Búsqueda | Portal de Búsqueda de la BVS España

1.

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.

Aneichyk, Tatsiana; Hendriks, William T; Yadav, Rachita; Shin, David; Gao, Dadi; Vaine, Christine A; Collins, Ryan L; Domingo, Aloysius; Currall, Benjamin; Stortchevoi, Alexei; Multhaupt-Buell, Trisha; Penney, Ellen B; Cruz, Lilian; Dhakal, Jyotsna; Brand, Harrison; Hanscom, Carrie; Antolik, Caroline; Dy, Marisela; Ragavendran, Ashok; Underwood, Jason; Cantsilieris, Stuart; Munson, Katherine M; Eichler, Evan E; Acuña, Patrick; Go, Criscely; Jamora, R Dominic G; Rosales, Raymond L; Church, Deanna M; Williams, Stephen R; Garcia, Sarah; Klein, Christine; Müller, Ulrich; Wilhelmsen, Kirk C; Timmers, H T Marc; Sapir, Yechiam; Wainger, Brian J; Henderson, Daniel; Ito, Naoto; Weisenfeld, Neil; Jaffe, David; Sharma, Nutan; Breakefield, Xandra O; Ozelius, Laurie J; Bragg, D Cristopher; Talkowski, Michael E.

Cell; 172(5): 897-909.e21, 2018 02 22.

Artículo en Inglés | MEDLINE | ID: mdl-29474918

2.

The dystonia gene THAP1 controls DNA double-strand break repair choice.

Shinoda, Kenta; Zong, Dali; Callen, Elsa; Wu, Wei; Dumitrache, Lavinia C; Belinky, Frida; Chari, Raj; Wong, Nancy; Ishikawa, Momoko; Stanlie, Andre; Multhaupt-Buell, Trisha; Sharma, Nutan; Ozelius, Laurie; Ehrlich, Michelle; McKinnon, Peter J; Nussenzweig, André.

Mol Cell; 81(12): 2611-2624.e10, 2021 06 17.

Artículo en Inglés | MEDLINE | ID: mdl-33857404

3.

Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.

Domingo, Aloysius; Yadav, Rachita; Shah, Shivangi; Hendriks, William T; Erdin, Serkan; Gao, Dadi; O'Keefe, Kathryn; Currall, Benjamin; Gusella, James F; Sharma, Nutan; Ozelius, Laurie J; Ehrlich, Michelle E; Talkowski, Michael E; Bragg, D Cristopher.

Am J Hum Genet; 108(11): 2145-2158, 2021 11 04.

Artículo en Inglés | MEDLINE | ID: mdl-34672987

4.

Dystonias: Clinical Recognition and the Role of Additional Diagnostic Testing.

Stephen, Christopher D; Dy-Hollins, Marisela; Gusmao, Claudio Melo De; Qahtani, Xena Al; Sharma, Nutan.

Semin Neurol; 43(1): 17-34, 2023 02.

Artículo en Inglés | MEDLINE | ID: mdl-36972613

5.

Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis.

Alecu, Julian Emanuel; Ohmi, Yuhsuke; Bhuiyan, Robiul H; Inamori, Kei-Ichiro; Nitta, Takahiro; Saffari, Afshin; Jumo, Hellen; Ziegler, Marvin; de Gusmao, Claudio Melo; Sharma, Nutan; Ohno, Shiho; Manabe, Noriyoshi; Yamaguchi, Yoshiki; Kambe, Mariko; Furukawa, Keiko; Sahin, Mustafa; Inokuchi, Jin-Ichi; Furakawa, Koichi; Ebrahimi-Fakhari, Darius.

Am J Med Genet A; 188(9): 2590-2598, 2022 09.

Artículo en Inglés | MEDLINE | ID: mdl-35775650

6.

TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X-linked Dystonia-Parkinsonism.

Al Ali, Jamal; Vaine, Christine A; Shah, Shivangi; Campion, Lindsey; Hakoum, Ahmad; Supnet, Melanie L; Acuña, Patrick; Aldykiewicz, Gabrielle; Multhaupt-Buell, Trisha; Ganza, Niecy G M; Lagarde, John B B; De Guzman, Jan K; Go, Criscely; Currall, Benjamin; Trombetta, Bianca; Webb, Pia K; Talkowski, Michael; Arnold, Steven E; Cheah, Pike S; Ito, Naoto; Sharma, Nutan; Bragg, D Cristopher; Ozelius, Laurie; Breakefield, Xandra O.

Mov Disord; 36(1): 206-215, 2021 01.

Artículo en Inglés | MEDLINE | ID: mdl-32975318

7.

Dystonia 16 (DYT16) mutations in PACT cause dysregulated PKR activation and eIF2α signaling leading to a compromised stress response.

Burnett, Samuel B; Vaughn, Lauren S; Sharma, Nutan; Kulkarni, Ronit; Patel, Rekha C.

Neurobiol Dis; 146: 105135, 2020 12.

Artículo en Inglés | MEDLINE | ID: mdl-33049316

8.

Neuroinflammation and histone H3 citrullination are increased in X-linked Dystonia Parkinsonism post-mortem prefrontal cortex.

Petrozziello, Tiziana; Mills, Alexandra N; Vaine, Christine A; Penney, Ellen B; Fernandez-Cerado, Cara; Legarda, Gierold Paul A; Velasco-Andrada, M Salvie; Acuña, Patrick J; Ang, Mark A; Muñoz, Edwin L; Diesta, Cid Czarina E; Macalintal-Canlas, Regina; Acuña-Sunshine, Geraldine; Ozelius, Laurie J; Sharma, Nutan; Bragg, D Cristopher; Sadri-Vakili, Ghazaleh.

Neurobiol Dis; 144: 105032, 2020 10.

Artículo en Inglés | MEDLINE | ID: mdl-32739252

9.

Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1.

Bragg, D Cristopher; Mangkalaphiban, Kotchaphorn; Vaine, Christine A; Kulkarni, Nichita J; Shin, David; Yadav, Rachita; Dhakal, Jyotsna; Ton, Mai-Linh; Cheng, Anne; Russo, Christopher T; Ang, Mark; Acuña, Patrick; Go, Criscely; Franceour, Taylor N; Multhaupt-Buell, Trisha; Ito, Naoto; Müller, Ulrich; Hendriks, William T; Breakefield, Xandra O; Sharma, Nutan; Ozelius, Laurie J.

Proc Natl Acad Sci U S A; 114(51): E11020-E11028, 2017 12 19.

Artículo en Inglés | MEDLINE | ID: mdl-29229810

10.

X-Linked Dystonia-Parkinsonism: recent advances.

Bragg, D Cristopher; Sharma, Nutan; Ozelius, Laurie J.

Curr Opin Neurol; 32(4): 604-609, 2019 08.

Artículo en Inglés | MEDLINE | ID: mdl-31116117

11.

Recurrent flare-associated urticaria in adenosine deaminase type 2 deficiency.

Priyanka, Priyanka; Patra, Pratap Kumar; Banday, Aaqib Zaffar; Reddy, Pakkiresh; Sharma, Nutan; Jannarthanan, Jannarthanan; Bhattarai, Dharmagat.

Rheumatology (Oxford); 63(2): e75-e76, 2024 Feb 01.

Artículo en Inglés | MEDLINE | ID: mdl-37624921

12.

Editorial: Current opinions in neurology editorial.

Sharma, Nutan.

Curr Opin Neurol; 36(4): 291, 2023 Aug 01.

Artículo en Inglés | MEDLINE | ID: mdl-37462046

13.

Functional neurological disorders in Parkinson disease.

Wissel, Benjamin D; Dwivedi, Alok K; Merola, Aristide; Chin, Danielle; Jacob, Cara; Duker, Andrew P; Vaughan, Jennifer E; Lovera, Lilia; LaFaver, Kathrin; Levy, Ariel; Lang, Anthony E; Morgante, Francesca; Nirenberg, Melissa Jill; Stephen, Christopher; Sharma, Nutan; Romagnolo, Alberto; Lopiano, Leonardo; Balint, Bettina; Yu, Xin X; Bhatia, Kailash P; Espay, Alberto J.

J Neurol Neurosurg Psychiatry; 89(6): 566-571, 2018 06.

Artículo en Inglés | MEDLINE | ID: mdl-29549192

14.

X-linked Dystonia-Parkinsonism patient cells exhibit altered signaling via nuclear factor-kappa B.

Vaine, Christine A; Shin, David; Liu, Christina; Hendriks, William T; Dhakal, Jyotsna; Shin, Kyle; Sharma, Nutan; Bragg, D Cristopher.

Neurobiol Dis; 100: 108-118, 2017 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-28017799

15.

Translational effects and coding potential of an upstream open reading frame associated with DOPA Responsive Dystonia.

Jones, Lataisia; Goode, Lacy; Davila, Eduardo; Brown, Amber; McCarthy, Deirdre M; Sharma, Nutan; Bhide, Pradeep G; Armata, Ioanna A.

Biochim Biophys Acta Mol Basis Dis; 1863(6): 1171-1182, 2017 06.

Artículo en Inglés | MEDLINE | ID: mdl-28366877

16.

Synthesis, spectral and extended spectrum beta-lactamase studies of transition metal tetraaza macrocyclic complexes.

Kumar, Dinesh; Sharma, Nutan; Nair, Manjula.

J Biol Inorg Chem; 22(4): 535-543, 2017 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-28101682

17.

Altered activation of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in PKR activator protein PACT.

Vaughn, Lauren S; Bragg, D Cristopher; Sharma, Nutan; Camargos, Sarah; Cardoso, Francisco; Patel, Rekha C.

J Biol Chem; 290(37): 22543-57, 2015 Sep 11.

Artículo en Inglés | MEDLINE | ID: mdl-26231208

18.

Point-of-care ultrasonography of the orbit for detection of retinal detachment in a patient with hemolysis, elevated liver enzymes, and low platelet count syndrome.

Shrestha, Gentle Sunder; Rajbhandari, Shayuja; Dhungel, Shashwat; Sharma, Nutan; Poudel, Nimesh; Manandhar, Dhiraj N.

Indian J Crit Care Med; 20(9): 545-7, 2016 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-27688632

19.

Editorial: Advances in rare movement disorders.

Sharma, Nutan.

Curr Opin Neurol; 33(4): 498-499, 2020 08.

Artículo en Inglés | MEDLINE | ID: mdl-32657891

20.

Update on treatments for dystonia.

Bragg, D Cristopher; Sharma, Nutan.

Curr Neurol Neurosci Rep; 14(6): 454, 2014 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-24744022

Portal de Búsqueda de la BVS España

Información y Conocimiento para la Salud

Configurar filtros

Su selección (0)

Formato de exportación:

Exportar: