Búsqueda | Portal de Búsqueda de la BVS España

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.

Artículo en Inglés | 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.

Artículo en Inglés | 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.

Artículo en Inglés | MEDLINE | ID: mdl-30665247

4.

Muscle disease.

Tsao, Chang-Yong.

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

Artículo en Inglés | 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.

Artículo en Inglés | 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.

Artículo en Inglés | 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.

Artículo en Inglés | 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.

Artículo en Inglés | 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.

Artículo en Inglés | 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.

Artículo en Inglés | 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.

Artículo en Inglés | 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.

Artículo en Inglés | 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.

Artículo en Inglés | 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.

Artículo en Inglés | 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.

Artículo en Inglés | 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.

Artículo en Inglés | 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.

Artículo en Inglés | 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.

Artículo en Inglés | 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.

Artículo en Inglés | 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.

Artículo en Inglés | MEDLINE | ID: mdl-25149939

Portal de Búsqueda de la BVS España

Información y Conocimiento para la Salud

Configurar filtros

Su selección (0)

Formato de exportación:

Exportar:

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.