214 related articles for article (PubMed ID: 32165109)
21. Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.
Tanabe H; Higuchi Y; Yuan JH; Hashiguchi A; Yoshimura A; Ishihara S; Nozuma S; Okamoto Y; Matsuura E; Ishiura H; Mitsui J; Takashima R; Kokubun N; Maeda K; Asano Y; Sunami Y; Kono Y; Ishigaki Y; Yanamoto S; Fukae J; Kida H; Morita M; Tsuji S; Takashima H
J Peripher Nerv Syst; 2018 Mar; 23(1):40-48. PubMed ID: 29381233
[TBL] [Abstract][Full Text] [Related]
22. Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy.
Solla P; Vannelli A; Bolino A; Marrosu G; Coviello S; Murru MR; Tranquilli S; Corongiu D; Benedetti S; Marrosu MG
J Neurol Neurosurg Psychiatry; 2010 Sep; 81(9):958-62. PubMed ID: 20660910
[TBL] [Abstract][Full Text] [Related]
23. De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.
Motley WW; Palaima P; Yum SW; Gonzalez MA; Tao F; Wanschitz JV; Strickland AV; Löscher WN; De Vriendt E; Koppi S; Medne L; Janecke AR; Jordanova A; Zuchner S; Scherer SS
Brain; 2016 Jun; 139(Pt 6):1649-56. PubMed ID: 27009151
[TBL] [Abstract][Full Text] [Related]
24. Hereditary sensory neuropathies.
Houlden H; Blake J; Reilly MM
Curr Opin Neurol; 2004 Oct; 17(5):569-77. PubMed ID: 15367861
[TBL] [Abstract][Full Text] [Related]
25. A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease.
Shiga K; Noto Y; Mizuta I; Hashiguchi A; Takashima H; Nakagawa M
J Peripher Nerv Syst; 2012 Jun; 17(2):206-9. PubMed ID: 22734907
[TBL] [Abstract][Full Text] [Related]
26. Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients.
Guimarães-Costa R; Iancu Ferfoglia R; Leonard-Louis S; Ziegler F; Magy L; Fournier E; Dubourg O; Bouche P; Maisonobe T; Lacour A; Moerman A; Latour P; Stojkovic T
Eur J Neurol; 2017 Mar; 24(3):530-538. PubMed ID: 28211240
[TBL] [Abstract][Full Text] [Related]
27. [Analysis of a pedigree with autosomal dominant intermediate Charcot-Marie-Tooth disease type E and nephropathy].
Fu J; Ma M; Pang M; Yang L; Li G; Song J; Zhang J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Sep; 36(9):918-921. PubMed ID: 31515790
[TBL] [Abstract][Full Text] [Related]
28. Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot-Marie-Tooth disease family.
Nam DE; Nam SH; Lee AJ; Hong YB; Choi BO; Chung KW
J Peripher Nerv Syst; 2018 Mar; 23(1):60-66. PubMed ID: 29341343
[TBL] [Abstract][Full Text] [Related]
29. Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease.
Grosse GM; Bauer C; Kopp B; Schrader C; Osmanovic A
BMC Med Genet; 2020 Mar; 21(1):45. PubMed ID: 32122354
[TBL] [Abstract][Full Text] [Related]
30. High diagnostic yield with algorithmic molecular approach on hereditary neuropathies.
Ceylan GG; Habiloğlu E; Çavdarlı B; Tuncez E; Bilen S; Köken ÖY; Gündüz CNS
Rev Assoc Med Bras (1992); 2023; 69(2):233-239. PubMed ID: 36790232
[TBL] [Abstract][Full Text] [Related]
31. Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family.
Stancanelli C; Fabrizi GM; Ferrarini M; Cavallaro T; Taioli F; Di Leo R; Russo M; Gentile L; Toscano A; Vita G; Mazzeo A
Neurol Sci; 2015 Jun; 36(6):1003-6. PubMed ID: 25547330
[TBL] [Abstract][Full Text] [Related]
32. Charcot-Marie-Tooth disease and related inherited neuropathies.
Murakami T; Garcia CA; Reiter LT; Lupski JR
Medicine (Baltimore); 1996 Sep; 75(5):233-50. PubMed ID: 8862346
[TBL] [Abstract][Full Text] [Related]
33. Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy.
Lee AJ; Nam DE; Choi YJ; Nam SH; Choi BO; Chung KW
Genes Genomics; 2020 Jun; 42(6):663-672. PubMed ID: 32314272
[TBL] [Abstract][Full Text] [Related]
34. Linkage studies in Charcot-Marie-Tooth disease type 2: evidence that CMT types 1 and 2 are distinct genetic entities.
Loprest LJ; Pericak-Vance MA; Stajich J; Gaskell PC; Lucas AM; Lennon F; Yamaoka LH; Roses AD; Vance JM
Neurology; 1992 Mar; 42(3 Pt 1):597-601. PubMed ID: 1549221
[TBL] [Abstract][Full Text] [Related]
35. Charcot-Marie-Tooth disease subtypes and genetic testing strategies.
Saporta AS; Sottile SL; Miller LJ; Feely SM; Siskind CE; Shy ME
Ann Neurol; 2011 Jan; 69(1):22-33. PubMed ID: 21280073
[TBL] [Abstract][Full Text] [Related]
36. Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.
Tang B; Liu X; Zhao G; Luo W; Xia K; Pan Q; Cai F; Hu Z; Zhang C; Chen B; Zhang F; Shen L; Zhang R; Jiang H
Arch Neurol; 2005 Aug; 62(8):1201-7. PubMed ID: 16087758
[TBL] [Abstract][Full Text] [Related]
37. Charcot-Marie-Tooth disease with pyramidal features due to a new mutation of EGR2 gene.
Fusco C; Spagnoli C; Salerno GG; Pavlidis E; Frattini D; Pisani F; Bassi MT
Acta Biomed; 2019 Jan; 90(1):104-107. PubMed ID: 30889162
[TBL] [Abstract][Full Text] [Related]
38. A charcot-marie-tooth type 1B kindred associated with hemifacial spasm and trigeminal neuralgia.
Caress JB; Lewis JA; Pinyan CW; Lawson VH
Muscle Nerve; 2019 Jul; 60(1):62-66. PubMed ID: 30920665
[TBL] [Abstract][Full Text] [Related]
39. [Analysis of
Qin L; Yang C; Lü T; Li L; Zong D; Wu Y
Nan Fang Yi Ke Da Xue Xue Bao; 2019 Jan; 39(1):63-68. PubMed ID: 30692068
[TBL] [Abstract][Full Text] [Related]
40. Genetics of neuropathies.
Siskind CE; Shy ME
Semin Neurol; 2011 Nov; 31(5):494-505. PubMed ID: 22266887
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
