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1 . Academic Journal
Free carnitine and branched chain amino acids are not good biomarkers in Huntington’s disease
저자
by
CASTILHOS, Raphael Machado
;
AUGUSTIN, Marina Coutinho
;
SANTOS, José Augusto dos
;
PEDROSO, José Luiz
;
BARSOTTINI, Orlando
, et al.
소스
Arquivos de Neuro-Psiquiatria
. February 2020 78(2)
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7 . Academic Journal
Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions
저자
by
Castilhos, Raphael Machado de
;
Santos, José Augusto dos
;
Augustin, Marina Coutinho
;
Pedroso, José Luiz
;
Barsottini, Orlando
, et al.
소스
Genetics and Molecular Biology
. June 2019 42(2)
Open Access (SciELO)
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7 . Academic Journal
Population medical genetics: translating science to the community
저자
by
Giugliani, Roberto
;
Bender, Fernanda
;
Couto, Rowena
;
Bochernitsan, Aline
;
Brusius-Facchin, Ana Carolina
, et al.
소스
Genetics and Molecular Biology
. January 2019 42(1)
Open Access (SciELO)
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7 . Academic Journal
State biomarkers for Machado Joseph disease: Validation, feasibility and responsiveness to change
저자
by
Furtado, Gabriel Vasata
;
Oliveira, Camila Maria de
;
Bolzan, Gabriela
;
Saute, Jonas Alex Morales
;
Saraiva-Pereira, Maria Luiza
, et al.
소스
Genetics and Molecular Biology
. January 2019 42(1)
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7 . Academic Journal
Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases
저자
by
Vieira, Taiane Alves
;
Trapp, Franciele Barbosa
;
Souza, Carolina Fischinger Moura de
;
Faccini, Lavínia Schuler
;
Jardim, Laura Bannach
, et al.
소스
Genetics and Molecular Biology
. January 2019 42(1)
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7 . Academic Journal
Cross-cultural adaptation and validation of the International Cooperative Ataxia Rating Scale (ICARS) to Brazilian Portuguese
저자
by
Maggi, Fernanda Aparecida
;
Braga-Neto, Pedro
;
Chien, Hsin Fen
;
Gama, Maria Thereza Drumond
;
Rezende Filho, Flávio Moura
, et al.
소스
Arquivos de Neuro-Psiquiatria
. October 2018 76(10)
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7 . Academic Journal
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil
저자
by
Burguêz, Daniela
;
Oliveira, Camila Maria de
;
Rockenbach, Marcio Aloísio Bezerra Cavalcanti
;
Fussiger, Helena
;
Vedolin, Leonardo Modesti
, et al.
소스
Arquivos de Neuro-Psiquiatria
. June 2017 75(6)
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7 . Academic Journal
Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome
저자
by
Saute, Jonas Alex Morales
;
Souza, Carolina Fischinger Moura de
;
Poswar, Fabiano de Oliveira
;
Donis, Karina Carvalho
;
Campos, Lillian Gonçalves
, et al.
소스
Arquivos de Neuro-Psiquiatria
. December 2016 74(12)
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7 . Academic Journal
Genetic counseling and presymptomatic testing programs for Machado-Joseph disease: lessons from Brazil and Portugal
저자
by
Schuler-Faccini, Lavínia
;
Osorio, Claudio Maria
;
Romariz, Flavia
;
Paneque, Milena
;
Sequeiros, Jorge
, et al.
소스
Genetics and Molecular Biology
. January 2014 37(1)
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7 . Academic Journal
Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros
저자
by
Giugliani, Roberto
;
Federhen, Andressa
;
Muñoz Rojas, Maria Verónica
;
Vieira, Taiane Alves
;
Artigalás, Osvaldo
, et al.
소스
Revista da Associação Médica Brasileira
. January 2010 56(3)
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