Pesquisa | BVS Odontologia

1.

Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.

Fridman, Vera; Sillau, Stefan; Bockhorst, Jacob; Smith, Kaitlin; Moroni, Isabella; Pagliano, Emanuela; Pisciotta, Chiara; Piscosquito, Guiseppe; Laurá, Matilde; Muntoni, Francesco; Bacon, Chelsea; Feely, Shawna; Grider, Tiffany; Gutmann, Laurie; Shy, Rosemary; Wilcox, Janel; Herrmann, David N; Li, Jun; Ramchandren, Sindhu; Sumner, Charlotte J; Lloyd, Thomas E; Day, John; Siskind, Carly E; Yum, Sabrina W; Sadjadi, Reza; Finkel, Richard S; Scherer, Steven S; Pareyson, Davide; Reilly, Mary M; Shy, Michael E.

Ann Neurol ; 93(3): 563-576, 2023 03.

Artigo em Inglês | MEDLINE | ID: mdl-36203352

2.

Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.

Rehbein, Tyler; Wu, Tong Tong; Treidler, Simona; Pareyson, Davide; Lewis, Richard; Yum, Sabrina W; McCray, Brett A; Ramchandren, Sindhu; Burns, Joshua; Li, Jun; Finkel, Richard S; Scherer, Steven S; Zuchner, Stephan; Shy, Michael E; Reilly, Mary M; Herrmann, David N.

Brain ; 146(9): 3826-3835, 2023 09 01.

Artigo em Inglês | MEDLINE | ID: mdl-36947133

3.

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

Record, Christopher J; Skorupinska, Mariola; Laura, Matilde; Rossor, Alexander M; Pareyson, Davide; Pisciotta, Chiara; Feely, Shawna M E; Lloyd, Thomas E; Horvath, Rita; Sadjadi, Reza; Herrmann, David N; Li, Jun; Walk, David; Yum, Sabrina W; Lewis, Richard A; Day, John; Burns, Joshua; Finkel, Richard S; Saporta, Mario A; Ramchandren, Sindhu; Weiss, Michael D; Acsadi, Gyula; Fridman, Vera; Muntoni, Francesco; Poh, Roy; Polke, James M; Zuchner, Stephan; Shy, Michael E; Scherer, Steven S; Reilly, Mary M.

Brain ; 146(10): 4336-4349, 2023 10 03.

Artigo em Inglês | MEDLINE | ID: mdl-37284795

4.

Validation of the parent-proxy pediatric Charcot-Marie-Tooth disease quality of life outcome measure.

Wu, Tong Tong; Finkel, Richard S; Siskind, Carly E; Feely, Shawna M E; Burns, Joshua; Reilly, Mary M; Muntoni, Francesco; Estilow, Timothy; Shy, Michael E; Ramchandren, Sindhu.

J Peripher Nerv Syst ; 28(2): 237-251, 2023 06.

Artigo em Inglês | MEDLINE | ID: mdl-36748295

5.

Validation of the parent-proxy version of the pediatric Charcot-Marie-Tooth disease quality of life instrument for children aged 0-7 years.

Wu, Tong Tong; Finkel, Richard S; Siskind, Carly E; Feely, Shawna M E; Burns, Joshua; Reilly, Mary M; Muntoni, Francesco; Milev, Evelin; Estilow, Timothy; Shy, Michael E; Ramchandren, Sindhu.

J Peripher Nerv Syst ; 28(3): 382-389, 2023 09.

Artigo em Inglês | MEDLINE | ID: mdl-37166413

6.

Development and Validation of the Pediatric Charcot-Marie-Tooth Disease Quality of Life Outcome Measure.

Ramchandren, Sindhu; Wu, Tong Tong; Finkel, Richard S; Siskind, Carly E; Feely, Shawna M E; Burns, Joshua; Reilly, Mary M; Estilow, Timothy; Shy, Michael E.

Ann Neurol ; 89(2): 369-379, 2021 02.

Artigo em Inglês | MEDLINE | ID: mdl-33222249

7.

Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.

Yiu, Eppie M; Bray, Paula; Baets, Jonathan; Baker, Steven K; Barisic, Nina; de Valle, Katy; Estilow, Timothy; Farrar, Michelle A; Finkel, Richard S; Haberlová, Jana; Kennedy, Rachel A; Moroni, Isabella; Nicholson, Garth A; Ramchandren, Sindhu; Reilly, Mary M; Rose, Kristy; Shy, Michael E; Siskind, Carly E; Yum, Sabrina W; Menezes, Manoj P; Ryan, Monique M; Burns, Joshua.

J Neurol Neurosurg Psychiatry ; 93(5): 530-538, 2022 05.

Artigo em Inglês | MEDLINE | ID: mdl-35140138

8.

Validation of the Italian version of the pediatric CMT quality of life outcome measure.

Moroni, Isabella; Danti, Federica Rachele; Pareyson, Davide; Pagliano, Emanuela; Piscosquito, Giuseppe; Foscan, Maria; Marchi, Alessia; Ardissone, Anna; Genitrini, Silvia; Wu, Tong Tong; Shy, Michael E; Ramchandren, Sindhu.

J Peripher Nerv Syst ; 27(2): 127-130, 2022 06.

Artigo em Inglês | MEDLINE | ID: mdl-35416371

9.

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.

Pipis, Menelaos; Feely, Shawna M E; Polke, James M; Skorupinska, Mariola; Perez, Laura; Shy, Rosemary R; Laura, Matilde; Morrow, Jasper M; Moroni, Isabella; Pisciotta, Chiara; Taroni, Franco; Vujovic, Dragan; Lloyd, Thomas E; Acsadi, Gyula; Yum, Sabrina W; Lewis, Richard A; Finkel, Richard S; Herrmann, David N; Day, John W; Li, Jun; Saporta, Mario; Sadjadi, Reza; Walk, David; Burns, Joshua; Muntoni, Francesco; Ramchandren, Sindhu; Horvath, Rita; Johnson, Nicholas E; Züchner, Stephan; Pareyson, Davide; Scherer, Steven S; Rossor, Alexander M; Shy, Michael E; Reilly, Mary M.

Brain ; 143(12): 3589-3602, 2020 12 01.

Artigo em Inglês | MEDLINE | ID: mdl-33415332

10.

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

Sanmaneechai, Oranee; Feely, Shawna; Scherer, Steven S; Herrmann, David N; Burns, Joshua; Muntoni, Francesco; Li, Jun; Siskind, Carly E; Day, John W; Laura, Matilde; Sumner, Charlotte J; Lloyd, Thomas E; Ramchandren, Sindhu; Shy, Rosemary R; Grider, Tiffany; Bacon, Chelsea; Finkel, Richard S; Yum, Sabrina W; Moroni, Isabella; Piscosquito, Giuseppe; Pareyson, Davide; Reilly, Mary M; Shy, Michael E.

Brain ; 138(Pt 11): 3180-92, 2015 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-26310628

11.

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

Ramchandren, Sindhu; Shy, Michael; Feldman, Eva; Carlos, Ruth; Siskind, Carly.

J Neurol Neurosurg Psychiatry ; 86(6): 635-9, 2015 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-25157034

12.

Anterior tibialis CMAP amplitude correlations with impairment in CMT1A.

Komyathy, Kelsey; Neal, Stephanie; Feely, Shawna; Miller, Lindsey J; Lewis, Richard A; Trigge, George; Siskind, Carly E; Shy, Michael E; Ramchandren, Sindhu.

Muscle Nerve ; 47(4): 493-6, 2013 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-23456782

13.

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

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

Neurology ; 94(9): e884-e896, 2020 03 03.

Artigo em Inglês | MEDLINE | ID: mdl-32047073

14.

Charcot-Marie-Tooth Disease and Other Genetic Polyneuropathies.

Ramchandren, Sindhu.

Continuum (Minneap Minn) ; 23(5, Peripheral Nerve and Motor Neuron Disorders): 1360-1377, 2017 10.

Artigo em Inglês | MEDLINE | ID: mdl-28968366

15.

Effect of pain in pediatric inherited neuropathies.

Ramchandren, Sindhu; Jaiswal, Mamta; Feldman, Eva; Shy, Michael.

Neurology ; 82(9): 793-7, 2014 Mar 04.

Artigo em Inglês | MEDLINE | ID: mdl-24477108

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