Pesquisa | BVS Violência e Saúde

1.

Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.

Meyer, Alayne P; Forrest, Megan E; Nicolau, Stefan; Wiszniewski, Wojciech; Bland, Mary Pat; Tsao, Chang-Yong; Antonellis, Anthony; Abreu, Nicolas J.

Hum Mutat ; 43(7): 869-876, 2022 07.

Artigo em Inglês | MEDLINE | ID: mdl-35332613

2.

ACTIVE (Ability Captured Through Interactive Video Evaluation) workspace volume video game to quantify meaningful change in spinal muscular atrophy.

Alfano, Lindsay N; Miller, Natalie F; Iammarino, Megan A; Moore Clingenpeel, Melissa; Lowes, Suzanne L; Dugan, Margaret E; Kissel, John T; Al Zaidy, Samiah; Tsao, Chang-Yong; Lowes, Linda P.

Dev Med Child Neurol ; 62(3): 303-309, 2020 03.

Artigo em Inglês | MEDLINE | ID: mdl-30963554

3.

Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic.

Waldrop, Megan A; Pastore, Matthew; Schrader, Rachel; Sites, Emily; Bartholomew, Dennis; Tsao, Chang-Yong; Flanigan, Kevin M.

Neuropediatrics ; 50(2): 96-102, 2019 04.

Artigo em Inglês | MEDLINE | ID: mdl-30665247

4.

Muscle disease.

Tsao, Chang-Yong.

Pediatr Rev ; 35(2): 49-61; quiz 61, 2014 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-24488829

5.

Continued safety and long-term effectiveness of onasemnogene abeparvovec in Ohio.

Waldrop, Megan A; Chagat, Shannon; Storey, Michael; Meyer, Alayne; Iammarino, Megan; Reash, Natalie; Alfano, Lindsay; Lowes, Linda; Noritz, Garey; Prochoroff, Andre; Rossman, Ian; Ginsberg, Matthew; Mosher, Kathryn; Broomall, Eileen; Bass, Nancy; Gushue, Courtney; Kotha, Kavitha; Paul, Grace; Shell, Richard; Tsao, Chang-Yong; Mendell, Jerry R; Connolly, Anne M.

Neuromuscul Disord ; 34: 41-48, 2024 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-38142474

6.

Validity and Reliability of the Neuromuscular Gross Motor Outcome.

Alfano, Lindsay N; Iammarino, Megan A; Reash, Natalie F; Powers, Brenna R; Shannon, Kiana; Connolly, Anne M; Waldrop, Megan A; Noritz, Garey H; Shell, Richard; Tsao, Chang-Yong; Flanigan, Kevin M; Mendell, Jerry R; Lowes, Linda P.

Pediatr Neurol ; 122: 21-26, 2021 09.

Artigo em Inglês | MEDLINE | ID: mdl-34271497

7.

Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization.

Cottrell, Catherine E; Prior, Thomas W; Pyatt, Robert; Astbury, Caroline; Reshmi, Shalini; Bartholomew, Dennis; Atkin, Joan; Manickam, Kandamurugu; Thrush, Devon Lamb; Pastore, Matthew; Mendell, Jerry; Tsao, Chang-Yong; Al-Dahhak, Roula; Newmeyer, Amy; Gastier-Foster, Julie M.

Am J Med Genet A ; 152A(9): 2301-7, 2010 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-20683981

8.

Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.

Guenther, Ulf-Peter; Handoko, Lusy; Varon, Raymonda; Stephani, Ulrich; Tsao, Chang-Yong; Mendell, Jerry R; Lützkendorf, Susanne; Hübner, Christoph; von Au, Katja; Jablonka, Sibylle; Dittmar, Gunnar; Heinemann, Udo; Schuetz, Anja; Schuelke, Markus.

J Mol Med (Berl) ; 87(1): 31-41, 2009 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-18802676

9.

Natural History of Steroid-Treated Young Boys With Duchenne Muscular Dystrophy Using the NSAA, 100m, and Timed Functional Tests.

Miller, Natalie F; Alfano, Lindsay N; Iammarino, Megan A; Connolly, Anne M; Moore-Clingenpeel, Melissa; Powers, Brenna R; Tsao, Chang-Yong; Waldrop, Megan A; Flanigan, Kevin M; Mendell, Jerry R; Lowes, Linda P.

Pediatr Neurol ; 113: 15-20, 2020 12.

Artigo em Inglês | MEDLINE | ID: mdl-32979653

10.

Gene Therapy for Spinal Muscular Atrophy: Safety and Early Outcomes.

Waldrop, Megan A; Karingada, Cassandra; Storey, Mike A; Powers, Brenna; Iammarino, Megan A; Miller, Natalie F; Alfano, Lindsay N; Noritz, Garey; Rossman, Ian; Ginsberg, Matthew; Mosher, Kathryn A; Broomall, Eileen; Goldstein, Jessica; Bass, Nancy; Lowes, Linda P; Tsao, Chang-Yong; Mendell, Jerry R; Connolly, Anne M.

Pediatrics ; 146(3)2020 09.

Artigo em Inglês | MEDLINE | ID: mdl-32843442

11.

Autistic disorder in 2 children with mitochondrial disorders.

Tsao, Chang-Yong; Mendell, Jerry R.

J Child Neurol ; 22(9): 1121-3, 2007 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-17890412

12.

Isolated neurosarcoidosis presenting as headache and multiple brain and spinal cord lesions mimicking central nervous system metastases.

Tsao, Chang-Yong; Lo, Warren D; Rusin, Jerome A; Henwood, Maria J; Boue, Daniel R.

Brain Dev ; 29(8): 514-8, 2007 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-17307323

13.

Coexisting muscular dystrophies and epilepsy in children.

Tsao, Chang-Yong; Mendell, J R.

J Child Neurol ; 21(2): 148-50, 2006 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-16566880

14.

Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.

Tsao, Chang-Yong.

Pediatr Neurol ; 54: 85-7, 2016 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-26552645

15.

Effective treatment with oxcarbazepine in paroxysmal kinesigenic choreoathetosis.

Tsao, Chang-Yong.

J Child Neurol ; 19(4): 300-1, 2004 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-15163097

16.

Combined partial deficiencies of carnitine palmitoyltransferase II and mitochondrial complex I presenting as increased serum creatine kinase level.

Tsao, Chang-Yong; Mendell, Jerry R.

J Child Neurol ; 17(4): 304-6, 2002 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-12088089

17.

Dermatomyositis in two siblings and a brief review of familial dermatomyositis.

Tsao, Chang-Yong; Mendell, Jerry R; Kissel, John T.

J Child Neurol ; 17(7): 540-2, 2002 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-12269736

18.

Lambert-Eaton myasthenic syndrome in children.

Tsao, Chang-Yong; Mendell, Jerry R; Friemer, Miriam L; Kissel, John T.

J Child Neurol ; 17(1): 74-6, 2002 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-11913581

19.

Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review.

Tsao, Chang-Yong; Herman, Gail; Boué, Daniel R; Prior, Thomas W; Lo, Warren D; Atkin, Joan F; Rusin, Jerome.

J Child Neurol ; 18(1): 62-4, 2003 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-12661941

20.

Cerebellar ataxia, vertical supranuclear gaze palsy, sensorineural deafness, epilepsy, dementia, and hallucinations in an adolescent male.

Tsao, Chang-Yong.

Semin Pediatr Neurol ; 21(2): 106-8, 2014 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-25149939

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Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.

ACTIVE (Ability Captured Through Interactive Video Evaluation) workspace volume video game to quantify meaningful change in spinal muscular atrophy.

Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic.

Muscle disease.

Continued safety and long-term effectiveness of onasemnogene abeparvovec in Ohio.

Validity and Reliability of the Neuromuscular Gross Motor Outcome.

Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization.

Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.

Natural History of Steroid-Treated Young Boys With Duchenne Muscular Dystrophy Using the NSAA, 100m, and Timed Functional Tests.

Gene Therapy for Spinal Muscular Atrophy: Safety and Early Outcomes.

Autistic disorder in 2 children with mitochondrial disorders.

Isolated neurosarcoidosis presenting as headache and multiple brain and spinal cord lesions mimicking central nervous system metastases.

Coexisting muscular dystrophies and epilepsy in children.

Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.

Effective treatment with oxcarbazepine in paroxysmal kinesigenic choreoathetosis.

Combined partial deficiencies of carnitine palmitoyltransferase II and mitochondrial complex I presenting as increased serum creatine kinase level.

Dermatomyositis in two siblings and a brief review of familial dermatomyositis.

Lambert-Eaton myasthenic syndrome in children.

Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review.

Cerebellar ataxia, vertical supranuclear gaze palsy, sensorineural deafness, epilepsy, dementia, and hallucinations in an adolescent male.