Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 125 Records) |
| Query Trace: Spastic Paraplegia 7[original query] |
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| Investigating KIF1A mutations in a Taiwanese cohort with hereditary spastic paraplegia. Parkinsonism & related disorders 2022 9 103 144-149. Hsu Shao-Lun, Liao Yi-Chu, Lin Kon-Ping, Lin Po-Yu, Yu Kai-Wei, Tsai Yu-Shuen, Guo Yuh-Cherng, Lee Yi-Chu |
| Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children. Developmental medicine and child neurology 2022 9 65 (3): 416-423. Wang Jiaping, Fang Fang, Ding Changhong, Li Jiuwei, Wu Yun, Zhang Weihua, Bao Xinhua, Lv Junlan, Wang Xiaohui, Ren Xiaotun, |
| Mutation Screening of TFG in ?-Synucleinopathy and Amyotrophic Lateral Sclerosis. Movement disorders : official journal of the Movement Disorder Society 2022 May . Li Chunyu, Lin Junyu, Gu Xiaojing, Hou Yanbing, Liu Kuncheng, Jiang Qirui, Ou Ruwei, Wei Qianqian, Chen Xueping, Song Wei, Zhao Bi, Wu Ying, Chen Yongping, Shang Huifa |
| Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia. Frontiers in neurology 2022 5 13 872927. Shi Yuzhi, Wang An, Chen Bin, Wang Xingao, Niu Songtao, Li Wei, Li Shaowu, Zhang Zaiqia |
| Clinical and Genetic Features of Chinese Patients With NIPA1-Related Hereditary Spastic Paraplegia Type 6. Frontiers in genetics 2022 4 13 859688. Fu Jun, Ma Mingming, Li Gang, Zhang Jiew |
| Symptomatic Female Spastic Paraplegia Patient with a Novel Heterozygous Variant of the PLP1 Gene. Annals of Indian Academy of Neurology 2022 4 24 (6): 958-960. Kim Ae Ryoung, Lee Yun-Jeong, Kwack Mi Hee, Lee Jong-M |
| 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 |
| A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans. Orphanet journal of rare diseases 2022 3 17 (1): 133. Mahungu Amokelani C, Monnakgotla Nomakhosazana, Nel Melissa, Heckmann Jeannine |
| A novel variant of SPAST in a pedigree with pure hereditary spastic paraplegia in Yunnan Province. Annals of translational medicine 2022 3 10 (2): 67. Shen Tao, Zhang Wen, Li Li, Zuo Rong-Xia, Wang Zi-Jun, Xiao Tai, Zheng Kun-W |
Demographic and Genome Wide Association Analyses According to Muscle Mass Using Data of the Korean Genome and Epidemiology Study.
Journal of Korean medical science 2022 12 37 (50): e346. Gim Jeong-An, Lee Sangyeob, Kim Seung Chan, Baek Kyung-Wan, Yoo Jun- |
| Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland. Journal of neurology 2022 12 . Leighton Danielle J, Ansari Morad, Newton Judith, Parry David, Cleary Elaine, Colville Shuna, Stephenson Laura, Larraz Juan, Johnson Micheala, Beswick Emily, Wong Michael, Gregory Jenna, Carod Artal Javier, Davenport Richard, Duncan Callum, Morrison Ian, Smith Colin, Swingler Robert, Deary Ian J, Porteous Mary, Aitman Timothy J, Chandran Siddharthan, Gorrie George H, Pal Suvankar, , |
| 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 |
| Expanding the spectrum of C9ORF72-related neurodegenerative disorders in the Greek population. Journal of the neurological sciences 2022 10 442 120450. Kartanou Chrisoula, Kontogeorgiou Zoi, Rentzos Michail, Potagas Constantin, Aristeidou Stavroula, Kapaki Elisabeth, Paraskevas George P, Constantinides Vasilios C, Stefanis Leonidas, Papageorgiou Sokratis G, Houlden Henry, Panas Marios, Koutsis Georgios, Karadima Georg |
| Autosomal Recessive Spastic Paraplegia Type 78 Associated with a Homozygous Variant in the ATP13A2 Gene. Movement disorders clinical practice 2022 10 9 (7): 997-1002. Algahtani Hussein, Shirah Bader, Alshammari Salem, Alghamdi Fareeda, Abdulkareem Angham Abdulrhman, Naseer Muhammad Imr |
| [Genetic distribution in Chinese patients with hereditary peripheral neuropathy]. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2022 10 54 (5): 874-883. Liu X X, Duan X H, Zhang S, Sun A P, Zhang Y S, Fan D |
| Interacting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegia. Brain & development 2022 1 44 (5): 329-335. Ayaz Akif, Uzunhan Tugce Aksu, Aydin Kurs |
| 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 |
| Hereditary spastic paraplegia (SPG 48) with deafness and azoospermia: A case report. Frontiers in neurology 2023 4 14 1156100. Ping Jin, Yu Wang, Na Nian, Gong-Qiang Wang, Xiao-Ming |
| Late-onset hereditary spastic paraplegia associated with a genetic variant in interferon induced with helicase c domain 1 (IFIH1) gene. QJM : monthly journal of the Association of Physicians 2023 4 . Zhang Si-Yuan, Zhu Lei, Fan Liang-Liang, Xiang Rong, Zeng Lei, Jin Jie-Yu |
| Plasma CHI3L1 in Amyotrophic Lateral Sclerosis: A Potential Differential Diagnostic Biomarker. Journal of clinical medicine 2023 3 12 (6): . Bombaci Alessandro, Manera Umberto, De Marco Giovanni, Casale Federico, Salamone Paolina, Fuda Giuseppe, Marchese Giulia, Iazzolino Barbara, Peotta Laura, Moglia Cristina, Calvo Andrea, Chiò Adria |
| A de novo low-frequency mosaic variant of KIF1A causes hereditary spastic paraplegia: A literature review. Annals of human genetics 2023 3 . Liu Mengyuan, Li Bing, Wang Xiaona, Li Dongxiao, Xie Zhenhua, Li Yuke, Gao Yang, Chen Baiyun, Zhang Huichun, Wang Yanli, Gao Ch |
| 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 |
| Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions. EBioMedicine 2023 12 99 104931. Jean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie-Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot-Noël, Sylvie Forlani, Ludmila Jornea, Anna Heinzmann, Aude Sangare, Bertrand Gaymard, Lucie Guyant-Maréchal, Perrine Charles, Cecilia Marelli, Jérôme Honnorat, Bertrand Degos, François Tison, Sophie Sangla, Marion Simonetta-Moreau, François Salachas, Maya Tchikviladzé, Giovanni Castelnovo, Fanny Mochel, Stephan Klebe, Anna Castrioto, Silvia Fenu, Aurélie Méneret, Frédéric Bourdain, Marion Wandzel, Virginie Roth, Céline Bonnet, Florence Riant, Giovanni Stevanin, Sandrine Noël, Anne-Laure Fauret-Amsellem, Melanie Bahlo, Paul J Lockhart, Bernard Brais, Mathilde Renaud, Alexis Brice, Alexandra Du |
| Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations. Frontiers in neurology 2023 12 14 1296924. Rosangela Ferese, Simona Scala, Antonio Suppa, Rosa Campopiano, Francesco Asci, Alessandro Zampogna, Maria Antonietta Chiaravalloti, Annamaria Griguoli, Marianna Storto, Alba Di Pardo, Emiliano Giardina, Stefania Zampatti, Francesco Fornai, Giuseppe Novelli, Mirco Fanelli, Chiara Zecca, Giancarlo Logroscino, Diego Centonze, Stefano Gambardel |
| Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy. International journal of molecular sciences 2023 11 24 (22): . Dolores Martínez-Rubio, Isabel Hinarejos, Herminia Argente-Escrig, Clara Marco-Marín, María Ana Lozano, Nerea Gorría-Redondo, Vincenzo Lupo, Itxaso Martí-Carrera, Concepción Miranda, María Vázquez-López, Asunción García-Pérez, Ana Victoria Marco-Hernández, Miguel Tomás-Vila, Sergio Aguilera-Albesa, Carmen Espin |
| 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 |
| Genetic link between KIF1A mutations and amyotrophic lateral sclerosis: evidence from whole-exome sequencing. Frontiers in aging neuroscience 2024 7 16 1421841. Wei Zheng, Ji He, Lu Chen, Weiyi Yu, Nan Zhang, Xiaoxuan Liu, Dongsheng F |
| Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India. Parkinsonism & related disorders 2024 5 124 107012. Divyani Garg, Vikram V Holla, Jacky Ganguly, Roopa Rajan, Arti Saini, Ayush Agarwal, Divya M Radhakrishnan, Purba Basu, Banashree Mondal, Debjyoti Dhar, Nitish Kamble, Ravi Yadav, Babylakshmi Muthusamy, Hrishikesh Kumar, Achal Kumar Srivastava, Pramod Kumar P |
| Hereditary Spastic Paraplegia Associated with Ultra-Rare Variant Enrichment Encompassing the SYNE1, CAPN1 and PGAP1 Genes. Cerebellum (London, England) 2024 12 24 (1): 3. E Fratto, Maurizio Morelli, J Buonocore, A Quattrone, R Procopio, M Gagliardi, E Tinelli, F Fortunato, A Gambardel |
| 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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