Laura Bannach Jardim
机构: Professora da Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, e Serviço de
主页: ufrgs.br
每年引用次数
引用次数
引用: 7,196
H-指数: 44
I10-指数 : 134
出版物: 418
Uma experiência terapêutica no manejo da doença da urina do xarope do bordo
Eliana de Andrade Trotta , Lilia Farret Refosco , Roberto Giugliani , Eurico Camargo Neto
Jornal De Pediatria
1995
Triagem neonatal para hiperfenilalaninemia: um estudo de coorte
Simone de Menezes Karam , Laura Bannach Jardim , Roberto Giugliani , Bernardo Lessa Horta
Rev. AMRIGS 56 ( 1) 17 -21
1
2012
FABRY DISEASE: DIAGNOSIS OF A RARE DISORDER
Liana Bertolin Rossato , Daiana Benck Porsch , Elvino José Guardão Barros , Marilyn Tsao
Clinical & Biomedical Research 26 ( 3)
2006
3
2000
Prevalência Mínima da Doença de Huntington no Rio Grande do Sul e a Instabilidade na Transmissão da Expansão CAG
Roberta Arb Saba , Marina Coutinho Augustin , Raphael Machado de Castilhos , José Augusto dos Santos
2017
Pre-ataxic Changes of Clinical Scales and Eye Movement in Machado-Joseph Disease: BIGPRO Study
Maria‐Luiza Saraiva‐Pereira , Ana Carolina Martins , Laura Bannach Jardim , Vanessa Bielefeldt Leotti
Movement Disorders 36 ( 4) 985 -994
1
2021
Response to ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population
Diana Cubas-Montecino , Tetsuo Ashizawa , Mario Cornejo-Olivas , Maria Luiza Saraiva-Pereira
The Cerebellum 1 -2
2021
Spinocerebellar ataxia type 2 from an evolutionary perspective: Systematic review and meta-analysis
Maria Luiza Saraiva-Pereira , Laura Bannach Jardim , Lucas Schenatto Sena , Jordânia Dos Santos Pinheiro
Clinical Genetics
2021
Challenges in quantifying ataxia in core and comorbid early onset ataxias
Jonas Alex Morales Saute , Laura Bannach Jardim
Developmental Medicine & Child Neurology 59 ( 4) 350 -351
2017
Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease
Adriano M. de Assis , Jonas Alex Morales Saute , Aline Longoni , Clarissa Branco Haas
Frontiers in Neurology 8 485
26
2017
Normal ATXN3 Allele but Not CHIP Polymorphisms Modulates Age at Onset in Machado–Joseph Disease
Marcondes C. França , Vanessa E. Emmel , Anelyssa D’Abreu , Cláudia V. Maurer-Morelli
Frontiers in Neurology 3 164 -164
16
2012
Progression rate of myelopathy in X-linked adrenoleukodystrophy heterozygotes
Clarissa Troller Habekost , Fernanda Santos Pereira , Carmen Regla Vargas , Daniella Moura Coelho
Metabolic Brain Disease 30 ( 5) 1279 -1284
8
2015
State biomarkers for Machado Joseph disease: Validation, feasibility and responsiveness to change.
Gabriel Vasata Furtado , Camila Maria de Oliveira , Gabriela Bolzan , Jonas Alex Morales Saute
Genetics and Molecular Biology 42 ( 1) 238 -251
3
2019
Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions
Raphael Machado de Castilhos , José Augusto dos Santos , Marina Coutinho Augustin , José Luiz Pedroso
Genetics and Molecular Biology 42 ( 2) 329 -336
3
2019
Population medical genetics: translating science to the community
Roberto Giugliani , Fernanda Bender , Rowena Couto , Aline Bochernitsan
Genetics and Molecular Biology 42 ( 1) 312 -320
2
2019
Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases.
Taiane Alves Vieira , Franciele Barbosa Trapp , Carolina Fischinger Moura de Souza , Lavínia Schuler Faccini
Genetics and Molecular Biology 42 ( 1) 155 -164
2
2019
A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations.
Laura Bannach Jardim , Isabel Silveira , Maria Luzia Pereira , Anabela Ferro
Journal of Neurology 248 ( 10) 870 -876
83
2001
Presymptomatic Testing for Neurogenetic Diseases in Brazil: Assessing Who Seeks and Who Follows through with Testing
Caroline Santa Maria Rodrigues , Viviane Ziebell de Oliveira , Gabriela Camargo , Claudio Maria da Silva Osório
Journal of Genetic Counseling 21 ( 1) 101 -112
24
2012
The progression rate of spinocerebellar ataxia type 2 changes with stage of disease
Thais Lampert Monte , , Estela da Rosa Reckziegel , Marina Coutinho Augustin
Orphanet Journal of Rare Diseases 13 ( 1) 1 -8
11
2018
A randomized, phase 2 clinical trial of lithium carbonate in Machado‐Joseph disease
Jonas Alex Morales Saute , Raphael Machado de Castilhos , Thais Lampert Monte , Artur Francisco Schumacher-Schuh
Movement Disorders 29 ( 4) 568 -573
47
2014