1159 related articles for article (PubMed ID: 18812441)
21. [Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease].
Zhang RX; Tang BS; Zi XH; Luo W; Xia K; Pan Q; Long ZG; Hu ZM; Li XB
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Jun; 21(3):207-10. PubMed ID: 15192818
[TBL] [Abstract][Full Text] [Related]
22. Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.
Cassereau J; Chevrollier A; Gueguen N; Desquiret V; Verny C; Nicolas G; Dubas F; Amati-Bonneau P; Reynier P; Bonneau D; Procaccio V
Exp Neurol; 2011 Jan; 227(1):31-41. PubMed ID: 20849849
[TBL] [Abstract][Full Text] [Related]
23. Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
Miltenberger-Miltenyi G; Janecke AR; Wanschitz JV; Timmerman V; Windpassinger C; Auer-Grumbach M; Löscher WN
Arch Neurol; 2007 Jul; 64(7):966-70. PubMed ID: 17620486
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.
Pezzini I; Geroldi A; Capponi S; Gulli R; Schenone A; Grandis M; Doria-Lamba L; La Piana C; Cremonte M; Pisciotta C; Nolano M; Manganelli F; Santoro L; Mandich P; Bellone E
Neuromuscul Disord; 2016 Jan; 26(1):26-32. PubMed ID: 26525999
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Phrenic nerve involvement in Charcot-Marie-Tooth disease.
Abboud L; El SF; Takubo T; Byrd RP; Roy TM
Tenn Med; 2005 Oct; 98(10):495-7. PubMed ID: 16294569
[TBL] [Abstract][Full Text] [Related]
28. Disorders of pulmonary function, sleep, and the upper airway in Charcot-Marie-Tooth disease.
Aboussouan LS; Lewis RA; Shy ME
Lung; 2007; 185(1):1-7. PubMed ID: 17294338
[TBL] [Abstract][Full Text] [Related]
29. Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.
Moroni I; Morbin M; Milani M; Ciano C; Bugiani M; Pagliano E; Cavallaro T; Pareyson D; Taroni F
Neuromuscul Disord; 2009 Jul; 19(7):476-80. PubMed ID: 19500985
[TBL] [Abstract][Full Text] [Related]
30. [Respiratory disorders in type-1 hereditary motor and sensory neuropathy].
Akiba Y; Kimura T; Kitaoka T; Toyoshima E; Fujiuchi S; Osanai S; Nakano H; Ohsaki Y; Yahara O; Kikuchi K
Nihon Kyobu Shikkan Gakkai Zasshi; 1996 Aug; 34(8):850-5. PubMed ID: 8965393
[TBL] [Abstract][Full Text] [Related]
31. [A case of Charcot-Marie-Tooth disease (CMT) type 1 complicated by diabetes mellitus (DM) showing bilateral phrenic nerve palsy].
Takakura Y; Furuya H; Yamashita K; Murai H; Araki T; Kikuchi H; Ohyagi Y; Yamada T; Kira J
Rinsho Shinkeigaku; 2002 Apr; 42(4):320-2. PubMed ID: 12561089
[TBL] [Abstract][Full Text] [Related]
32. The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.
Crimella C; Tonelli A; Airoldi G; Baschirotto C; D'Angelo MG; Bonato S; Losito L; Trabacca A; Bresolin N; Bassi MT
J Med Genet; 2010 Oct; 47(10):712-6. PubMed ID: 20685671
[TBL] [Abstract][Full Text] [Related]
33. [Reinnervation of the posterior cricoarytenoid muscle by the phrenic nerve for bilateral vocal cord paralysis in humans].
Zheng H; Zhou S; Li Z; Chen S; Zhang S; Huang Y; Wen W; Shen X; Wu H; Zhou R; Cui Y; Geng L
Zhonghua Er Bi Yan Hou Ke Za Zhi; 2002 Jun; 37(3):210-4. PubMed ID: 12772326
[TBL] [Abstract][Full Text] [Related]
34. [Respiratory disease and diaphragm paralysis in Charcot-Marie-Tooth disease].
Pons Odena M; Piqueras Marimbaldo I; Colomer Oferil J; Segura Matute S; Palomeque Rico A
An Pediatr (Barc); 2010 Apr; 72(4):267-71. PubMed ID: 20138600
[TBL] [Abstract][Full Text] [Related]
35. A Sporadic Case of Charcot-Marie-Tooth Disease Type 2 with Left Vocal Fold Palsy due to Mitofusin 2 Mutation.
Kanemaru K; Ogawa G; Mochizuki H; Nakazato M; Shiomi K
Intern Med; 2019 Jul; 58(14):2091-2093. PubMed ID: 30996168
[TBL] [Abstract][Full Text] [Related]
36. A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations.
Vital A; Latour P; Sole G; Ferrer X; Rouanet M; Tison F; Vital C; Goizet C
Neuromuscul Disord; 2012 Aug; 22(8):735-41. PubMed ID: 22546700
[TBL] [Abstract][Full Text] [Related]
37. Vocal cord paresis and probable X-linked Charcot-Marie-Tooth disease with novel GJB1 mutation.
Li Q; Chen M; Liu K; Lin X; Chui D
Int J Neurosci; 2010 Nov; 120(11):731-4. PubMed ID: 20942588
[TBL] [Abstract][Full Text] [Related]
38. [A patient of Charcot-Marie-tooth disease with rigid spine and respiratory failure].
Takamure M; Nakamuro T; Sugie K; Suzumura A; Takayanagi T
Rinsho Shinkeigaku; 2000 May; 40(5):433-8. PubMed ID: 11002724
[TBL] [Abstract][Full Text] [Related]
39. Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical insights and phenotypic effects.
Manzoor U; Ali A; Ali SL; Abdelkarem O; Kanwal S; Alotaibi SS; Baazeem A; Baiduissenova A; Yktiyarov A; Hajar A; Olzhabay A
J Genet Eng Biotechnol; 2023 Nov; 21(1):119. PubMed ID: 37966693
[TBL] [Abstract][Full Text] [Related]
40. Evaluation of phrenic nerve and pulmonary function in hereditary motor and sensory neuropathy, type I.
Carter GT; Kilmer DD; Bonekat HW; Lieberman JS; Fowler WM
Muscle Nerve; 1992 Apr; 15(4):459-62. PubMed ID: 1565114
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
