Human Genome Epidemiology Literature Finder
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Records 1 - 13 (of 13 Records) |
| Query Trace: Paraplegia and 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 |
| 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 |
| 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 |
| 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 |
| 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 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 |
| 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 |
- Page last reviewed:Feb 1, 2024
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