Human Genome Epidemiology Literature Finder
Records 1 - 29 (of 29 Records) |
Query Trace: SPG7[original query] |
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A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform. The pharmacogenomics journal 2009 12 10 (3): 191-9. Deeken J F, Cormier T, Price D K, Sissung T M, Steinberg S M, Tran K, Liewehr D J, Dahut W L, Miao X, Figg W |
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 founder mutation p.H701P identified as a major cause of SPG7 in Norway. European journal of neurology 2016 Jan . Rydning S L, Wedding I M, Koht J, Chawla M, Øye A-M, Sheng Y, Vigeland M D, Selmer K K, Tallaksen C M |
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, |
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. Genetics in medicine : official journal of the American College of Medical Genetics 2018 6 21 (1): 195-206. Sun Miao, Johnson Amy Knight, Nelakuditi Viswateja, Guidugli Lucia, Fischer David, Arndt Kelly, Ma Lan, Sandford Erin, Shakkottai Vikram, Boycott Kym, Warman-Chardon Jodi, Li Zejuan, Del Gaudio Daniela, Burmeister Margit, Gomez Christopher M, Waggoner Darrel J, Das So |
Erratum: Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations. Neurology. Genetics 2018 12 4 (6): e300. Authors are not available |
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 |
High diagnostic yield and novel variants in very late-onset spasticity. Journal of neurogenetics 2019 2 33 (1): 27-32. Almomen Momen, Martens Kristina, Quadir Asfia, Pontifex Carly Sabine, Hanson Alexandra, Korngut Lawrence, Pfeffer Gera |
Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications. Parkinsonism & related disorders 2020 9 80 58-64. Kim Minkyeong, Kim Ah Reum, Kim Ji Sun, Park Jongkyu, Youn Jinyoung, Ahn Jong Hyeon, Mun Jun Kyu, Lee Chung, Kim Nam-Soon, Kim Nayoung K D, Park Woong-Yang, Cho Jin Wh |
SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia. Journal of neurology 2020 5 267 (9): 2732-2743. Osmanovic Alma, Widjaja Maylin, Förster Alisa, Weder Julia, Wattjes Mike P, Lange Inken, Sarikidi Anastasia, Auber Bernd, Raab Peter, Christians Anne, Preller Matthias, Petri Susanne, Weber Ruthild |
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 |
Molecular epidemiology of hereditary ataxia in Finland. BMC neurology 2021 10 21 (1): 382. Lipponen Joonas, Helisalmi Seppo, Raivo Joose, Siitonen Ari, Doi Hiroshi, Rusanen Harri, Lehtilahti Maria, Ryytty Mervi, Laakso Markku, Tanaka Fumiaki, Majamaa Kari, Kytövuori Lau |
Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2021 1 48 (5): 655-665. Haj Salem Ikhlass, Beaudin Marie, Stumpf Monica, Estiar Mehrdad A, Côté Pierre-Olivier, Brunet Francis, Gamache Pierre-Luc, Rouleau Guy A, Mourabit-Amari Karim, Gan-Or Ziv, Dupré Nicol |
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 |
Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 3 43 (8): 4989-4996. Xing Fu, Du Ju |
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain. Neurology. Genetics 2022 12 8 (6): e200038. Baviera-Muñoz Raquel, Carretero-Vilarroig Lidón, Vázquez-Costa Juan Francisco, Morata-Martínez Carlos, Campins-Romeu Marina, Muelas Nuria, Sastre-Bataller Isabel, Martínez-Torres Irene, Pérez-García Julia, Sivera Rafael, Sevilla Teresa, Vilchez Juan J, Jaijo Teresa, Espinós Carmen, Millán Jose M, Bataller Luis, Aller Ele |
Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 11 44 (3): 947-959. Fereshtehnejad Seyed-Mohammad, Saleh Philip A, Oliveira Lais M, Patel Neha, Bhowmick Suvorit, Saranza Gerard, Kalia Lorraine |
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands. Brain : a journal of neurology 2022 11 146 (2): 455-460. Rocatcher Aude, Desquiret-Dumas Valérie, Charif Majida, Ferré Marc, Gohier Philippe, Mirebeau-Prunier Delphine, Verny Christophe, Milea Dan, Lenaers Guy, , Bonneau Dominique, Reynier Pascal, Amati-Bonneau Patriz |
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 |
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency. Neurology. Genetics 2023 4 9 (2): e200058. Edoardo Monfrini, Alba Pesini, Fabio Biella, Claudia F R Sobreira, Valentina Emmanuele, Gloria Brescia, Luis Carlos Lopez, Saba Tadesse, Michio Hirano, Giacomo P Comi, Catarina Maria Quinzii, Alessio Di Fon |
Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review. Molecular syndromology 2023 12 14 (6): 477-484. Aida Ghasemi, Zahra Sadr, Mojgan Babanejad, Mohammad Rohani, Afagh Ala |
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 |
Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia. Movement disorders : official journal of the Movement Disorder Society 2024 1 . Yuwen Cao, Haoran Zheng, Zeyu Zhu, Li Yao, Wotu Tian, Li C |
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- Page last updated:Apr 22, 2024
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