Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 105

1.

The autosomal recessive form of CMT disease linked to 5q31-q33.

Guilbot A, Kessali M, Ravisé N, Hammadouche T, Bouhouche A, Maisonobe T, Grid D, Brice A, LeGuern E.

Ann N Y Acad Sci. 1999 Sep 14;883:453-6. No abstract available.

PMID:
10586271
2.

The autosomal recessive form of CMT disease linked to 5q31-q33.

Guilbot A, Kessali M, Ravisé N, Hammadouche T, Bouhouche A, Maisonobe T, Grid D, Brice A, Leguern E.

Ann N Y Acad Sci. 1999 Sep 14;883:56-9. No abstract available.

PMID:
10586230
3.

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.

PMID:
8894708
4.

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.

5.
6.

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.

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.

Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11.

De Sandre-Giovannoli A, Delague V, Hamadouche T, Chaouch M, Krahn M, Boccaccio I, Maisonobe T, Chouery E, Jabbour R, Atweh S, Grid D, Mégarbané A, Lévy N.

J Med Genet. 2005 Mar;42(3):260-5. No abstract available.

9.

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.

10.

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.

11.

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.

12.

Autosomal-recessive Charcot-Marie-Tooth diseases.

Vallat JM, Tazir M, Magdelaine C, Sturtz F, Grid D.

J Neuropathol Exp Neurol. 2005 May;64(5):363-70. Review.

PMID:
15892292
13.

Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

Ben Othmane K, Hentati F, Lennon F, Ben Hamida C, Blel S, Roses AD, Pericak-Vance MA, Ben Hamida M, Vance JM.

Hum Mol Genet. 1993 Oct;2(10):1625-8.

PMID:
8268915
14.

Autosomal recessive forms of Charcot-Marie-Tooth disease.

Vallat JM, Grid D, Magdelaine C, Sturtz F, Tazir M.

Curr Neurol Neurosci Rep. 2004 Sep;4(5):413-9.

PMID:
15324608
15.

Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3.

Barhoumi C, Amouri R, Ben Hamida C, Ben Hamida M, Machghoul S, Gueddiche M, Hentati F.

Neuromuscul Disord. 2001 Jan;11(1):27-34.

PMID:
11166163
16.

Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.

Dubourg O, Azzedine H, Verny C, Durosier G, Birouk N, Gouider R, Salih M, Bouhouche A, Thiam A, Grid D, Mayer M, Ruberg M, Tazir M, Brice A, LeGuern E.

Neuromolecular Med. 2006;8(1-2):75-86. Review.

PMID:
16775368
17.

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
18.

A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family.

Xin B, Puffenberger E, Nye L, Wiznitzer M, Wang H.

Clin Genet. 2008 Sep;74(3):274-8. doi: 10.1111/j.1399-0004.2008.01018.x. Epub 2008 May 19.

PMID:
18492089
19.

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.

20.

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21.

Ismailov SM, Fedotov VP, Dadali EL, Polyakov AV, Van Broeckhoven C, Ivanov VI, De Jonghe P, Timmerman V, Evgrafov OV.

Eur J Hum Genet. 2001 Aug;9(8):646-50.

Supplemental Content

Support Center