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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. Mannil M, et al. Among authors: young p. Neuromuscul Disord. 2014 Nov;24(11):1003-17. doi: 10.1016/j.nmd.2014.06.431. Epub 2014 Jun 19. Neuromuscul Disord. 2014. PMID: 25085517 Clinical Trial.
Ascorbic acid for the treatment of Charcot-Marie-Tooth disease.
Gess B, Baets J, De Jonghe P, Reilly MM, Pareyson D, Young P. Gess B, et al. Among authors: young p. Cochrane Database Syst Rev. 2015 Dec 11;2015(12):CD011952. doi: 10.1002/14651858.CD011952. Cochrane Database Syst Rev. 2015. PMID: 26662471 Free PMC article. Review.
Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A.
Fledrich R, Mannil M, Leha A, Ehbrecht C, Solari A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Schnizer TJ, Prukop T, Garcia-Angarita N, Czesnik D, Haberlová J, Mazanec R, Paulus W, Beissbarth T, Walter MC, Triaal C, Hogrel JY, Dubourg O, Schenone A, Baets J, De Jonghe P, Shy ME, Horvath R, Pareyson D, Seeman P, Young P, Sereda MW. Fledrich R, et al. Among authors: young p. J Neurol Neurosurg Psychiatry. 2017 Nov;88(11):941-952. doi: 10.1136/jnnp-2017-315721. Epub 2017 Aug 31. J Neurol Neurosurg Psychiatry. 2017. PMID: 28860329 Free PMC article.
A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A.
Attarian S, Young P, Brannagan TH, Adams D, Van Damme P, Thomas FP, Casanovas C, Kafaie J, Tard C, Walter MC, Péréon Y, Walk D, Stino A, de Visser M, Verhamme C, Amato A, Carter G, Magy L, Statland JM, Felice K. Attarian S, et al. Among authors: young p. Orphanet J Rare Dis. 2021 Oct 16;16(1):433. doi: 10.1186/s13023-021-02040-8. Orphanet J Rare Dis. 2021. PMID: 34656144 Free PMC article. Clinical Trial.
Sleep disorders in Charcot-Marie-Tooth disease type 1.
Boentert M, Knop K, Schuhmacher C, Gess B, Okegwo A, Young P. Boentert M, et al. Among authors: young p. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):319-25. doi: 10.1136/jnnp-2013-305296. Epub 2013 May 23. J Neurol Neurosurg Psychiatry. 2014. PMID: 23704315
The causes of Charcot-Marie-Tooth disease.
Young P, Suter U. Young P, et al. Cell Mol Life Sci. 2003 Dec;60(12):2547-60. doi: 10.1007/s00018-003-3133-5. Cell Mol Life Sci. 2003. PMID: 14685682 Free PMC article. Review.
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
Strickland AV, Schabhüttl M, Offenbacher H, Synofzik M, Hauser NS, Brunner-Krainz M, Gruber-Sedlmayr U, Moore SA, Windhager R, Bender B, Harms M, Klebe S, Young P, Kennerson M, Garcia AS, Gonzalez MA, Züchner S, Schule R, Shy ME, Auer-Grumbach M. Strickland AV, et al. Among authors: young p. J Neurol. 2015 Sep;262(9):2124-34. doi: 10.1007/s00415-015-7727-2. Epub 2015 Jun 24. J Neurol. 2015. PMID: 26100331 Free PMC article.
3,582 results