Zobrazeno 1 - 10
of 128
pro vyhledávání: '"J TOMASELLI"'
Autor:
Adriana P Rebelo, Pedro J Tomaselli, Jessica Medina, Ying Wang, Maike Dohrn, Eva Nyvltova, Matt Denzi, Mark Garrett, Sean Smith, Alan Pestronk, ChengCheng Li, Ariel Ruiz, Elizabeth Jacobs, Shawna M E Feely, Marcondes C França, Marcus V Gomes, Diogo Santos, Surinder Kumar, David B Lombard, Mario Saporta, Siegfried Hekimi, Antonio Barrientos, Conrad Weihl, Michael Shy, Wilson Marques, Stephan Zuchner
Publikováno v:
Brain.
COQ7 encodes a hydroxylase responsible for the penultimate step of coenzyme Q10 (CoQ10) biosynthesis in mitochondria. CoQ10 is essential for multiple cellular functions, including mitochondrial oxidative phosphorylation, lipid metabolism, and reactiv
Autor:
David J. Tomaselli, Jill C. Baird
Publikováno v:
Journal of Constructivist Psychology. 34:116-121
In the introduction to Shapiro’s second edition of Embodied Cognition, he identifies his task, and its gravity, without delay. As of the fifth sentence, Shapiro explains that what is at stake in in...
Autor:
Marc Swiontkowski, Marcia J. Tomaselli
Publikováno v:
The Journal of bone and joint surgery. American volume. 104(5)
Autor:
Maria Thereza D. Gama, Pedro Braga‐Neto, Deborah M. Rangel, Clécio Godeiro, Rodrigo Alencar, Emília K. Embiruçu, Mario Cornejo‐Olivas, Elison Sarapura‐Castro, Paula Saffie Awad, Daniela Muñoz Chesta, Marcelo Kauffman, Sergio Rodriguez‐Quiroga, Laura B. Jardim, Felipe F. da Graça, Marcondes C. França, Pedro J. Tomaselli, Wilson Marques, Helio A.G. Teive, Orlando G.P. Barsottini, José Luiz Pedroso, Matthis Synofzik
Publikováno v:
Movement disorders 37(8), 1773-1774 (2022). doi:10.1002/mds.29046
Autosomal recessive cerebellar ataxias (ARCAs) comprisecomplex genetic ataxia disorders with variable central andperipheral nervous system involvement and systemic changes.They can overlap with other conditions such as hereditary spas-tic paraplegia,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbd2112354b1dde02933238d94744cfd
Autor:
Daniel Sabino De Oliveira, Thiago Cardoso Vale, José Luiz Pedroso, Pedro J. Tomaselli, Wilson Marques Júnior, Orlando Graziani Povoas Barsottini
Publikováno v:
Cerebellum (London, England). 21(6)
Autor:
Pedro J. Tomaselli, Vitor Tumas, Filipe Miranda Milagres Araujo, Ângela V. Pimentel, Manuelina C. Macruz Brito, Wilson Marques Júnior
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Movement Disorders Clinical Practice
Universidade de São Paulo (USP)
instacron:USP
Movement Disorders Clinical Practice
Autor:
Janel E. Wilcox, Mary M. Reilly, M Skorupinska, Roy Poh, Pedro J. Tomaselli, James M. Polke, H Houlden, Matilde Laura, Alexander M. Rossor, Andrea Cortese, Michael E. Shy
Publikováno v:
Neurology
ObjectiveTo investigate the effectiveness of targeted next-generation sequencing (NGS) panels in achieving a molecular diagnosis in Charcot-Marie-Tooth disease (CMT) and related disorders in a clinical setting.MethodsWe prospectively enrolled 220 pat
Autor:
Wilson Marques, Thiago Junqueira Ribeiro de Rezende, Pedro J. Tomaselli, Fernando Cendes, José Luiz Pedroso, Fabrício Diniz de Lima, Manoella Guerra de Albuquerque Bueno, Gabriel da Silva Schmitt, Alberto R. M. Martinez, Paula Camila Alves de Assis Pereira Matos, MarcondesCavalcante França, Fabiano Reis, Luciana Cardoso Bonadia, Orlando Graziani Povoas Barsottini
Publikováno v:
Movement disorders : official journal of the Movement Disorder SocietyReferences. 36(11)
Background The cerebellar ataxia, neuropathy, and vestibular areflexia syndrome was initially described in the early 1990s as a late-onset slowly progressive condition. Its underlying genetic cause was recently mapped to the RFC1 gene, and additional
Autor:
Norma Tiraboschi Foss, Diogo Fernandes dos Santos, Amilton Antunes Barreira, Marco Andrey Cipriani Frade, Patrícia T B Nogueira, Vanessa Daccach Marques, André Clériston José dos Santos, Osvaldo J. M. Nascimento, Carolina Lavigne Moreira, Douglas Eulálio Antunes, Luciano Neder, Isabela Maria Bernardes Goulart, Wilson Marques, Pedro J. Tomaselli
Publikováno v:
Brain : a journal of neurology. 145(4)
Disability in leprosy is a direct consequence of damage to the peripheral nervous system which is usually worse in patients with no skin manifestations, an underdiagnosed subtype of leprosy known as primary neural leprosy. We evaluated clinical, neur
Autor:
Divyani Garg, Omar K. Siddiqi, Biswamohan Mishra, Carolynne M Doherty, Robert D S Pitceathly, Roopa Rajan, Allan G. Kermode, Jawad A. Bajwa, Pedro J. Tomaselli, Monica Saini, Venugopalan Y Vishnu, Ajay Asranna, Gita Ramdharry
Publikováno v:
Journal of Medical Internet Research, Vol 23, Iss 5, p e25229 (2021)
Journal of Medical Internet Research
Journal of Medical Internet Research
Twitter is a free, open access social media platform that is widely used in medicine by physicians, scientists, and patients. It provides an opportunity for advocacy, education, and collaboration. However, it is likely not utilized to its full advant