J Hum Genet. 2000 Jul;67(1):236-43. Epub 2000 Jun 2.

13.

Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33.

LeGuern E, Guilbot A, Kessali M, Ravisé N, Tassin J, Maisonobe T, Grid D, Brice A.

Hum Mol Genet. 1996 Oct;5(10):1685-8.

14.

Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.

Gabreëls-Festen A, van Beersum S, Eshuis L, LeGuern E, Gabreëls F, van Engelen B, Mariman E.

J Neurol Neurosurg Psychiatry. 1999 May;66(5):569-74.

15.

Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1.

Verhoeven K, Villanova M, Rossi A, Malandrini A, De Jonghe P, Timmerman V.

Am J Hum Genet. 2001 Oct;69(4):889-94. Epub 2001 Aug 30.

16.

Fine localization of the CMT4A locus using a PAC contig and haplotype analysis.

Ben Othmane K, Rochelle JM, Ben Hamida M, Slotterbeck B, Rao N, Hentati F, Pericak-Vance MA, Vance JM.

Neurogenetics. 1998 Dec;2(1):18-23.

PMID:
9933296
17.

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.

De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N.

Am J Hum Genet. 2002 Mar;70(3):726-36. Epub 2002 Jan 17. Erratum in: Am J Hum Genet 2002 Apr;70(4):1075.

18.

Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.

Bolino A, Levy ER, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou RK, Hausmanowa-Petrusewicz I, Mandich P, Gambardella A, Quattrone A, Devoto M, Monaco AP.

Genomics. 2000 Jan 15;63(2):271-8.

PMID:
10673338
19.

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.

Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR.

Nat Genet. 1998 Apr;18(4):382-4.

PMID:
9537424
20.

Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.

Kwon JM, Elliott JL, Yee WC, Ivanovich J, Scavarda NJ, Moolsintong PJ, Goodfellow PJ.

Am J Hum Genet. 1995 Oct;57(4):853-8.

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