Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 6 (of 6 Records) |
Query Trace: Autosomal Recessive Spastic Ataxia 4[original query] |
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Copy number variation in pediatric multiple sclerosis. Multiple sclerosis (Houndmills, Basingstoke, England) 2012 Dec . McElroy J, Krupp L, Johnson B, McCauley J, Qi Z, Caillier S, Gourraud P, Yu J, Nathanson L, Belman A, Hauser S, Waubant E, Hedges D, Oksenberg J |
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. Annals of neurology 2015 Aug . Pilliod Julie, Moutton Sébastien, Lavie Julie, Maurat Elise, Hubert Christophe, Bellance Nadège, Anheim Mathieu, Forlani Sylvie, Mochel Fanny, N'Guyen Karine, Thauvin-Robinet Christel, Verny Christophe, Milea Dan, Lesca Gaëtan, Koenig Michel, Rodriguez Diana, Houcinat Nada, Van-Gils Julien, Durand Christelle M, Guichet Agnès, Barth Magalie, Bonneau Dominique, Convers Philippe, Maillart Elisabeth, Guyant-Marechal Lucie, Hannequin Didier, Fromager Guillaume, Afenjar Alexandra, Chantot-Bastaraud Sandra, Valence Stéphanie, Charles Perrine, Berquin Patrick, Rooryck Caroline, Bouron Julie, Brice Alexis, Lacombe Didier, Rossignol Rodrigue, Stevanin Giovanni, Benard Giovanni, Burglen Lydie, Durr Alexandra, Goizet Cyril, Coupry Isabel |
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia. BMC medical genetics 2015 16 36. Hamza Wahiba, Ali Pacha Lamia, Hamadouche Tarik, Muller Jean, Drouot Nathalie, Ferrat Farida, Makri Samira, Chaouch Malika, Tazir Meriem, Koenig Michel, Benhassine Tra |
Progressive myoclonus epilepsy associated with SACS gene mutations. Neurology. Genetics 2016 Aug 2 (4): e83. Nascimento Fábio A, Canafoglia Laura, Aljaafari Danah, Muona Mikko, Lehesjoki Anna-Elina, Berkovic Samuel F, Franceschetti Silvana, Andrade Danielle |
Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement. Frontiers in neurology 2022 10 13 1005670. Lan Min-Yu, Lu Chin-Song, Wu Shey-Lin, Chen Ying-Fa, Sung Yueh-Feng, Tu Min-Chien, Chang Yung-Y |
Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases. Genes 2023 2 14 (2): . Zaman Qaiser, Khan Muhammad Abbas, Sahar Kalsoom, Rehman Gauhar, Khan Hamza, Rehman Mehwish, Najumuddin , Ahmad Ilyas, Tariq Muhmmad, Muthaffar Osama Yousef, Abdulkareem Angham Abdulrhman, Bibi Fehmida, Naseer Muhammad Imran, Faisal Muhammad Shah, Wasif Naveed, Jelani Musharr |
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