Human Genome Epidemiology Literature Finder
|
Records 1 - 11 (of 11 Records) |
| Query Trace: Disease and SPR[original query] |
|---|
| The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations. Journal of medical genetics 2006 Jul 43 (7): 557-62. Sharma M, Mueller J C, Zimprich A, Lichtner P, Hofer A, Leitner P, Maass S, Berg D, Dürr A, Bonifati V, De Michele G, Oostra B, Brice A, Wood N W, Muller-Myhsok B, Gasser T, |
| Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease. Neurobiology of aging 2011 Nov 32 (11): 2108.e1-5. Sharma Manu, Maraganore Demetrius M, Ioannidis John P A, Riess Olaf, Aasly Jan O, Annesi Grazia, Abahuni Nadine, Bentivoglio Anna Rita, Brice Alexis, Van Broeckhoven Christine, Chartier-Harlin Marie-Christine, Destée Alain, Djarmati Ana, Elbaz Alexis, Farrer Matthew, Ferrarese Carlo, Gibson J Mark, Gispert Suzana, Hattori Nobutaka, Jasinska-Myga Barbara, Klein Christine, Lesage Suzanne, Lynch Timothy, Lichtner Peter, Lambert Jean-Charles, Lang Anthony E, Mellick George D, De Nigris Francesa, Opala Grzegorz, Quattrone Aldo, Riva Chiara, Rogaeva Ekaterina, Ross Owen A, Satake Wataru, Silburn Peter A, Theuns Jessie, Toda Tatsushi, Tomiyama Hiroyuki, Uitti Ryan J, Wirdefeldt Karin, Wszolek Zbigniew, Gasser Thomas, Krüger Rejko, |
| Common variants in PARK loci and related genes and Parkinson's disease. Movement disorders : official journal of the Movement Disorder Society 2011 Feb 26 (2): 280-8. Chung Sun Ju, Armasu Sebastian M, Biernacka Joanna M, Lesnick Timothy G, Rider David N, Lincoln Sarah J, Ortolaza Alexandra I, Farrer Matthew J, Cunningham Julie M, Rocca Walter A, Maraganore Demetrius |
| Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR. BMC medical genetics 2016 17 (1): 65. Zahra Charmaine, Tabone Christine, Camilleri Graziella, Felice Alex E, Farrugia Rosienne, Bezzina Wettinger Stephan |
| Analysis of PRKN Variants and Clinical Features in Polish Patients with Parkinson's Disease. Current genomics 2015 Aug 16 (4): 215-23. Oczkowska Anna, Florczak-Wyspianska Jolanta, Permoda-Osip Agnieszka, Owecki Michal, Lianeri Margarita, Kozubski Wojciech, Dorszewska Jolan |
| c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia. Neurology. Genetics 2017 11 3 (6): e197. Shalash Ali S, Rösler Thomas W, Müller Stefanie H, Salama Mohamed, Deuschl Günther, Müller Ulrich, Opladen Thomas, Petersen Britt-Sabina, Franke Andre, Hopfner Franziska, Kuhlenbäumer Gregor, Höglinger Günter |
| Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy. Annals of clinical and translational neurology 2021 1 8 (3): 704-710. Licchetta Laura, Ferri Lorenzo, La Morgia Chiara, Zenesini Corrado, Caporali Leonardo, Lucia Valentino Maria, Minardi Raffaella, Fulitano Daniela, Di Vito Lidia, Mostacci Barbara, Alvisi Lara, Avoni Patrizia, Liguori Rocco, Tinuper Paolo, Bisulli Francesca, Carelli Valer |
| Principal Component Analysis versus Subject's Residual Profile Analysis for Neuroinflammation Investigation in Parkinson Patients: A PET Brain Imaging Study. Journal of imaging 2022 3 8 (3): . Mabrouk Rost |
| The Avidity of Autoreactive Alpha-Synuclein Antibodies in Leucine-Rich Repeat Kinase 2 Mutation Carriers Is Not Altered Compared to Healthy Controls or Patients with Parkinson's Disease. Biomolecules 2023 9 13 (9): . Alexandra Albus, Yannick Kronimus, Monika Burg-Roderfeld, Hendrik van der Wurp, Dieter Willbold, Tamar Ziehm, Richard Dodel, Jean Alexander Ro |
| Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing. Biomedicines 2023 7 11 (7): . Elisabetta Anna Tendi, Giovanna Morello, Maria Guarnaccia, Valentina La Cognata, Salvatore Petralia, Maria Anna Messina, Concetta Meli, Agata Fiumara, Martino Ruggieri, Sebastiano Cavalla |
| Whole-exome sequencing in a cohort of Chinese patients with isolated cervical dystonia. Heliyon 2024 6 10 (11): e31885. Rui Wu, Wen-Tian Chen, Wei-Kang Dou, Hui-Min Zhou, Ming S |
- Page last reviewed:Feb 1, 2024
- Content source: