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TITLE: A challenging coexistence of central diabetes insipidus and cerebral salt wasting syndrome: A case report  Full Text
AUTHORS: Costa, MM; Esteves, C; Castedo, JL; Pereira, J; Carvalho, D ;
PUBLISHED: 2018, SOURCE: Journal of Medical Case Reports, VOLUME: 12, ISSUE: 1
INDEXED IN: Scopus CrossRef: 14
82
TITLE: Investigation on modulation of DNA repair pathways in Chinese MJD patients  Full Text
AUTHORS: Wang, CR; Chen, Z; Peng, HR; Peng, Y; Zhou, X; Yang, HH; Wang, PZ; Li, TJ; Hou, XC; Qiu, R; Xia, K; Sequeiros, J; Tang, BS; Jiang, H;
PUBLISHED: 2018, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 71
INDEXED IN: Scopus WOS CrossRef: 5
IN MY: ORCID
85
TITLE: A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37  Full Text
AUTHORS: Loureiro, JR; Oliveira, CL; Sequeiros, J; Silveira, I;
PUBLISHED: 2018, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 63, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 7
IN MY: ORCID
86
TITLE: Family dynamics in transthyretin-related familial amyloid polyneuropathy Val30Met: Does genetic risk affect family functioning?  Full Text
AUTHORS: Alice Lopes; Carla Rodrigues; Isabel Fonseca ; Alexandra Sousa; Margarida Branco; Teresa Coelho; Jorge Sequeiros; Paula Freitas;
PUBLISHED: 2018, SOURCE: CLINICAL GENETICS, VOLUME: 94, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID
87
TITLE: Communication of Information about Genetic Risks: Putting Families at the Center  Full Text
AUTHORS: Alvaro Mendes ; Alison Metcalfe; Milena Paneque ; Liliana Sousa ; Angus J Clarke; Jorge Sequeiros;
PUBLISHED: 2018, SOURCE: FAMILY PROCESS, VOLUME: 57, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 38
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88
TITLE: Genetic modifiers of age-at-onset in polyglutamine diseases  Full Text
AUTHORS: Chen, Z; Sequeiros, J; Tang, BS; Jiang, H;
PUBLISHED: 2018, SOURCE: AGEING RESEARCH REVIEWS, VOLUME: 48
INDEXED IN: Scopus WOS CrossRef: 22
IN MY: ORCID
89
TITLE: Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes
AUTHORS: Marie Coutelier; Monia B Hammer; Giovanni Stevanin; Marie Lorraine Monin; Claire Sophie Davoine; Fanny Mochel; Pierre Labauge; Claire Ewenczyk; Jinhui Ding; Raphael R Gibbs; Didier Hannequin; Judith Melki; Annick Toutain; Vincent Laugel; Sylvie Forlani; Perrine Charles; Emmanuel Broussolle; Stéphane Thobois; Alexandra Afenjar; Mathieu Anheim; Patrick Calvas; Giovanni Castelnovo; Thomas De Broucker; Marie Vidailhet; Antoine Moulignier; Robert T Ghnassia; Chantal Tallaksen; Cyril Mignot; Cyril Goizet; Isabelle Le Ber; Elisabeth Ollagnon Roman; Jean Pouget; Alexis Brice; Andrew Singleton; Alexandra Durr; Soraya Belarabi; Abdelmadjid Hamri; Meriem Tazir; Sylvia Boesch; Massimo Pandolfo; Urielle Ullmann; Laura Jardim; Velina Guergueltcheva; Ivalo Tournev; Bing Wen Soong; Olga Lucia Pedraza Linarès; Jørgen E Nielsen; Kirsten Svenstrup; Maha Zaki; Jean Philippe Azulay; Guillaume Banneau; Odile Boesfplug Tanguy; Andrea Burgo; Cécile Cazeneuve; Frédéric Darios; Christel Depienne; Charles Duyckaerts; Bertrand Fontaine; Jamilé Hazan; Michel Koenig; Cecilia Marelli; Karine N'guyen; Diana Rodriguez; Annie Sittler; Christophe Verny; Peter Bauer; Lüdger Schöls; Rebecca Schüle; Georgios Koutsis; Alexander Lossos; Antonella Antenora; Maria Teresa Bassi; Manuela Basso; Enrico Bertini; Alfredo Brusco; Carlo Casali; Giorgio Casari; Chiara Criscuolo; Alessandro Filla; Maria Lieto; Laura Orsi; Filippo M Santorelli; Enza Maria Valente; Marinela Vavla; Giovanni Vazza; André Megarbane; Ali Benomar; Richard Roxburgh; Anne Kjersti Erichsen; Isabel Alonso; Paula Coutinho; José Léal Loureiro; Jorge Sequeiros; Mustapha Salih; Vladimir S Kostic; Idoia Rouco Axpe; Samir Roumani; Berry Kremer; Willeke Van Roon Mom; Amir Boukhris; ...More
PUBLISHED: 2018, SOURCE: JAMA Neurology, VOLUME: 75, ISSUE: 5
INDEXED IN: Scopus CrossRef: 96
IN MY: ORCID
90
TITLE: Illness representations, knowledge and motivation to perform presymptomatic testing for late-onset genetic diseases  Full Text
AUTHORS: Leite, A ; Dinis, Maria Alzira Pimenta ; Sequeiros, J; Constança Paul ;
PUBLISHED: 2017, SOURCE: PSYCHOLOGY HEALTH & MEDICINE, VOLUME: 22, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 4 Handle
IN MY: ORCID
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