Pesquisa | Biblioteca Virtual em Saúde

1.

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

O'Donnell-Luria, Anne H; Pais, Lynn S; Faundes, Víctor; Wood, Jordan C; Sveden, Abigail; Luria, Victor; Abou Jamra, Rami; Accogli, Andrea; Amburgey, Kimberly; Anderlid, Britt Marie; Azzarello-Burri, Silvia; Basinger, Alice A; Bianchini, Claudia; Bird, Lynne M; Buchert, Rebecca; Carre, Wilfrid; Ceulemans, Sophia; Charles, Perrine; Cox, Helen; Culliton, Lisa; Currò, Aurora; Demurger, Florence; Dowling, James J; Duban-Bedu, Benedicte; Dubourg, Christèle; Eiset, Saga Elise; Escobar, Luis F; Ferrarini, Alessandra; Haack, Tobias B; Hashim, Mona; Heide, Solveig; Helbig, Katherine L; Helbig, Ingo; Heredia, Raul; Héron, Delphine; Isidor, Bertrand; Jonasson, Amy R; Joset, Pascal; Keren, Boris; Kok, Fernando; Kroes, Hester Y; Lavillaureix, Alinoë; Lu, Xin; Maas, Saskia M; Maegawa, Gustavo H B; Marcelis, Carlo L M; Mark, Paul R; Masruha, Marcelo R; McLaughlin, Heather M; McWalter, Kirsty.

Am J Hum Genet; 104(6): 1210-1222, 2019 Jun 06.

Artigo em Inglês | MEDLINE | ID: mdl-31079897

2.

TRPM7 is required within zebrafish sensory neurons for the activation of touch-evoked escape behaviors.

Low, Sean E; Amburgey, Kimberly; Horstick, Eric; Linsley, Jeremy; Sprague, Shawn M; Cui, Wilson W; Zhou, Weibin; Hirata, Hiromi; Saint-Amant, Louis; Hume, Richard I; Kuwada, John Y.

J Neurosci; 31(32): 11633-44, 2011 Aug 10.

Artigo em Inglês | MEDLINE | ID: mdl-21832193

3.

Prevalence of congenital myopathies in a representative pediatric united states population.

Amburgey, Kimberly; McNamara, Nancy; Bennett, Lindsey R; McCormick, M Eileen; Acsadi, Gyula; Dowling, James J.

Ann Neurol; 70(4): 662-5, 2011 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-22028225

4.

Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy.

Gonorazky, Hernan D; Amburgey, Kimberly; Yoon, Grace; Vajsar, Jiri; Widjaja, Elysa; Dowling, James J.

Muscle Nerve; 56(5): E41-E44, 2017 11.

Artigo em Inglês | MEDLINE | ID: mdl-28667691

5.

Quality of life and autonomy in emerging adults with early-onset neuromuscular disorders.

Huismann, Darcy J; Sheldon, Jane P; Yashar, Beverly M; Amburgey, Kimberly; Dowling, James J; Petty, Elizabeth M.

J Genet Couns; 21(5): 713-25, 2012 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-22367485

6.

A natural history study of X-linked myotubular myopathy.

Amburgey, Kimberly; Tsuchiya, Etsuko; de Chastonay, Sabine; Glueck, Michael; Alverez, Rachel; Nguyen, Cam-Tu; Rutkowski, Anne; Hornyak, Joseph; Beggs, Alan H; Dowling, James J.

Neurology; 89(13): 1355-1364, 2017 Sep 26.

Artigo em Inglês | MEDLINE | ID: mdl-28842446

7.

Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study.

Bamaga, Ahmed K; Riazi, Sheila; Amburgey, Kimberly; Ong, Shaun; Halliday, William; Diamandis, Phedias; Guerguerian, Anne-Marie; Dowling, James J; Yoon, Grace.

Neuromuscul Disord; 26(3): 201-6, 2016 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-26951757

8.

Approach to the diagnosis of congenital myopathies.

North, Kathryn N; Wang, Ching H; Clarke, Nigel; Jungbluth, Heinz; Vainzof, Mariz; Dowling, James J; Amburgey, Kimberly; Quijano-Roy, Susana; Beggs, Alan H; Sewry, Caroline; Laing, Nigel G; Bönnemann, Carsten G.

Neuromuscul Disord; 24(2): 97-116, 2014 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-24456932

9.

Genotype-phenotype correlations in recessive RYR1-related myopathies.

Amburgey, Kimberly; Bailey, Angela; Hwang, Jean H; Tarnopolsky, Mark A; Bonnemann, Carsten G; Medne, Livija; Mathews, Katherine D; Collins, James; Daube, Jasper R; Wellman, Gregory P; Callaghan, Brian; Clarke, Nigel F; Dowling, James J.

Orphanet J Rare Dis; 8: 117, 2013 Aug 06.

Artigo em Inglês | MEDLINE | ID: mdl-23919265

10.

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.

Clarke, Nigel F; Amburgey, Kimberly; Teener, James; Camelo-Piragua, Sandra; Kesari, Akanchha; Punetha, Jaya; Waddell, Leigh B; Davis, Mark; Laing, Nigel G; Monnier, Nicole; North, Kathryn N; Hoffman, Eric P; Dowling, James J.

Neuromuscul Disord; 23(5): 432-6, 2013 May.

Artigo em Inglês | MEDLINE | ID: mdl-23478172

11.

A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy.

Al-Hashim, Aqeela; Gonorazky, Hernan D; Amburgey, Kimberly; Das, Soma; Dowling, James J.

Neurol Genet; 3(5): e182, 2017 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-28852708

12.

Consensus statement on standard of care for congenital myopathies.

Wang, Ching H; Dowling, James J; North, Kathryn; Schroth, Mary K; Sejersen, Thomas; Shapiro, Frederic; Bellini, Jonathan; Weiss, Hali; Guillet, Marc; Amburgey, Kimberly; Apkon, Susan; Bertini, Enrico; Bonnemann, Carsten; Clarke, Nigel; Connolly, Anne M; Estournet-Mathiaud, Brigitte; Fitzgerald, Dominic; Florence, Julaine M; Gee, Richard; Gurgel-Giannetti, Juliana; Glanzman, Allan M; Hofmeister, Brittany; Jungbluth, Heinz; Koumbourlis, Anastassios C; Laing, Nigel G; Main, Marion; Morrison, Leslie A; Munns, Craig; Rose, Kristy; Schuler, Pamela M; Sewry, Caroline; Storhaug, Kari; Vainzof, Mariz; Yuan, Nanci.

J Child Neurol; 27(3): 363-82, 2012 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-22431881

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