Zobrazeno 1 - 10
of 55
pro vyhledávání: '"LAURA B. JARDIM"'
Autor:
Michael J Chao, Kyung-Hee Kim, Jun Wan Shin, Diane Lucente, Vanessa C Wheeler, Hong Li, Jared C Roach, Leroy Hood, Nancy S Wexler, Laura B Jardim, Peter Holmans, Lesley Jones, Michael Orth, Seung Kwak, Marcy E MacDonald, James F Gusella, Jong-Min Lee
Publikováno v:
PLoS Genetics, Vol 14, Iss 5, p e1007274 (2018)
Modifiers of Mendelian disorders can provide insights into disease mechanisms and guide therapeutic strategies. A recent genome-wide association (GWA) study discovered genetic modifiers of Huntington's disease (HD) onset in Europeans. Here, we perfor
Externí odkaz:
https://doaj.org/article/5931f4866f45429eade3b1d4c42f0e25
Autor:
Mario Cornejo-Olivas, Lesly Solis-Ponce, Ismael Araujo-Aliaga, Karina Milla-Neyra, Olimpio Ortega, Maryenela Illanes-Manrique, Pilar Mazzetti, Carla Manrique-Enciso, Diana Cubas-Montecino, Maria Luiza Saraiva-Pereira, Laura B. Jardim, Elison Sarapura-Castro
Publikováno v:
Cerebellum (London, England)References.
Spinocerebellar ataxia type 3 or Machado-Joseph disease (MJD/SCA3) is the most prevalent autosomal dominant cerebellar ataxia worldwide, but its frequency varies by geographic region. We describe MJD/SCA3 patients diagnosed in a tertiary healthcare i
Autor:
Mario Cornejo-Olivas, Lesly Solis-Ponce, Ismael Araujo-Aliaga, Karina Milla-Neyra, Olimpio Ortega, Maryenela Illanes-Manrique, Pilar Mazzetti, Carla Manrique-Enciso, Diana Cubas-Montecino, Maria Luiza Saraiva-Pereira, Laura B. Jardim, Elison Sarapura-Castro
Spinocerebellar ataxia type 3 or Machado-Joseph Disease (MJD/SCA3) is the most prevalent autosomal dominant cerebellar ataxia worldwide, but its frequency varies by geographic region. We describe MJD/SCA3 patients diagnosed in a tertiary healthcare i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6135c4fea67b3e4c820cbd384e5643e9
https://doi.org/10.21203/rs.3.rs-2069341/v1
https://doi.org/10.21203/rs.3.rs-2069341/v1
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:
Laura B. Jardim, Flávio Aesse, Leonardo M. Vedolin, Cláudio Pitta-Pinheiro, João Marconato, Maira G. Burin, Cláudia Cecchin, Cristina B.O. Netto, Ursula S. Matte, Fernanda Pereira, Luciane Kalakun, Roberto Giugliani
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 64, Iss 3b, Pp 711-717 (2006)
PURPOSE: To report the clinical and neuroimaging, central nervous system (CNS) findings of patients with Fabry disease (FD) during 24 months of enzyme replacement therapy (ERT) with agalsidase-alpha. METHOD: Eight patients were included. Six complete
Externí odkaz:
https://doaj.org/article/710f3a84363d4619a672cb8bc518f0ca
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 58, Iss 3A, Pp 597-606 (2000)
The neuronal ceroid lipofuscinoses (NCL) are a group of inherited progressive neurodegenerative disorders with presentation from infancy to adulthood. Three main childhood forms can be established on the basis of age of onset, clinical course, and ul
Externí odkaz:
https://doaj.org/article/129f2f4031a24dd897252eafbec66afb
Autor:
IDA V.D. SCHWARTZ, LAURA B. JARDIM, ANA C.S. PUGA, SÉRGIO COCOZZA, SANDRA LEISTNER, LUCIANE C. LIMA
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 57, Iss 1, Pp 1-5 (1999)
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene. We have investigated this mutation in five Brazilian patients: f
Externí odkaz:
https://doaj.org/article/0d3bd4a5ce0440a1a30803bc39d3d144
Autor:
Iscia Lopes-Cendesi, Hélio G.A. Teive, Maria E Calcagnotto, Jaderson C. da Costa, Francisco Cardoso, Erika Viana, Jaime A. Maciel, João Radvany, Walter O. Arruda, Paulo C. Trevisol-Bittencourt, Pedro Rosa Neto, Isabel Silveira, Carlos E. Steiner, Walter Pinto-Júnior, André S. Santos, Ylmar Correa Neto, Lineu C. Werneck, Abelardo Q.C. Araújo, Gerson Carakushansky, Luiz R. Mello, Laura B. Jardim, Guy A. Rouleau
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 55, Iss 3B, Pp 519-529 (1997)
Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of autosomal dominant spinocerebellar ataxia (SCA) caused by expansions of a
Externí odkaz:
https://doaj.org/article/02bdfc208fe340e890a607549bd42d95
Autor:
Marcondes C. França Jr, Vanessa E. Emmel, Anelyssa eD'Abreu, Claudia Vianna Maurer-Morelli, Rodrigo eSecolin, Luciana C. Bonadia, Marilza S. Silva, Anamarli eNucci, Laura B. Jardim, Maria Luiza eSaraiva-Pereira, Wilson eMarques Jr, Henry ePaulson, Iscia eLopes-Cendes
Publikováno v:
Frontiers in Neurology, Vol 3 (2012)
Background: Age at onset (AO) in Machado-Joseph disease (MJD) is closely associated with the length of the CAG repeat at the mutant ATXN3 allele, but there are other intervening factors. Experimental evidence indicates that the normal ATXN3 allele an
Externí odkaz:
https://doaj.org/article/0d47f8a0ad33429ebec905f6151c59c4
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 49, Iss 2, Pp 211-214 (1991)
Wilson's disease in an autosomal recessive disorder of copper metabolism where systemic manifestations are secondary to thei accumulation of copper in hepatic, nervous and other tissues. In CNS, the structural lesions most commonly found by CT scan a
Externí odkaz:
https://doaj.org/article/cc74d3ad5717418cadc2b670de873eac