206 related articles for article (PubMed ID: 15744041)
1. 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. PubMed ID: 15744041
[No Abstract] [Full Text] [Related]
2. Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).
Gambardella A; Bono F; Muglia M; Valentino P; Quattrone A
Ann N Y Acad Sci; 1999 Sep; 883():47-55. PubMed ID: 10586229
[TBL] [Abstract][Full Text] [Related]
3. 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; 62(3):344-9. PubMed ID: 10644431
[TBL] [Abstract][Full Text] [Related]
4. 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; 883():453-6. PubMed ID: 10586271
[No Abstract] [Full Text] [Related]
5. 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; 883():56-9. PubMed ID: 10586230
[No Abstract] [Full Text] [Related]
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. PubMed ID: 10602360
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 11528513
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 8894708
[TBL] [Abstract][Full Text] [Related]
9. 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; 63(2):271-8. PubMed ID: 10673338
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 17470135
[TBL] [Abstract][Full Text] [Related]
11. Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.
Nelis E; Erdem S; Van Den Bergh PY; Belpaire-Dethiou MC; Ceuterick C; Van Gerwen V; Cuesta A; Pedrola L; Palau F; Gabreëls-Festen AA; Verellen C; Tan E; Demirci M; Van Broeckhoven C; De Jonghe P; Topaloglu H; Timmerman V
Neurology; 2002 Dec; 59(12):1865-72. PubMed ID: 12499475
[TBL] [Abstract][Full Text] [Related]
12. Clinicopathological and genetic study of early-onset demyelinating neuropathy.
Parman Y; Battaloglu E; Baris I; Bilir B; Poyraz M; Bissar-Tadmouri N; Williams A; Ammar N; Nelis E; Timmerman V; De Jonghe P; Najafov A; Deymeer F; Serdaroglu P; Brophy PJ; Said G
Brain; 2004 Nov; 127(Pt 11):2540-50. PubMed ID: 15469949
[TBL] [Abstract][Full Text] [Related]
13. [From gene to disease; Charcot-Marie-Tooth disease or the hereditary motor and sensory neuropathies].
Verhamme C; Baas F
Ned Tijdschr Geneeskd; 2005 Jul; 149(27):1505-9. PubMed ID: 16032995
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 10848494
[TBL] [Abstract][Full Text] [Related]
15. A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease.
Kessali M; Zemmouri R; Guilbot A; Maisonobe T; Brice A; LeGuern E; Grid D
Neurology; 1997 Apr; 48(4):867-73. PubMed ID: 9109869
[TBL] [Abstract][Full Text] [Related]
16. Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene.
Kabzińska D; Kochański A; Drac H; Ryniewicz B; Rowińska-Marcińska K; Hausmanowa-Petrusewicz I
Neuropediatrics; 2005 Jun; 36(3):206-9. PubMed ID: 15944907
[TBL] [Abstract][Full Text] [Related]
17. The first Japanese case of Charcot-Marie-Tooth disease type 4H with a novel FGD4 c.837-1G>A mutation.
Arai H; Hayashi M; Hayasaka K; Kanda T; Tanabe Y
Neuromuscul Disord; 2013 Aug; 23(8):652-5. PubMed ID: 23770104
[TBL] [Abstract][Full Text] [Related]
18. Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene.
Kabzinska D; Drac H; Sherman DL; Kostera-Pruszczyk A; Brophy PJ; Kochanski A; Hausmanowa-Petrusewicz I
Neurology; 2006 Mar; 66(5):745-7. PubMed ID: 16534116
[TBL] [Abstract][Full Text] [Related]
19. A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease.
Kabzińska D; Kochański A; Drac H; Rowińska-Marcińska K; Ryniewicz B; Pedrola L; Palau F; Hausmanowa-Petrusewicz I
J Neurol Sci; 2006 Feb; 241(1-2):7-11. PubMed ID: 16343542
[TBL] [Abstract][Full Text] [Related]
20. Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing.
Bolino A; Brancolini V; Bono F; Bruni A; Gambardella A; Romeo G; Quattrone A; Devoto M
Hum Mol Genet; 1996 Jul; 5(7):1051-4. PubMed ID: 8817346
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
