353 related articles for article (PubMed ID: 22933740)
1. Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.
Pitceathly RD; Murphy SM; Cottenie E; Chalasani A; Sweeney MG; Woodward C; Mudanohwo EE; Hargreaves I; Heales S; Land J; Holton JL; Houlden H; Blake J; Champion M; Flinter F; Robb SA; Page R; Rose M; Palace J; Crowe C; Longman C; Lunn MP; Rahman S; Reilly MM; Hanna MG
Neurology; 2012 Sep; 79(11):1145-54. PubMed ID: 22933740
[TBL] [Abstract][Full Text] [Related]
2. Genetic epidemiology of Charcot-Marie-Tooth disease.
Braathen GJ
Acta Neurol Scand Suppl; 2012; (193):iv-22. PubMed ID: 23106488
[TBL] [Abstract][Full Text] [Related]
3. Episodic weakness and Charcot-marie-tooth disease due to a mitochondrial MT-ATP6 mutation.
Panosyan FB; Tawil R; Herrmann DN
Muscle Nerve; 2017 Jun; 55(6):922-927. PubMed ID: 27783406
[TBL] [Abstract][Full Text] [Related]
4. Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience.
Luigetti M; Fabrizi GM; Bisogni G; Romano A; Taioli F; Ferrarini M; Bernardo D; Rossini PM; Sabatelli M
Clin Neurol Neurosurg; 2016 May; 144():67-71. PubMed ID: 26989944
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.
Auré K; Dubourg O; Jardel C; Clarysse L; Sternberg D; Fournier E; Laforêt P; Streichenberger N; Petiot P; Gervais-Bernard H; Vial C; Bedat-Millet AL; Drouin-Garraud V; Bouillaud F; Vandier C; Fontaine B; Lombès A
Neurology; 2013 Nov; 81(21):1810-8. PubMed ID: 24153443
[TBL] [Abstract][Full Text] [Related]
7. HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.
Capponi S; Geroldi A; Fossa P; Grandis M; Ciotti P; Gulli R; Schenone A; Mandich P; Bellone E
J Peripher Nerv Syst; 2011 Dec; 16(4):287-94. PubMed ID: 22176143
[TBL] [Abstract][Full Text] [Related]
8. MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.
Braathen GJ; Sand JC; Lobato A; Høyer H; Russell MB
BMC Med Genet; 2010 Mar; 11():48. PubMed ID: 20350294
[TBL] [Abstract][Full Text] [Related]
9. Genetic heterogeneity of motor neuropathies.
Bansagi B; Griffin H; Whittaker RG; Antoniadi T; Evangelista T; Miller J; Greenslade M; Forester N; Duff J; Bradshaw A; Kleinle S; Boczonadi V; Steele H; Ramesh V; Franko E; Pyle A; Lochmüller H; Chinnery PF; Horvath R
Neurology; 2017 Mar; 88(13):1226-1234. PubMed ID: 28251916
[TBL] [Abstract][Full Text] [Related]
10. Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.
Bansagi B; Antoniadi T; Burton-Jones S; Murphy SM; McHugh J; Alexander M; Wells R; Davies J; Hilton-Jones D; Lochmüller H; Chinnery P; Horvath R
J Neurol; 2015 Aug; 262(8):1899-908. PubMed ID: 26032230
[TBL] [Abstract][Full Text] [Related]
11. A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy.
Bardakjian T; Scherer SS
J Neuromuscul Dis; 2019; 6(3):385-387. PubMed ID: 31424416
[No Abstract] [Full Text] [Related]
12. Charcot-Marie-Tooth hereditary neuropathy due to a mitochondrial ATP6 mutation.
Synofzik M; Schicks J; Wilhelm C; Bornemann A; Schöls L
Eur J Neurol; 2012 Oct; 19(10):e114-6. PubMed ID: 22971232
[No Abstract] [Full Text] [Related]
13. A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism.
Kytövuori L; Lipponen J; Rusanen H; Komulainen T; Martikainen MH; Majamaa K
J Neurol; 2016 Nov; 263(11):2188-2195. PubMed ID: 27502083
[TBL] [Abstract][Full Text] [Related]
14. Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
Rohkamm B; Reilly MM; Lochmüller H; Schlotter-Weigel B; Barisic N; Schöls L; Nicholson G; Pareyson D; Laurà M; Janecke AR; Miltenberger-Miltenyi G; John E; Fischer C; Grill F; Wakeling W; Davis M; Pieber TR; Auer-Grumbach M
J Neurol Sci; 2007 Dec; 263(1-2):100-6. PubMed ID: 17663003
[TBL] [Abstract][Full Text] [Related]
15. HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.
Gess B; Auer-Grumbach M; Schirmacher A; Strom T; Zitzelsberger M; Rudnik-Schöneborn S; Röhr D; Halfter H; Young P; Senderek J
Neurology; 2014 Nov; 83(19):1726-32. PubMed ID: 25274842
[TBL] [Abstract][Full Text] [Related]
16. Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.
Taioli F; Cabrini I; Cavallaro T; Acler M; Fabrizi GM
Brain; 2011 Feb; 134(Pt 2):608-17. PubMed ID: 21252112
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutation.
Su TH; Lee NC; Wu CS; Peng SS; Fan PC
J Formos Med Assoc; 2022 Nov; 121(11):2345-2350. PubMed ID: 34953645
[TBL] [Abstract][Full Text] [Related]
19. A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family.
Fay A; Garcia Y; Margeta M; Maharjan S; Jürgensen C; Briceño J; Garcia M; Yin S; Bassaganyas L; McMahon T; Hou YM; Fu YH; Ptáček LJ
Ann Neurol; 2020 Oct; 88(4):830-842. PubMed ID: 32715519
[TBL] [Abstract][Full Text] [Related]
20. Mitochondrial dynamics and inherited peripheral nerve diseases.
Pareyson D; Saveri P; Sagnelli A; Piscosquito G
Neurosci Lett; 2015 Jun; 596():66-77. PubMed ID: 25847151
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
