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TITLE: Tau and neurofilament light‐chain as fluid biomarkers in spinocerebellar ataxia type 3  Full Text
AUTHORS: Hector Garcia‐Moreno; Mercedes Prudencio; Gilbert Thomas‐Black; Nita Solanky; Karen R Jansen‐West; Rana Hanna AL‐Shaikh; Amanda Heslegrave; Henrik Zetterberg; Magda M Santana; Luis Pereira de Almeida; Ana Vasconcelos‐Ferreira; Cristina Januário; Jon Infante; Jennifer Faber; Thomas Klockgether; Kathrin Reetz; Mafalda Raposo; Ana F Ferreira; Manuela Lima; Ludger Schöls; Matthis Synofzik; Jeannette Hübener‐Schmid; Andreas Puschmann; Sorina Gorcenco; Zbigniew K Wszolek; Leonard Petrucelli; Paola Giunti; ...More
PUBLISHED: 2022, SOURCE: European Journal of Neurology, VOLUME: 29, ISSUE: 8
INDEXED IN: CrossRef: 22
IN MY: ORCID
12
TITLE: Time evolution of the scour induced by a ski jump jet
AUTHORS: Santos, R; Carvalho, E; Lima, MM; Aleixo, R;
PUBLISHED: 2021, SOURCE: JOURNAL OF APPLIED WATER ENGINEERING AND RESEARCH
INDEXED IN: Scopus WOS
13
TITLE: Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity  Full Text
AUTHORS: Hengel, H; Martus, P; Faber, J; Garcia Moreno, H; Solanky, N; Giunti, P; Klockgether, T; Reetz, K; van de Warrenburg, BP; de Almeida, LP; Santana, MM; Januario, C; Silva, P; Thieme, A; Infante, J; de Vries, J; Lima, M; Ferreira, AF; Bushara, K; Jacobi, H; Onyike, C; Schmahmann, JD; Hubener Schmid, J; Synofzik, M; Schols, L; ...More
PUBLISHED: 2021, SOURCE: MOVEMENT DISORDERS, VOLUME: 37, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 7
IN MY: ORCID
14
TITLE: Polyglutamine‐Expanded Ataxin‐3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood  Full Text
AUTHORS: Jeannette Hübener‐Schmid; Kirsten Kuhlbrodt; Julien Peladan; Jennifer Faber; Magda M Santana; Holger Hengel; Heike Jacobi; Kathrin Reetz; Hector Garcia‐Moreno; Mafalda Raposo; Judith van Gaalen; Jon Infante; Katharina M Steiner; Jeroen de Vries; Marcel M Verbeek; Paola Giunti; Luis Pereira de Almeida; Manuela Lima; Bart van de Warrenburg; Ludger Schöls; Thomas Klockgether; Matthis Synofzik; Olaf Riess; ...More
PUBLISHED: 2021, SOURCE: Movement Disorders, VOLUME: 36, ISSUE: 11
INDEXED IN: CrossRef: 21
IN MY: ORCID
15
TITLE: Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease  Full Text
AUTHORS: Akçimen, F; Martins, S ; Liao, C; Bourassa, CV; Catoire, H; Nicholson, GA; Riess, O; Raposo, M; França, MC; Vasconcelos, J; Lima, M; Lopes Cendes, I; Saraiva Pereira, ML; Jardim, LB; Sequeiros, J; Dion, PA; Rouleau, GA;
PUBLISHED: 2020, SOURCE: Aging, VOLUME: 12, ISSUE: 6
INDEXED IN: Scopus CrossRef: 8
IN MY: ORCID
16
TITLE: Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice  Full Text
AUTHORS: Wilke, C; Haas, E; Reetz, K; Faber, J; Garcia Moreno, H; Santana, MM; van de Warrenburg, B; Hengel, H; Lima, M; Filla, A; Durr, A; Melegh, B; Masciullo, M; Infante, J; Giunti, P; Neumann, M; de Vries, J; de Almeida, LP; Rakowicz, M; Jacobi, H; Schule, R; Kaeser, SA; Kuhle, J; Klockgether, T; Schols, L; Barro, C; Hubener Schmid, J; Synofzik, M; ...More
PUBLISHED: 2020, SOURCE: EMBO MOLECULAR MEDICINE, VOLUME: 12, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 71
IN MY: ORCID
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TITLE: The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia  Full Text
AUTHORS: Yau, WY; Raposo, M; Bettencourt, C; Labrum, R; Vasconcelos, J; Parkinson, MH; Giunti, P; Wood, NW; Lima, M; Houlden, H;
PUBLISHED: 2020, SOURCE: BRAIN, VOLUME: 143, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 3
IN MY: ORCID
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TITLE: Accumulation of Mitochondrial DNA Common Deletion Since The Preataxic Stage of Machado-Joseph Disease  Full Text
AUTHORS: Raposo, M; Ramos, A; Santos, C; Kazachkova, N; Teixeira, B; Bettencourt, C; Lima, M;
PUBLISHED: 2019, SOURCE: MOLECULAR NEUROBIOLOGY, VOLUME: 56, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 21
IN MY: ORCID
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TITLE: Age at onset prediction in spinocerebellar ataxia type 3 changes according to population of origin  Full Text
AUTHORS: de Mattos, EP; Leotti, VB; Soong, BW; Raposo, M; Lima, M; Vasconcelos, J; Fussiger, H; Souza, GN; Kersting, N; Furtado, GV; Saute, JAM; Camey, SA; Saraiva Pereira, ML; Jardim, LB;
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 26, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 22
IN MY: ORCID
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TITLE: Mitochondrial DNA haplogroups and age at onset of Machado-Joseph disease/spinocerebellar ataxia type 3: a study in patients from multiple populations  Full Text
AUTHORS: Ramos, A; Planchat, M; Melo, ARV; Raposo, M; Shamim, U; Suroliya, V; Srivastava, AK; Faruq, M; Morino, H; Ohsawa, R; Kawakami, H; Jardim, LB; Saraiva Pereira, ML; Vasconcelos, J; Santos, C; Lima, M;
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 26, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 9
IN MY: ORCID
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