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Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion. [electronic resource] by
- Santos-Rebouças, Cíntia B
- Boy, Raquel
- Vianna, Evelyn Q
- Gonçalves, Andressa P
- Piergiorge, Rafael M
- Abdala, Bianca B
- Dos Santos, Jussara M
- Calassara, Veluma
- Machado, Filipe B
- Medina-Acosta, Enrique
- Pimentel, Márcia M G
Publication details: Frontiers in genetics 2020
In:
Frontiers in genetics vol. 11
Availability: No items available.
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Parkinson disease: α-synuclein mutational screening and new clinical insight into the p.E46K mutation. [electronic resource] by
- Pimentel, Márcia M G
- Rodrigues, Fabíola C
- Leite, Marco Antônio A
- Campos Júnior, Mário
- Rosso, Ana Lucia
- Nicaretta, Denise H
- Pereira, João S
- Silva, Delson José
- Della Coletta, Marcus V
- Vasconcellos, Luiz Felipe R
- Abreu, Gabriella M
- Dos Santos, Jussara M
- Santos-Rebouças, Cíntia B
Producer: 20160502
In:
Parkinsonism & related disorders vol. 21
Availability: No items available.
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Autosomal dominant Parkinson's disease: Incidence of mutations in LRRK2, SNCA, VPS35 and GBA genes in Brazil. [electronic resource] by
- Abreu, Gabriella de M
- Valença, Débora Cristina T
- Campos, Mário
- da Silva, Camilla P
- Pereira, João S
- Araujo Leite, Marco A
- Rosso, Ana Lucia
- Nicaretta, Denise H
- Vasconcellos, Luiz Felipe R
- da Silva, Delson José
- Della Coletta, Marcus V
- Dos Santos, Jussara M
- Gonçalves, Andressa P
- Santos-Rebouças, Cíntia B
- Pimentel, Márcia M G
Producer: 20170815
In:
Neuroscience letters vol. 635
Availability: No items available.
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CHCHD2 mutational screening in Brazilian patients with familial Parkinson's disease. [electronic resource] by
- Voigt, Danielle D
- Nascimento, Caroline M
- de Souza, Ritiele B
- Cabello Acero, Pedro H
- Campos Júnior, Mário
- da Silva, Camilla P
- Pereira, João S
- Rosso, Ana Lucia
- Araujo Leite, Marco A
- Vasconcellos, Luiz Felipe R
- Della Coletta, Marcus V
- da Silva, Delson J
- Nicaretta, Denise H
- Gonçalves, Andressa P
- Dos Santos, Jussara M
- Calassara, Veluma
- Santos-Rebouças, Cíntia B
- Pimentel, Márcia M G
Producer: 20191126
In:
Neurobiology of aging vol. 74
Availability: No items available.
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Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease. [electronic resource] by
- da Silva, Camilla P
- de M Abreu, Gabriella
- Cabello Acero, Pedro H
- Campos, Mário
- Pereira, João S
- de A Ramos, Sarah R
- Nascimento, Caroline M
- Voigt, Danielle D
- Rosso, Ana Lucia
- Araujo Leite, Marco A
- Vasconcellos, Luiz Felipe R
- Nicaretta, Denise H
- Della Coletta, Marcus V
- da Silva, Delson José
- Gonçalves, Andressa P
- Dos Santos, Jussara M
- Calassara, Veluma
- Valença, Débora Cristina T
- de M Martins, Cyro J
- Santos-Rebouças, Cíntia B
- Pimentel, Márcia M G
Producer: 20180611
In:
Journal of the neurological sciences vol. 381
Availability: No items available.
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