Pesquisa | Portal de Pesquisa da BVS

1.

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.

Liu, Zhigang; Xin, Baozhong; Smith, Iris N; Sency, Valerie; Szekely, Julia; Alkelai, Anna; Shuldiner, Alan; Efthymiou, Stephanie; Rajabi, Farrah; Coury, Stephanie; Brownstein, Catherine A; Rudnik-Schöneborn, Sabine; Bruel, Ange-Line; Thevenon, Julien; Zeidler, Shimriet; Jayakar, Parul; Schmidt, Axel; Cremer, Kirsten; Engels, Hartmut; Peters, Sophia O; Zaki, Maha S; Duan, Ruizhi; Zhu, Changlian; Xu, Yiran; Gao, Chao; Sepulveda-Morales, Tania; Maroofian, Reza; Alkhawaja, Issam A; Khawaja, Mariam; Alhalasah, Hunaida; Houlden, Henry; Madden, Jill A; Turchetti, Valentina; Marafi, Dana; Agrawal, Pankaj B; Schatz, Ulrich; Rotenberg, Ari; Rotenberg, Joshua; Mancini, Grazia M S; Bakhtiari, Somayeh; Kruer, Michael; Thiffault, Isabelle; Hirsch, Steffen; Hempel, Maja; Stühn, Lara G; Haack, Tobias B; Posey, Jennifer E; Lupski, James R; Lee, Hyunpil; Sarn, Nicholas B.

Hum Mol Genet ; 32(20): 2981-2995, 2023 Oct 04.

Artigo em Inglês | MEDLINE | ID: mdl-37531237

2.

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Mirzaa, Ghayda M; Chong, Jessica X; Piton, Amélie; Popp, Bernt; Foss, Kimberly; Guo, Hui; Harripaul, Ricardo; Xia, Kun; Scheck, Joshua; Aldinger, Kimberly A; Sajan, Samin A; Tang, Sha; Bonneau, Dominique; Beck, Anita; White, Janson; Mahida, Sonal; Harris, Jacqueline; Smith-Hicks, Constance; Hoyer, Juliane; Zweier, Christiane; Reis, André; Thiel, Christian T; Jamra, Rami Abou; Zeid, Natasha; Yang, Amy; Farach, Laura S; Walsh, Laurence; Payne, Katelyn; Rohena, Luis; Velinov, Milen; Ziegler, Alban; Schaefer, Elise; Gatinois, Vincent; Geneviève, David; Simon, Marleen E H; Kohler, Jennefer; Rotenberg, Joshua; Wheeler, Patricia; Larson, Austin; Ernst, Michelle E; Akman, Cigdem I; Westman, Rachel; Blanchet, Patricia; Schillaci, Lori-Anne; Vincent-Delorme, Catherine; Gripp, Karen W; Mattioli, Francesca; Guyader, Gwenaël Le; Gerard, Bénédicte; Mathieu-Dramard, Michèle.

Genet Med ; 22(3): 538-546, 2020 03.

Artigo em Inglês | MEDLINE | ID: mdl-31723249

3.

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

Luo, Xi; Rosenfeld, Jill A; Yamamoto, Shinya; Harel, Tamar; Zuo, Zhongyuan; Hall, Melissa; Wierenga, Klaas J; Pastore, Matthew T; Bartholomew, Dennis; Delgado, Mauricio R; Rotenberg, Joshua; Lewis, Richard Alan; Emrick, Lisa; Bacino, Carlos A; Eldomery, Mohammad K; Coban Akdemir, Zeynep; Xia, Fan; Yang, Yaping; Lalani, Seema R; Lotze, Timothy; Lupski, James R; Lee, Brendan; Bellen, Hugo J; Wangler, Michael F.

PLoS Genet ; 13(7): e1006905, 2017 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-28742085

4.

PTPN4 germline variants result in aberrant neurodevelopment and growth.

Chmielewska, Joanna J; Burkardt, Deepika; Granadillo, Jorge Luis; Slaugh, Rachel; Morgan, Shamile; Rotenberg, Joshua; Keren, Boris; Mignot, Cyril; Escobar, Luis; Turnpenny, Peter; Zuteck, Melissa; Seaver, Laurie H; Ploski, Rafal; Dziembowska, Magdalena; Wynshaw-Boris, Anthony; Adegbola, Abidemi.

HGG Adv ; 2(3)2021 Jul 08.

Artigo em Inglês | MEDLINE | ID: mdl-34527963

5.

Levetiracetam for the treatment of neonatal seizures.

Shoemaker, Michael T; Rotenberg, Joshua S.

J Child Neurol ; 22(1): 95-8, 2007 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-17608315

6.

Neurodevelopmental toxicology.

Schmid, Carrie; Rotenberg, Joshua S.

Neurol Clin ; 23(2): 321-36, 2005 May.

Artigo em Inglês | MEDLINE | ID: mdl-15757787

7.

Rash, fever, and neck pain in the office: is this a neurologic emergency?

Joseph, Kevin R; Richards, Karen C; Rotenberg, Joshua S.

Pediatr Ann ; 34(11): 878-84; quiz 893-4, 2005 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-16353649

8.

Landau-Kleffner syndrome.

Rotenberg, Joshua; Pearl, Phillip L.

Arch Neurol ; 60(7): 1019-21, 2003 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-12873863

9.

Cyanide as a weapon of terror.

Rotenberg, Joshua S.

Pediatr Ann ; 32(4): 236-40, 2003 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-12723118

10.

Diagnosis and management of nerve agent exposure.

Rotenberg, Joshua S.

Pediatr Ann ; 32(4): 242-50, 2003 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-12723119

11.

Weapons of mass destruction: the decontamination of children.

Rotenberg, Joshua S; Burklow, Thomas R; Selanikio, Joel S.

Pediatr Ann ; 32(4): 260-7, 2003 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-12723121

12.

Successful treatment of recalcitrant restless legs syndrome with botulinum toxin type-A.

Rotenberg, Joshua S; Canard, Kevin; Difazio, Marc.

J Clin Sleep Med ; 2(3): 275-8, 2006 Jul 15.

Artigo em Inglês | MEDLINE | ID: mdl-17561538

13.

Nerve agent attacks on children: diagnosis and management.

Rotenberg, Joshua S; Newmark, Jonathan.

Pediatrics ; 112(3 Pt 1): 648-58, 2003 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-12949297

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