21
TITLE: Short Communication: Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal
AUTHORS: Couto, Daniela; Sousa, Liliana; Sequeiros, Jorge; Lima, Manuela ; Mendes, Alvaro;
PUBLISHED: 2022, SOURCE: JOURNAL OF COMMUNITY GENETICS, VOLUME: 13, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
22
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
23
TITLE: The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors
AUTHORS: Hengel, Holger; Martus, Peter; Faber, Jennifer; Giunit, Paola; Garcia Moreno, Hector; Solanky, Nita; Klockgether, Thomas; Reetz, Kathrin; van de Warrenburg, Bart P.; Santana, Magda M.; Silva, Patrick; Cunha, Ines; de Almeida, Luis Pereira ; Timmann, Dagmar; Infante, Jon; de Vries, Jeroen; Lima, Manuela ; Pires, Paula; Bushara, Khalaf; Jacobi, Heike; Onyike, Chiadi; Schmahmann, Jeremy D.; Hubener Schmid, Jeannette; Synofzik, Matthis; Schoels, Ludger; ...More
PUBLISHED: 2022, SOURCE: JOURNAL OF NEUROLOGY, VOLUME: 270, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 9
24
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
25
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
26
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: 15
27
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
28
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
29
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
30
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
Page 3 of 12. Total results: 113.