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Items: 1 to 20 of 89

1.

Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease.

Burns J, Menezes M, Finkel RS, Estilow T, Moroni I, Pagliano E, Laurá M, Muntoni F, Herrmann DN, Eichinger K, Shy R, Pareyson D, Reilly MM, Shy ME.

J Peripher Nerv Syst. 2013 Jun;18(2):177-80. doi: 10.1111/jns5.12024.

2.

Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability.

Burns J, Ouvrier R, Estilow T, Shy R, Laurá M, Pallant JF, Lek M, Muntoni F, Reilly MM, Pareyson D, Acsadi G, Shy ME, Finkel RS.

Ann Neurol. 2012 May;71(5):642-52. doi: 10.1002/ana.23572.

3.

Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis.

Sadjadi R, Reilly MM, Shy ME, Pareyson D, Laura M, Murphy S, Feely SM, Grider T, Bacon C, Piscosquito G, Calabrese D, Burns TM.

J Peripher Nerv Syst. 2014 Sep;19(3):192-6. doi: 10.1111/jns.12084.

4.

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.

PMID:
27043305
5.

Outcome measures for Charcot-Marie-Tooth disease: clinical and neurofunctional assessment in children.

Pagliano E, Moroni I, Baranello G, Magro A, Marchi A, Bulgheroni S, Ferrarin M, Pareyson D.

J Peripher Nerv Syst. 2011 Sep;16(3):237-42. doi: 10.1111/j.1529-8027.2011.00357.x.

6.

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ.

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

PMID:
23106488
7.

Pain assessment in Charcot-Marie-Tooth (CMT) disease.

Ribiere C, Bernardin M, Sacconi S, Delmont E, Fournier-Mehouas M, Rauscent H, Benchortane M, Staccini P, Lantéri-Minet M, Desnuelle C.

Ann Phys Rehabil Med. 2012 Apr;55(3):160-73. doi: 10.1016/j.rehab.2012.02.005. English, French.

8.

Sleep disorders in Charcot-Marie-Tooth disease type 1.

Boentert M, Knop K, Schuhmacher C, Gess B, Okegwo A, Young P.

J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):319-25. doi: 10.1136/jnnp-2013-305296.

PMID:
23704315
9.

Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.

Chung KW, Kim SB, Park KD, Choi KG, Lee JH, Eun HW, Suh JS, Hwang JH, Kim WK, Seo BC, Kim SH, Son IH, Kim SM, Sunwoo IN, Choi BO.

Brain. 2006 Aug;129(Pt 8):2103-18.

PMID:
16835246
10.

Variables influencing quality of life and disability in Charcot Marie Tooth (CMT) patients: Italian multicentre study.

Padua L, Aprile I, Cavallaro T, Commodari I, La Torre G, Pareyson D, Quattrone A, Rizzuto N, Vita G, Tonali P, Schenone A; Italian CMT QoL Study Group..

Neurol Sci. 2006 Dec;27(6):417-23.

PMID:
17205227
11.

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.

PMID:
25085517
12.

Reliability and validity of the CMT neuropathy score as a measure of disability.

Shy ME, Blake J, Krajewski K, Fuerst DR, Laura M, Hahn AF, Li J, Lewis RA, Reilly M.

Neurology. 2005 Apr 12;64(7):1209-14.

PMID:
15824348
13.

Sexual functioning in women with mild and severe symptoms of Charcot-Marie-Tooth disease.

Gargiulo P, Vinci P, Navarro-Cremades F, Rellini AH.

J Sex Med. 2013 Jul;10(7):1800-6. doi: 10.1111/jsm.12126.

PMID:
23534937
14.

Effect of pain in pediatric inherited neuropathies.

Ramchandren S, Jaiswal M, Feldman E, Shy M.

Neurology. 2014 Mar 4;82(9):793-7. doi: 10.1212/WNL.0000000000000173.

15.

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
16.

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
17.

Prospective study of muscle cramps in Charcot-Marie-tooth disease.

Johnson NE, Sowden J, Dilek N, Eichinger K, Burns J, Mcdermott MP, Shy ME, Herrmann DN.

Muscle Nerve. 2015 Apr;51(4):485-8. doi: 10.1002/mus.24333.

18.

Outcome measures and rehabilitation treatment in patients affected by Charcot-Marie-Tooth neuropathy: a pilot study.

Maggi G, Monti Bragadin M, Padua L, Fiorina E, Bellone E, Grandis M, Reni L, Bennicelli A, Grosso M, Saporiti R, Scorsone D, Zuccarino R, Crimi E, Schenone A.

Am J Phys Med Rehabil. 2011 Aug;90(8):628-37. doi: 10.1097/PHM.0b013e31821f6e32.

PMID:
21681064
19.

Proximal nerve magnetization transfer MRI relates to disability in Charcot-Marie-Tooth diseases.

Dortch RD, Dethrage LM, Gore JC, Smith SA, Li J.

Neurology. 2014 Oct 21;83(17):1545-53. doi: 10.1212/WNL.0000000000000919.

20.

Defining disability: development and validation of a mobility-Disability Severity Index (mDSI) in Charcot-Marie-tooth disease.

Ramchandren S, Shy M, Feldman E, Carlos R, Siskind C.

J Neurol Neurosurg Psychiatry. 2015 Jun;86(6):635-9. doi: 10.1136/jnnp-2013-307390.

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