Human Genome Epidemiology Literature Finder
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Records 1 - 15 (of 15 Records) |
| Query Trace: Disease and SPG7[original query] |
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| Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia. Journal of neurology 2012 Feb 259 (2): 246-50. Sánchez-Ferrero Elena, Coto Eliecer, Corao Ana I, Díaz Marta, Gámez Josep, Esteban Jesús, Gonzalo Juan F, Pascual-Pascual Samuel I, López De Munaín Adolfo, Morís Germán, Infante Jon, Del Castillo Emilia, Márquez Celedonio, Alvarez Victor |
| ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. Brain : a journal of neurology 2015 Nov . Montecchiani Celeste, Pedace Lucia, Lo Giudice Temistocle, Casella Antonella, Mearini Marzia, Gaudiello Fabrizio, Pedroso José L, Terracciano Chiara, Caltagirone Carlo, Massa Roberto, St George-Hyslop Peter H, Barsottini Orlando G P, Kawarai Toshitaka, Orlacchio Anton |
| A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings. Journal of neurology 2016 Jun . Polymeris Alexandros A, Tessa Alessandra, Anagnostopoulou Katherine, Rubegni Anna, Galatolo Daniele, Dinopoulos Argirios, Gika Artemis D, Youroukos Sotiris, Skouteli Eleni, Santorelli Filippo M, Pons Ros |
| Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands. Journal of the neurological sciences 2016 May 364 116-21. Balicza Peter, Grosz Zoltan, Gonzalez Michael A, Bencsik Renata, Pentelenyi Klara, Gal Aniko, Varga Edina, Klivenyi Peter, Koller Julia, Züchner Stephan, Molnar Judit Mar |
| Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort. Frontiers in molecular neuroscience 2016 9 92. Krüger Stefanie, Battke Florian, Sprecher Andrea, Munz Marita, Synofzik Matthis, Schöls Ludger, Gasser Thomas, Grehl Torsten, Prudlo Johannes, Biskup Sask |
| A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. Brain : a journal of neurology 2017 Jun 140 (6): 1579-1594. Coutelier Marie, Coarelli Giulia, Monin Marie-Lorraine, Konop Juliette, Davoine Claire-Sophie, Tesson Christelle, Valter Rémi, Anheim Mathieu, Behin Anthony, Castelnovo Giovanni, Charles Perrine, David Albert, Ewenczyk Claire, Fradin Mélanie, Goizet Cyril, Hannequin Didier, Labauge Pierre, Riant Florence, Sarda Pierre, Sznajer Yves, Tison François, Ullmann Urielle, Van Maldergem Lionel, Mochel Fanny, Brice Alexis, Stevanin Giovanni, Durr Alexandra, |
| Utility and implications of exome sequencing in early-onset Parkinson's disease. Movement disorders : official journal of the Movement Disorder Society 2019 01 34 (1): 133-137. Trinh Joanne, Lohmann Katja, Baumann Hauke, Balck Alexander, Borsche Max, Brüggemann Norbert, Dure Leon, Dean Marissa, Volkmann Jens, Tunc Sinem, Prasuhn Jannik, Pawlack Heike, Imhoff Sophie, Lill Christina M, Kasten Meike, Bauer Peter, Rolfs Arndt, , Klein Christi |
Genome-wide association study of white-coat effect in hypertensive patients.
Blood pressure 2019 May 1-11. Rimpelä Jenni M, Niiranen Teemu, Jula Antti, Pörsti Ilkka H, Tikkakoski Antti, Havulinna Aki, Lehtimäki Terho, Salomaa Veikko, Kontula Kimmo K, Hiltunen Timo |
| Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort. Journal of neurology 2021 3 268 (10): 3897-3907. Bogdanova-Mihaylova Petya, Chen Hongying, Plapp Helena Maria, Gorman Ciara, Alexander Michael D, McHugh John C, Moran Sharon, Early Anne, Cassidy Lorraine, Lynch Timothy, Murphy Sinéad M, Walsh Richard |
| Exome-Wide Association Study Reveals Host Genetic Variants Likely Associated with the Severity of COVID-19 in Patients of European Ancestry.
Life (Basel, Switzerland) 2022 Aug 12 (9): . Upadhyai Priyanka, Shenoy Pooja U, Banjan Bhavya, Albeshr Mohammed F, Mahboob Shahid, Manzoor Irfan, Das Ranaj |
| The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia. Frontiers in neurology 2023 9 14 1239725. Amokelani C Mahungu, Elizabeth Steyn, Niki Floudiotis, Lindsay A Wilson, Jana Vandrovcova, Mary M Reilly, Christopher J Record, Michael Benatar, Gang Wu, Sharika Raga, Jo M Wilmshurst, Kireshnee Naidu, Michael Hanna, Melissa Nel, Jeannine M Heckma |
| Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia. European journal of neurology 2023 8 . Pablo Iruzubieta, David Pellerin, Alberto Bergareche, Inés Albajar, Elisabet Mondragón, Ana Vinagre, Roberto Fernández-Torrón, Fermín Moreno, Jon Equiza, David Campo-Caballero, Juan José Poza, Marta Ruibal, Alessandro Formica, Marie-Josée Dicaire, Matt C Danzi, Stephan Zuchner, Ioana Croitoru, Montserrat Ruiz, Agatha Schlüter, Carlos Casasnovas, Aurora Pujol, Bernard Brais, Henry Houlden, Adolfo López de Munain, Javier Ruiz-Martín |
| Spastic Paraplegia Type 7-Associated Optic Neuropathy: A Case Series. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2023 11 . Carter A Bell, Melissa W Ko, Devin D Mackay, Lulu L C D Bursztyn, Scott N Grossm |
| Epigenetic and genetic risk of Alzheimer disease from autopsied brains in two ethnic groups. Acta neuropathologica 2024 8 148 (1): 27. Yiyi Ma, Dolly Reyes-Dumeyer, Angel Piriz, Patricia Recio, Diones Rivera Mejia, Martin Medrano, Rafael A Lantigua, Jean Paul G Vonsattel, Giuseppe Tosto, Andrew F Teich, Benjamin Ciener, Sandra Leskinen, Sharanya Sivakumar, Michael DeTure, Duara Ranjan, Dennis Dickson, Melissa Murray, Edward Lee, David A Wolk, Lee-Way Jin, Brittany N Dugger, Annie Hiniker, Robert A Rissman, Richard Mayeux, Badri N Vardaraj |
| Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease. NPJ Parkinson's disease 2024 10 10 (1): 188. Clodagh Towns, Zih-Hua Fang, Manuela M X Tan, Simona Jasaityte, Theresa M Schmaderer, Eleanor J Stafford, Miriam Pollard, Russel Tilney, Megan Hodgson, Lesley Wu, Robyn Labrum, Jason Hehir, James Polke, Lara M Lange, Anthony H V Schapira, Kailash P Bhatia, , , Andrew B Singleton, Cornelis Blauwendraat, Christine Klein, Henry Houlden, Nicholas W Wood, Paul R Jarman, Huw R Morris, Raquel Re |
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