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Items: 1 to 20 of 165

1.

Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients.

Mannil M, Solari A, Leha A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Walter MC, Rautenstrauss B, Schnizer TJ, Schenone A, Seeman P, Kadian C, Schreiber O, Angarita NG, Fabrizi GM, Gemignani F, Padua L, Santoro L, Quattrone A, Vita G, Calabrese D; CMT-TRIAAL/CMT-TRAUK Group, Young P, Laurà M, Haberlová J, Mazanec R, Paulus W, Beissbarth T, Shy ME, Reilly MM, Pareyson D, Sereda MW.

Neuromuscul Disord. 2014 Nov;24(11):1003-17. doi: 10.1016/j.nmd.2014.06.431. Epub 2014 Jun 19.

PMID:
25085517
2.

Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial.

Pareyson D, Reilly MM, Schenone A, Fabrizi GM, Cavallaro T, Santoro L, Vita G, Quattrone A, Padua L, Gemignani F, Visioli F, Laurà M, Radice D, Calabrese D, Hughes RA, Solari A; CMT-TRIAAL; CMT-TRAUK groups.

Lancet Neurol. 2011 Apr;10(4):320-8. doi: 10.1016/S1474-4422(11)70025-4.

3.

High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial.

Lewis RA, McDermott MP, Herrmann DN, Hoke A, Clawson LL, Siskind C, Feely SM, Miller LJ, Barohn RJ, Smith P, Luebbe E, Wu X, Shy ME; Muscle Study Group.

JAMA Neurol. 2013 Aug;70(8):981-7. doi: 10.1001/jamaneurol.2013.3178.

4.

Ascorbic acid for the treatment of Charcot-Marie-Tooth disease.

Gess B, Baets J, De Jonghe P, Reilly MM, Pareyson D, Young P.

Cochrane Database Syst Rev. 2015 Dec 11;(12):CD011952. doi: 10.1002/14651858.CD011952. Review.

PMID:
26662471
5.

Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial.

Micallef J, Attarian S, Dubourg O, Gonnaud PM, Hogrel JY, Stojkovic T, Bernard R, Jouve E, Pitel S, Vacherot F, Remec JF, Jomir L, Azabou E, Al-Moussawi M, Lefebvre MN, Attolini L, Yaici S, Tanesse D, Fontes M, Pouget J, Blin O.

Lancet Neurol. 2009 Dec;8(12):1103-10. doi: 10.1016/S1474-4422(09)70260-1. Epub 2009 Oct 7.

PMID:
19818690
6.

Neuropathy progression in Charcot-Marie-Tooth disease type 1A.

Shy ME, Chen L, Swan ER, Taube R, Krajewski KM, Herrmann D, Lewis RA, McDermott MP.

Neurology. 2008 Jan 29;70(5):378-83. doi: 10.1212/01.wnl.0000297553.36441.ce.

PMID:
18227419
7.

Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial.

Verhamme C, de Haan RJ, Vermeulen M, Baas F, de Visser M, van Schaik IN.

BMC Med. 2009 Nov 12;7:70. doi: 10.1186/1741-7015-7-70.

8.

A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): the study protocol [EudraCT no.: 2006-000032-27].

Pareyson D, Schenone A, Fabrizi GM, Santoro L, Padua L, Quattrone A, Vita G, Gemignani F, Visioli F, Solari A; CMT-TRIAAL Group.

Pharmacol Res. 2006 Dec;54(6):436-41. Epub 2006 Sep 9.

PMID:
17029975
9.

Utility of Charcot-Marie-Tooth Neuropathy Score in children with type 1A disease.

Haberlová J, Seeman P.

Pediatr Neurol. 2010 Dec;43(6):407-10. doi: 10.1016/j.pediatrneurol.2010.06.004.

PMID:
21093731
10.

Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial.

Burns J, Ouvrier RA, Yiu EM, Joseph PD, Kornberg AJ, Fahey MC, Ryan MM.

Lancet Neurol. 2009 Jun;8(6):537-44. doi: 10.1016/S1474-4422(09)70108-5. Epub 2009 May 6.

PMID:
19427269
11.

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.

Murphy SM, Herrmann DN, McDermott MP, Scherer SS, Shy ME, Reilly MM, Pareyson D.

J Peripher Nerv Syst. 2011 Sep;16(3):191-8. doi: 10.1111/j.1529-8027.2011.00350.x.

12.

Responsiveness of clinical outcome measures in Charcot-Marie-Tooth disease.

Piscosquito G, Reilly MM, Schenone A, Fabrizi GM, Cavallaro T, Santoro L, Manganelli F, Vita G, Quattrone A, Padua L, Gemignani F, Visioli F, Laurà M, Calabrese D, Hughes RA, Radice D, Solari A, Pareyson D; CMT-TRIAAL Group; CMT-TRAUK Group.

Eur J Neurol. 2015 Dec;22(12):1556-63. doi: 10.1111/ene.12783. Epub 2015 Jul 31.

PMID:
26227902
13.

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.

Cornett KM, Menezes MP, Bray P, Halaki M, Shy RR, Yum SW, Estilow T, Moroni I, Foscan M, Pagliano E, Pareyson D, Laurá M, Bhandari T, Muntoni F, Reilly MM, Finkel RS, Sowden J, Eichinger KJ, Herrmann DN, Shy ME, Burns J; Inherited Neuropathies Consortium.

JAMA Neurol. 2016 Jun 1;73(6):645-51. doi: 10.1001/jamaneurol.2016.0171.

14.

Anterior tibialis CMAP amplitude correlations with impairment in CMT1A.

Komyathy K, Neal S, Feely S, Miller LJ, Lewis RA, Trigge G, Siskind CE, Shy ME, Ramchandren S.

Muscle Nerve. 2013 Apr;47(4):493-6. doi: 10.1002/mus.23614. Epub 2013 Mar 3.

15.

Charcot-Marie-Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles.

Gallardo E, García A, Combarros O, Berciano J.

Brain. 2006 Feb;129(Pt 2):426-37. Epub 2005 Nov 29.

PMID:
16317020
16.

Reliability of clinical outcome measures in Charcot-Marie-Tooth disease.

Solari A, Laurà M, Salsano E, Radice D, Pareyson D; CMT-TRIAAL Study Group.

Neuromuscul Disord. 2008 Jan;18(1):19-26. Epub 2007 Oct 26.

PMID:
17964785
17.

A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A Patients.

Wang W, Guedj M, Bertrand V, Foucquier J, Jouve E, Commenges D, Proust-Lima C, Murphy NP, Blin O, Magy L, Cohen D, Attarian S.

PLoS One. 2017 Jan 17;12(1):e0169878. doi: 10.1371/journal.pone.0169878. eCollection 2017.

18.

An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A.

Attarian S, Vallat JM, Magy L, Funalot B, Gonnaud PM, Lacour A, Péréon Y, Dubourg O, Pouget J, Micallef J, Franques J, Lefebvre MN, Ghorab K, Al-Moussawi M, Tiffreau V, Preudhomme M, Magot A, Leclair-Visonneau L, Stojkovic T, Bossi L, Lehert P, Gilbert W, Bertrand V, Mandel J, Milet A, Hajj R, Boudiaf L, Scart-Grès C, Nabirotchkin S, Guedj M, Chumakov I, Cohen D.

Orphanet J Rare Dis. 2014 Dec 18;9:199. doi: 10.1186/s13023-014-0199-0. Erratum in: Orphanet J Rare Dis. 2016;11(1):92.

19.

Diabetes mellitus exacerbates motor and sensory impairment in CMT1A.

Sheth S, Francies K, Siskind CE, Feely SM, Lewis RA, Shy ME.

J Peripher Nerv Syst. 2008 Dec;13(4):299-304. doi: 10.1111/j.1529-8027.2008.00196.x.

PMID:
19192070
20.

Increased severity over generations of Charcot-Marie-Tooth disease type 1A.

Steiner I, Gotkine M, Steiner-Birmanns B, Biran I, Silverstein S, Abeliovich D, Argov Z, Wirguin I.

J Neurol. 2008 Jun;255(6):813-9. doi: 10.1007/s00415-008-0693-1. Epub 2008 Apr 30.

PMID:
18438698

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