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Items: 1 to 20 of 160

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 11;79(11):1145-54. doi: 10.1212/WNL.0b013e3182698d8d. Epub 2012 Aug 29.

2.

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ.

Acta Neurol Scand Suppl. 2012;(193):iv-22. doi: 10.1111/ane.12013.

PMID:
23106488
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. doi: 10.1002/mus.25453. Epub 2017 Feb 12.

PMID:
27783406
4.

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 19;81(21):1810-8. doi: 10.1212/01.wnl.0000436067.43384.0b. Epub 2013 Oct 23.

PMID:
24153443
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. doi: 10.1136/jnnp.2009.181636. Epub 2010 Jul 26.

PMID:
20660910
6.

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. doi: 10.1016/j.clineuro.2016.03.007. Epub 2016 Mar 9.

PMID:
26989944
7.

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 29;11:48. doi: 10.1186/1471-2350-11-48.

8.

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. doi: 10.1111/j.1529-8027.2011.00361.x.

PMID:
22176143
9.

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. doi: 10.1007/s00415-015-7778-4. Epub 2015 Jun 2.

10.

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 28;88(13):1226-1234. doi: 10.1212/WNL.0000000000003772. Epub 2017 Mar 1.

11.

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. Epub 2016 Aug 8.

PMID:
27502083
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. doi: 10.1111/j.1468-1331.2012.03812.x. No abstract available.

PMID:
22971232
13.

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 15;263(1-2):100-6. Epub 2007 Jul 30.

14.

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. doi: 10.1093/brain/awq374. Epub 2011 Jan 19.

PMID:
21252112
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 4;83(19):1726-32. doi: 10.1212/WNL.0000000000000966. Epub 2014 Oct 1.

PMID:
25274842
16.

Mitochondrial dynamics and inherited peripheral nerve diseases.

Pareyson D, Saveri P, Sagnelli A, Piscosquito G.

Neurosci Lett. 2015 Jun 2;596:66-77. doi: 10.1016/j.neulet.2015.04.001. Epub 2015 Apr 3. Review.

PMID:
25847151
17.

Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.

Craig K, Elliott HR, Keers SM, Lambert C, Pyle A, Graves TD, Woodward C, Sweeney MG, Davis MB, Hanna MG, Chinnery PF.

J Med Genet. 2007 Dec;44(12):797-9.

18.

A novel p.Gln175X [corrected] premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2.

Rossor AM, Davidson GL, Blake J, Polke JM, Murphy SM, Houlden H, Innes A, Kalmar B, Greensmith L, Reilly MM.

J Peripher Nerv Syst. 2012 Jun;17(2):201-5. doi: 10.1111/j.1529-8027.2012.00400.x. Erratum in: J Peripher Nerv Syst. 2014 Sep;19(3):250-89.

PMID:
22734906
19.

[Molecular genetics of inherited neuropathies].

Takashima H.

Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Review. Japanese.

PMID:
16541790
20.

Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.

Fawcett KA, Murphy SM, Polke JM, Wray S, Burchell VS, Manji H, Quinlivan RM, Zdebik AA, Reilly MM, Houlden H.

J Neurol Neurosurg Psychiatry. 2012 Dec;83(12):1204-9. doi: 10.1136/jnnp-2012-303055. Epub 2012 Jul 31.

PMID:
22851605

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