163 related articles for article (PubMed ID: 11053687)
1. Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy.
Zemmouri R; Azzedine H; Assami S; Kitouni N; Vallat JM; Maisonobe T; Hamadouche T; Kessaci M; Mansouri B; Le Guern E; Grid D; Tazir M
Neuromuscul Disord; 2000 Dec; 10(8):592-8. PubMed ID: 11053687
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 11166163
[TBL] [Abstract][Full Text] [Related]
3. Genetic heterogeneity in giant axonal neuropathy: an Algerian family not linked to chromosome 16q24.1.
Tazir M; Vallat JM; Bomont P; Zemmouri R; Sindou P; Assami S; Nouioua S; Hammadouche T; Grid D; Koenig M
Neuromuscul Disord; 2002 Nov; 12(9):849-52. PubMed ID: 12398836
[TBL] [Abstract][Full Text] [Related]
4. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Montecchiani C; Pedace L; Lo Giudice T; Casella A; Mearini M; Gaudiello F; Pedroso JL; Terracciano C; Caltagirone C; Massa R; St George-Hyslop PH; Barsottini OG; Kawarai T; Orlacchio A
Brain; 2016 Jan; 139(Pt 1):73-85. PubMed ID: 26556829
[TBL] [Abstract][Full Text] [Related]
5. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
Sevilla T; Lupo V; Martínez-Rubio D; Sancho P; Sivera R; Chumillas MJ; García-Romero M; Pascual-Pascual SI; Muelas N; Dopazo J; Vílchez JJ; Palau F; Espinós C
Brain; 2016 Jan; 139(Pt 1):62-72. PubMed ID: 26497905
[TBL] [Abstract][Full Text] [Related]
6. NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.
Berciano J; Peeters K; García A; López-Alburquerque T; Gallardo E; Hernández-Fabián A; Pelayo-Negro AL; De Vriendt E; Infante J; Jordanova A
J Neurol; 2016 Feb; 263(2):361-369. PubMed ID: 26645395
[TBL] [Abstract][Full Text] [Related]
7. Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred.
Ben Hamida M; Hentati F; Ben Hamida C
Neurology; 1990 Feb; 40(2):245-50. PubMed ID: 2153943
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 10441578
[TBL] [Abstract][Full Text] [Related]
9. The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.
Chaouch M; Allal Y; De Sandre-Giovannoli A; Vallat JM; Amer-el-Khedoud A; Kassouri N; Chaouch A; Sindou P; Hammadouche T; Tazir M; Lévy N; Grid D
Neuromuscul Disord; 2003 Jan; 13(1):60-7. PubMed ID: 12467734
[TBL] [Abstract][Full Text] [Related]
10. Similar clinical, pathological, and genetic features in Chinese patients with autosomal recessive and dominant Charcot-Marie-Tooth disease type 2K.
Fu J; Dai S; Lu Y; Wu R; Wang Z; Yuan Y; Lv H
Neuromuscul Disord; 2017 Aug; 27(8):760-765. PubMed ID: 28495047
[TBL] [Abstract][Full Text] [Related]
11. Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.
Aharoni S; Barwick KE; Straussberg R; Harlalka GV; Nevo Y; Chioza BA; McEntagart MM; Mimouni-Bloch A; Weedon M; Crosby AH
BMC Med Genet; 2016 Nov; 17(1):82. PubMed ID: 27852232
[TBL] [Abstract][Full Text] [Related]
12. Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.
Tazir M; Azzedine H; Assami S; Sindou P; Nouioua S; Zemmouri R; Hamadouche T; Chaouch M; Feingold J; Vallat JM; Leguern E; Grid D
Brain; 2004 Jan; 127(Pt 1):154-63. PubMed ID: 14607793
[TBL] [Abstract][Full Text] [Related]
13. Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations.
Brockmann K; Dreha-Kulaczewski S; Dechent P; Bönnemann C; Helms G; Kyllerman M; Brück W; Frahm J; Huehne K; Gärtner J; Rautenstrauss B
J Neurol; 2008 Jul; 255(7):1049-58. PubMed ID: 18425620
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 11112660
[TBL] [Abstract][Full Text] [Related]
15. Sural biopsy to detect the axonal cytoskeleton defects in
Du K; Meng L; Lv H; Zhang W; Wang Z; Yuan Y
Clin Neuropathol; 2021; 40(3):142-149. PubMed ID: 33155544
[TBL] [Abstract][Full Text] [Related]
16. [Genetic study of the autosomal recessive form of Charcot-Marie-Tooth in an Algerian family].
Hamadouche T; Tazir-Melboucy M; Benhassine T
Arch Inst Pasteur Alger; 1998; 62():268-84. PubMed ID: 11256316
[TBL] [Abstract][Full Text] [Related]
17. Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.
Birouk N; Azzedine H; Dubourg O; Muriel MP; Benomar A; Hamadouche T; Maisonobe T; Ouazzani R; Brice A; Yahyaoui M; Chkili T; Le Guern E
Arch Neurol; 2003 Apr; 60(4):598-604. PubMed ID: 12707075
[TBL] [Abstract][Full Text] [Related]
18. SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.
Manole A; Horga A; Gamez J; Raguer N; Salvado M; San Millán B; Navarro C; Pittmann A; Reilly MM; Houlden H
Neurogenetics; 2017 Jan; 18(1):63-67. PubMed ID: 28005197
[TBL] [Abstract][Full Text] [Related]
19.
Park J; Flores BR; Scherer K; Kuepper H; Rossi M; Rupprich K; Rautenberg M; Deininger N; Weichselbaum A; Grimm A; Sturm M; Grasshoff U; Delpire E; Haack TB
J Med Genet; 2020 Apr; 57(4):283-288. PubMed ID: 31439721
[TBL] [Abstract][Full Text] [Related]
20. Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity.
Lus G; Nelis E; Jordanova A; Löfgren A; Cavallaro T; Ammendola A; Melone MA; Rizzuto N; Timmerman V; Cotrufo R; De Jonghe P
Neurology; 2003 Oct; 61(7):988-90. PubMed ID: 14557576
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
