Pesquisa | BVS Violência e Saúde

1.

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.

Liu, James; He, Yi; Lwin, Cara; Han, Marina; Guan, Bin; Naik, Amelia; Bender, Chelsea; Moore, Nia; Huryn, Laryssa A; Sergeev, Yuri V; Qian, Haohua; Zeng, Yong; Dong, Lijin; Liu, Pinghu; Lei, Jingqi; Haugen, Carl J; Prasov, Lev; Shi, Ruifang; Dollfus, Hélène; Aristodemou, Petros; Laich, Yannik; Németh, Andrea H; Taylor, John; Downes, Susan; Krawczynski, Maciej R; Meunier, Isabelle; Strassberg, Melissa; Tenney, Jessica; Gao, Josephine; Shear, Matthew A; Moore, Anthony T; Duncan, Jacque L; Menendez, Beatriz; Hull, Sarah; Vincent, Andrea L; Siskind, Carly E; Traboulsi, Elias I; Blackstone, Craig; Sisk, Robert A; Miraldi Utz, Virginia; Webster, Andrew R; Michaelides, Michel; Arno, Gavin; Synofzik, Matthis; Hufnagel, Robert B.

Brain ; 147(6): 2085-2097, 2024 Jun 03.

Artigo em Inglês | MEDLINE | ID: mdl-38735647

2.

Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study.

Meyer, Alayne P; Barnett, Cara L; Myers, Katherine; Siskind, Carly E; Moscarello, Tia; Logan, Rachel; Roggenbuck, Jennifer; Rich, Kelly A.

J Med Genet ; 61(4): 356-362, 2024 Mar 21.

Artigo em Inglês | MEDLINE | ID: mdl-38050027

3.

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

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.

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.

Xue, Shifeng; Maluenda, Jérôme; Marguet, Florent; Shboul, Mohammad; Quevarec, Loïc; Bonnard, Carine; Ng, Alvin Yu Jin; Tohari, Sumanty; Tan, Thong Teck; Kong, Mung Kei; Monaghan, Kristin G; Cho, Megan T; Siskind, Carly E; Sampson, Jacinda B; Rocha, Carolina Tesi; Alkazaleh, Fawaz; Gonzales, Marie; Rigonnot, Luc; Whalen, Sandra; Gut, Marta; Gut, Ivo; Bucourt, Martine; Venkatesh, Byrappa; Laquerrière, Annie; Reversade, Bruno; Melki, Judith.

Am J Hum Genet ; 100(4): 659-665, 2017 Apr 06.

Artigo em Inglês | MEDLINE | ID: mdl-28318499

9.

Supervision in genetic counselor training in North America: A systematic review.

Siskind, Carly E; Atzinger, Carrie L.

J Genet Couns ; 28(6): 1069-1086, 2019 12.

Artigo em Inglês | MEDLINE | ID: mdl-31538367

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.

Impact of Huntington Disease Gene-Positive Status on Pre-Symptomatic Young Adults and Recommendations for Genetic Counselors.

Gong, Ping; Fanos, Joanna H; Korty, Lauren; Siskind, Carly E; Hanson-Kahn, Andrea K.

J Genet Couns ; 25(6): 1188-1197, 2016 12.

Artigo em Inglês | MEDLINE | ID: mdl-27103420

12.

Genetic testing practices for Charcot-Marie-Tooth type 1A disease.

Tousignant, Renee; Trepanier, Angela; Shy, Michael E; Siskind, Carly E.

Muscle Nerve ; 49(4): 478-82, 2014 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-23963961

13.

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

14.

A review of genetic counseling for Charcot Marie Tooth disease (CMT).

Siskind, Carly E; Panchal, Seema; Smith, Corrine O; Feely, Shawna M E; Dalton, Joline C; Schindler, Alice B; Krajewski, Karen M.

J Genet Couns ; 22(4): 422-36, 2013 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-23604902

15.

Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders.

Liu, James; He, Yi; Lwin, Cara; Han, Marina; Guan, Bin; Naik, Amelia; Bender, Chelsea; Moore, Nia; Huryn, Laryssa A; Sergeev, Yuri; Qian, Haohua; Zeng, Yong; Dong, Lijin; Liu, Pinghu; Lei, Jingqi; Haugen, Carl J; Prasov, Lev; Shi, Ruifang; Dollfus, Hélène; Aristodemou, Petros; Laich, Yannik; Németh, Andrea H; Taylor, John; Downes, Susan; Krawczynski, Maciej; Meunier, Isabelle; Strassberg, Melissa; Tenney, Jessica; Gao, Josephine; Shear, Matthew A; Moore, Anthony T; Duncan, Jacque L; Menendez, Beatriz; Hull, Sarah; Vincent, Andrea; Siskind, Carly E; Traboulsi, Elias I; Blackstone, Craig; Sisk, Robert; Utz, Virginia; Webster, Andrew R; Michaelides, Michel; Arno, Gavin; Synofzik, Matthis; Hufnagel, Robert B.

bioRxiv ; 2023 Jun 11.

Artigo em Inglês | MEDLINE | ID: mdl-37333224

16.

Charcot-Marie-Tooth disease subtypes and genetic testing strategies.

Saporta, Anita S D; Sottile, Stephanie L; Miller, Lindsey J; Feely, Shawna M E; Siskind, Carly E; Shy, Michael E.

Ann Neurol ; 69(1): 22-33, 2011 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-21280073

17.

Genetics of neuropathies.

Siskind, Carly E; Shy, Michael E.

Semin Neurol ; 31(5): 494-505, 2011 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-22266887

18.

Phenotype expression in women with CMT1X.

Siskind, Carly E; Murphy, Sinéad M; Ovens, Richard; Polke, James; Reilly, Mary M; Shy, Michael E.

J Peripher Nerv Syst ; 16(2): 102-7, 2011 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-21692908

19.

PMP22 expression in dermal nerve myelin from patients with CMT1A.

Katona, Istvan; Wu, Xingyao; Feely, Shawna M E; Sottile, Stephanie; Siskind, Carly E; Miller, Lindsey J; Shy, Michael E; Li, Jun.

Brain ; 132(Pt 7): 1734-40, 2009 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-19447823

20.

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

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