Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Patricia, de Carvalho Aguiar"'
Autor:
Caroline L. Alves, Thaise G. L. de O. Toutain, Patricia de Carvalho Aguiar, Aruane M. Pineda, Kirstin Roster, Christiane Thielemann, Joel Augusto Moura Porto, Francisco A. Rodrigues
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-20 (2023)
Abstract Autism is a multifaceted neurodevelopmental condition whose accurate diagnosis may be challenging because the associated symptoms and severity vary considerably. The wrong diagnosis can affect families and the educational system, raising the
Externí odkaz:
https://doaj.org/article/a855139d994c436ca2ad05d65420114f
Autor:
Eva-Juliane Vollstedt, Harutyun Madoev, Anna Aasly, Azlina Ahmad-Annuar, Bashayer Al-Mubarak, Roy N Alcalay, Victoria Alvarez, Ignacio Amorin, Grazia Annesi, David Arkadir, Soraya Bardien, Roger A Barker, Melinda Barkhuizen, A Nazli Basak, Vincenzo Bonifati, Agnita Boon, Laura Brighina, Kathrin Brockmann, Andrea Carmine Belin, Jonathan Carr, Jordi Clarimon, Mario Cornejo-Olivas, Leonor Correia Guedes, Jean-Christophe Corvol, David Crosiers, Joana Damásio, Parimal Das, Patricia de Carvalho Aguiar, Anna De Rosa, Jolanta Dorszewska, Sibel Ertan, Rosangela Ferese, Joaquim Ferreira, Emilia Gatto, Gençer Genç, Nir Giladi, Pilar Gómez-Garre, Hasmet Hanagasi, Nobutaka Hattori, Faycal Hentati, Dorota Hoffman-Zacharska, Sergey N Illarioshkin, Joseph Jankovic, Silvia Jesús, Valtteri Kaasinen, Anneke Kievit, Peter Klivenyi, Vladimir Kostic, Dariusz Koziorowski, Andrea A Kühn, Anthony E Lang, Shen-Yang Lim, Chin-Hsien Lin, Katja Lohmann, Vladana Markovic, Mika Henrik Martikainen, George Mellick, Marcelo Merello, Lukasz Milanowski, Pablo Mir, Özgür Öztop-Çakmak, Márcia Mattos Gonçalves Pimentel, Teeratorn Pulkes, Andreas Puschmann, Ekaterina Rogaeva, Esther M Sammler, Maria Skaalum Petersen, Matej Skorvanek, Mariana Spitz, Oksana Suchowersky, Ai Huey Tan, Pichet Termsarasab, Avner Thaler, Vitor Tumas, Enza Maria Valente, Bart van de Warrenburg, Caroline H Williams-Gray, Ruey-Mei Wu, Baorong Zhang, Alexander Zimprich, Justin Solle, Shalini Padmanabhan, Christine Klein
Publikováno v:
PLoS ONE, Vol 18, Iss 10, p e0292180 (2023)
Parkinson's disease (PD) is the fastest-growing neurodegenerative disorder, currently affecting ~7 million people worldwide. PD is clinically and genetically heterogeneous, with at least 10% of all cases explained by a monogenic cause or strong genet
Externí odkaz:
https://doaj.org/article/58585cdc8b73494895f8856cace8556b
Autor:
Julien F. Bally, Drew S. Kern, Conor Fearon, Sarah Camargos, Francisco Pereira da Silva‐Junior, Egberto Reis Barbosa, Laurie J. Ozelius, Patricia de Carvalho Aguiar, Anthony E. Lang
Publikováno v:
Movement Disorders Clinical Practice. 9:659-675
DYT-TUBB4A, formerly known as DYT4, has not been comprehensively described as only one large family and three individual cases have been published. We have recently described an in depth genetic and protein structural analysis of eleven additional ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1707f5ac2f6c21e07ebd47e6f0ed4841
https://doi.org/10.1002/mdc3.13452
https://doi.org/10.1002/mdc3.13452
Autor:
Caroline L. Alves, Thaise G. L. de O. Toutain, Joel Augusto Moura Porto, Patricia de Carvalho Aguiar, Aruane M. Pineda, Francisco A. Rodrigues, Eduardo Pondé de Sena, Christiane Thielemann
Schizophreniais a severe mental disorder associated with persistent or recurrent psychosis, hallucinations, delusions, and thought disorders that affect approximately 26 million people worldwide, according to the World Health Organization (WHO). Seve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ea238d413aceeb621e3b931a2a63bd30
https://doi.org/10.1101/2022.11.06.22282001
https://doi.org/10.1101/2022.11.06.22282001
Autor:
Camila Oliveira Dos Santos Alves, Henrique Ballalai Ferraz, João Carlos Papaterra Limongi, Egberto Reis Barbosa, Vanderci Borges, Sonia Maria Cesar Azevedo Silva, Maria Sheila Guimarães Rocha, Francisco Pereira da Silva-Júnior, Patricia de Carvalho Aguiar
Publikováno v:
Neurological Sciences. 43:1061-1065
Although abnormal movements and postures are the hallmark of dystonia, non-motor symptoms (NMS) are common and negatively affect quality of life. The aim of this study was to screen dystonia patients for NMS and analyze their association with clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fc8a9489b4abf0009c12759844f3dfce
https://doi.org/10.1007/s10072-021-05452-3
https://doi.org/10.1007/s10072-021-05452-3
Autor:
Artur José Marques Paulo, Renata Prôa, Henrique Ballalai Ferraz, Sonia Maria Cesar Azevedo Silva, Danilo Donizete de Faria, Carlos Arruda Baltazar, Patricia de Carvalho Aguiar, Vanderci Borges, Joana Bisol Balardin, João Ricardo Sato
Publikováno v:
Neurorehabilitation and Neural Repair. 35:729-737
Background Functional imaging studies have associated dystonia with abnormal activation in motor and sensory brain regions. Commonly used techniques such as functional magnetic resonance imaging impose physical constraints, limiting the experimental
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0968f92a354303d2a7a70b029cb8d68c
https://doi.org/10.1177/15459683211019341
https://doi.org/10.1177/15459683211019341
Autor:
Orlando G.P. Barsottini, Andre C. Felício, Patricia de Carvalho Aguiar, Clecio Godeiro-Junior, Ming C. Shih, Marcelo Q. Hoexter, Rodrigo A. Bressan, Henrique B. Ferraz, Luiz Augusto F. Andrade
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 67, Iss 1, Pp 7-11 (2009)
OBJECTIVE: To describe clinical and neuroimaging (SPECT) characteristics of Brazilian patients with Parkinson's disease (PD) and mutations in PARK2 or PARK8 genes. METHOD: A total of 119 patients meeting clinical criteria for PD were evaluated. RESUL
Externí odkaz:
https://doaj.org/article/e048604db79b42d5a4e69cf04e1011e6
Autor:
Sonia Maria Cesar Azevedo Silva, Danilo Donizete de Faria, Vanderci Borges, João Ricardo Sato, Renata Prôa Dalle Lucca, Edson Amaro Junior, Patricia de Carvalho Aguiar, Joana Bisol Balardin, Carlos Arruda Baltazar, Artur José Marques Paulo, Henrique Ballalai Ferraz
Publikováno v:
Neurophotonics
Significance: Dystonia is a dynamic and complex disorder. Real-time analysis of brain activity during motor tasks may increase our knowledge on its pathophysiology. Functional near-infrared spectroscopy (fNIRS) is a noninvasive method that enables th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::012bff21d7d0b9ec308cf9417277921e
https://doi.org/10.1117/1.nph.7.4.045004
https://doi.org/10.1117/1.nph.7.4.045004
Autor:
Anthony E. Lang, Laurie J. Ozelius, Julien Bally, Sarah Camargos, Drew S. Kern, Rachita Yadav, Egberto Reis Barbosa, Camila Oliveira dos Santos, Patricia de Carvalho Aguiar, Renato David Puga, Francisco Cardoso, Francisco Pereira da Silva-Junior, Teresa Lee
Publikováno v:
Neurology
Objective: to report four novel TUBB4A mutations leading to laryngeal and cervical dystonia with frequent generalization. Background: DYT-TUBB4A, formerly known as DYT4, has only been described in one large family and two individual cases. The clinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02a18deddfe452603669cc9b75b3432a
https://pubmed.ncbi.nlm.nih.gov/32943487
https://pubmed.ncbi.nlm.nih.gov/32943487
Autor:
Orlando Graziani Povoas Barsottini, Agessandro Abrahao, Edson Bor-Seng-Shu, José Luiz Pedroso, Pedro Braga-Neto, Patricia de Carvalho Aguiar
Publikováno v:
neurogenetics. 16:151-160
Friedreich ataxia (FRDA) is the most common autosomal recessive ataxia worldwide. This review highlights the main clinical features, pathophysiological mechanisms, and therapeutic approaches for FRDA patients. The disease is characterized by a combin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82b42fb57227cf94f686cd5430436804
https://doi.org/10.1007/s10048-015-0439-z
https://doi.org/10.1007/s10048-015-0439-z