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1
von Clodagh Towns ; Zih-Hua Fang ; Manuela M. X. Tan ; et al.
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-13 (2024)
Schlagworte: Neurology. Diseases of the nervous system; RC346-429
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2
von Uebachs, Mischa ; Wegner, Philipp ; Schaaf, Sebastian ; et al.
The Cerebellum. 23(3):887-895
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3
von Falabella M ; Pizzamiglio C ; Tabara LC ; et al.
Brain, 1 February 2025
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von Labrum, Joseph T., IV ; Byram, Ian R. ; Chebli, Caroline M., editor ; et al.
The Resident's Guide to Shoulder and Elbow Surgery. :191-204
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von Qin, Mia M. ; Shah, Chirag M. ; Wiedrich, Thomas A. ; et al.
Hand and Wrist Injuries in Baseball : A Clinical Guide. :87-97
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von Macken, William L. ; Falabella, Micol ; McKittrick, Caroline ; et al.
Nature Communications. 13(1)
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9
von Macken, WL ; Falabella, M ; Pizzamiglio, C ; et al.
Expert Review of Molecular Diagnostics , 23 (9) pp. 797-814. (2023)
Schlagworte: Bioinformatics; large-scale rearrangements; long-read sequencing; mitochondrial DNA; primary mitochondrial diseases
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10
von Uebachs, M ; Wegner, P ; Schaaf, S ; et al.
Cerebellum (2023) (In press).
Schlagworte: Observational studies; Spinocerebellar ataxia (SCA); Visualization
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11
von Aitken, Jim ; Ambrose, Karen ; Barrell, Sam ; et al.
Nature Biotechnology: The Science and Business of Biotechnology. 38(8):927-931
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12
von Joseph T. Labrum, IV, MD ; Brock D. Foster, MD ; Douglas R. Weikert, MD
JSES International, Vol 4, Iss 3, Pp 470-477 (2020)
Schlagworte: Olecranon fracture; tension band wiring; intramedullary; lag screw; trauma; upper extremity; Orthopedic surgery; RD701-811; Diseases of the musculoskeletal system; RC925-935
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14
von Mavraki E ; Labrum R ; Sergeant K ; et al.
European Journal of Human Genetics, 2022
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15
von Poole, OV ; Pizzamiglio, C ; Murphy, D ; et al.
Annals of Neurology (2021) (In press).
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17
von Nethisinghe, S ; Kesavan, M ; Ging, H ; et al.
International Journal of Molecular Sciences , 22 (14) , Article 7507. (2021)
Schlagworte: Science & Technology; Life Sciences & Biomedicine; Physical Sciences; Biochemistry & Molecular Biology; Chemistry; Multidisciplinary; Friedreich's ataxia; FRDA; ataxia; GAA repeat interruption; triplet repeat primed PCR; TP PCR; frataxin; FXN; TRIPLET-REPEAT; TRINUCLEOTIDE REPEAT; DIABETES-MELLITUS; SPINOCEREBELLAR; EXPANSION; GENE
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18
von Brown, AF ; Parkinson, MH ; Garcia-Moreno, H ; et al.
Frontiers in Neurology , 12 , Article 736253. (2021)
Schlagworte: Friedreich’s ataxia; molecular diagnostics; GAA expansion; triplet-primed PCR; long range PCR
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19
von Hayer, SN ; Liepelt, I ; Barro, C ; et al.
Journal of Neurology , 267 pp. 1420-1430. (2020)
Schlagworte: Neurofilament light chain; NfL; Friedreich’s ataxia; Biomarker; Neurofilament heavy chain; pNfH
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20
von Prudencio, M ; Garcia-Moreno, H ; Jansen-West, KR ; et al.
Science Translational Medicine , 12 (566) , Article eabb7086. (2020)
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21
von Yau, WY ; Raposo, M ; Bettencourt, C ; et al.
Brain , 143 (4) e25. (2020)
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22
Schlagworte: EPOCE; EUROSCA study; dynamic predictions; longitudinal data; spinocerebellar ataxia
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23
von Aitken, Jim ; Ambrose, Karen ; Barrell, Sam ; et al.
Nature Biotechnology: The Science and Business of Biotechnology. 38(8):1000-1000
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24
von Nethisinghe, S ; Lim, WN ; Ging, H ; et al.
Frontiers in Cellular Neuroscience , 12 , Article 429. (2018)
Schlagworte: PolyQ; ataxia; CAG repeat expansions; SCA17; neurodegeneration; genetic counseling
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25
von Nethisinghe, S ; Pigazzini, ML ; Pemble, S ; et al.
Frontiers in Cellular Neuroscience , 12 , Article 200. (2018)
Schlagworte: PolyQ; ataxia; CAG repeat; SCA1; neurodegeneration; genetic counseling
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