Literature DB >> 20850975

168th ENMC International Workshop: outcome measures and clinical trials in Charcot-Marie-Tooth disease (CMT).

M M Reilly1, M E Shy, F Muntoni, D Pareyson.   

Abstract

Entities:  

Mesh：

Year:  2010        PMID： 20850975     DOI： 10.1016/j.nmd.2010.08.001

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  22 in total

1.  The Rare Diseases Clinical Research Network's organization and approach to observational research and health outcomes research.

Authors:  Jeffrey P Krischer; Rashmi Gopal-Srivastava; Stephen C Groft; David J Eckstein
Journal:  J Gen Intern Med       Date:  2014-08       Impact factor: 5.128

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

Authors:  Richard A Lewis; Michael P McDermott; David N Herrmann; Ahmet Hoke; Lora L Clawson; Carly Siskind; Shawna M E Feely; Lindsey J Miller; Richard J Barohn; Patricia Smith; Elizabeth Luebbe; Xingyao Wu; Michael E Shy
Journal:  JAMA Neurol       Date:  2013-08       Impact factor: 18.302

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

Authors:  Joshua Burns; Robert Ouvrier; Tim Estilow; Rosemary Shy; Matilde Laurá; Julie F Pallant; Monkol Lek; Francesco Muntoni; Mary M Reilly; Davide Pareyson; Gyula Acsadi; Michael E Shy; Richard S Finkel
Journal:  Ann Neurol       Date:  2012-05       Impact factor: 10.422

4.  Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy.

Authors:  Davide Pareyson; Pietro Fratta; Pierre-François Pradat; Gianni Sorarù; Josef Finsterer; John Vissing; Manu E Jokela; Bjarne Udd; Albert C Ludolph; Anna Sagnelli; Patrick Weydt
Journal:  J Mol Neurosci       Date:  2016-01-07       Impact factor: 3.444

5.  A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.

Authors:  Vera Fridman; Stefan Sillau; Gyula Acsadi; Chelsea Bacon; Kimberly Dooley; Joshua Burns; John Day; Shawna Feely; Richard S Finkel; Tiffany Grider; Laurie Gutmann; David N Herrmann; Callyn A Kirk; Sarrah A Knause; Matilde Laurá; Richard A Lewis; Jun Li; Thomas E Lloyd; Isabella Moroni; Francesco Muntoni; Emanuela Pagliano; Chiara Pisciotta; Giuseppe Piscosquito; Sindhu Ramchandren; Mario Saporta; Reza Sadjadi; Rosemary R Shy; Carly E Siskind; Charlotte J Sumner; David Walk; Janel Wilcox; Sabrina W Yum; Stephan Züchner; Steven S Scherer; Davide Pareyson; Mary M Reilly; Michael E Shy
Journal:  Neurology       Date:  2020-02-11       Impact factor: 9.910

6.  Curcumin facilitates a transitory cellular stress response in Trembler-J mice.

Authors:  Yuji Okamoto; Davut Pehlivan; Wojciech Wiszniewski; Christine R Beck; G Jackson Snipes; James R Lupski; Mehrdad Khajavi
Journal:  Hum Mol Genet       Date:  2013-07-11       Impact factor: 6.150

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

Authors:  Emanuela Pagliano; Isabella Moroni; Giovanni Baranello; Anita Magro; Alessia Marchi; Sara Bulgheroni; Maurizio Ferrarin; Davide Pareyson
Journal:  J Peripher Nerv Syst       Date:  2011-09       Impact factor: 3.494

Review 8.  Disturbed mitochondrial dynamics and neurodegenerative disorders.

Authors:  Florence Burté; Valerio Carelli; Patrick F Chinnery; Patrick Yu-Wai-Man
Journal:  Nat Rev Neurol       Date:  2014-12-09       Impact factor: 42.937

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

Authors:  Reza Sadjadi; Mary M Reilly; Michael E Shy; Davide Pareyson; Matilde Laura; Sinead Murphy; Shawna M E Feely; Tiffany Grider; Chelsea Bacon; Giuseppe Piscosquito; Daniela Calabrese; Ted M Burns
Journal:  J Peripher Nerv Syst       Date:  2014-09       Impact factor: 3.494

10.  Characterization of genotype-phenotype correlation with MORC2 mutated Axonal Charcot-Marie-Tooth disease in a cohort of Chinese patients.

Authors:  Xiaohui Duan; Xiaoxuan Liu; Guochun Wang; Weihong Gu; Min Xu; Ying Hao; Mingrui Dong; Qing Sun; Shaojie Sun; Yuanyuan Chen; Wei Wang; Jing Li; Yuting Zhang; Zhenhua Cao; Dongsheng Fan; Renbin Wang; Yuwei Da
Journal:  Orphanet J Rare Dis       Date:  2021-05-31       Impact factor: 4.123
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