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Items: 1 to 20 of 129

1.

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.

2.

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
3.

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
4.

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
5.

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.

6.

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
7.

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
8.

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.

9.

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.

10.

Interventions for fatigue in peripheral neuropathy.

White CM, van Doorn PA, Garssen MP, Stockley RC.

Cochrane Database Syst Rev. 2014 Dec 18;(12):CD008146. doi: 10.1002/14651858.CD008146.pub2. Review.

PMID:
25519471
11.

Nerve conduction velocity in CMT1A: what else can we tell?

Manganelli F, Pisciotta C, Reilly MM, Tozza S, Schenone A, Fabrizi GM, Cavallaro T, Vita G, Padua L, Gemignani F, Laurà M, Hughes RA, Solari A, Pareyson D, Santoro L; CMT-TRIAAL and CMT-TRAUK Group.

Eur J Neurol. 2016 Oct;23(10):1566-71. doi: 10.1111/ene.13079. Epub 2016 Jul 14.

12.

Poor tolerability of high dose ascorbic acid in a population of genetically confirmed adult Charcot-Marie-Tooth 1A patients.

Toth C.

Acta Neurol Scand. 2009 Aug;120(2):134-8. doi: 10.1111/j.1600-0404.2008.01134.x. Epub 2008 Dec 22.

PMID:
19154534
13.

Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease.

Passage E, Norreel JC, Noack-Fraissignes P, Sanguedolce V, Pizant J, Thirion X, Robaglia-Schlupp A, Pellissier JF, Fontés M.

Nat Med. 2004 Apr;10(4):396-401. Epub 2004 Mar 21.

PMID:
15034573
14.

A meta-analysis of randomized double-blind clinical trials in CMT1A to assess the change from baseline in CMTNS and ONLS scales after one year of treatment.

Mandel J, Bertrand V, Lehert P, Attarian S, Magy L, Micallef J, Chumakov I, Scart-Grès C, Guedj M, Cohen D.

Orphanet J Rare Dis. 2015 Jun 13;10:74. doi: 10.1186/s13023-015-0293-y.

15.

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
16.

[Ascorbic Acid and Charcot-Marie-Tooth Disease].

Noto Y.

Brain Nerve. 2015 Oct;67(10):1241-6. doi: 10.11477/mf.1416200289. Review. Japanese.

PMID:
26450076
17.

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
18.

Eltrombopag for children with chronic immune thrombocytopenia (PETIT2): a randomised, multicentre, placebo-controlled trial.

Grainger JD, Locatelli F, Chotsampancharoen T, Donyush E, Pongtanakul B, Komvilaisak P, Sosothikul D, Drelichman G, Sirachainan N, Holzhauer S, Lebedev V, Lemons R, Pospisilova D, Ramenghi U, Bussel JB, Bakshi KK, Iyengar M, Chan GW, Chagin KD, Theodore D, Marcello LM, Bailey CK.

Lancet. 2015 Oct 24;386(10004):1649-58. doi: 10.1016/S0140-6736(15)61107-2. Epub 2015 Jul 28. Erratum in: Lancet. 2015 Oct 24;386(10004):1630.

PMID:
26231455
19.

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
20.

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.

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