Human Genome Epidemiology Literature Finder
Rare Diseases
|
Records 1 - 19 (of 19 Records) |
| Query Trace: Neuronal Ceroid Lipofuscinosis[original query] |
|---|
| A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. Biochemical and biophysical research communications 2005 1 327 (2): 541-7. Katz Martin L, Khan Shahnawaz, Awano Tomoyuki, Shahid S Adam, Siakotos Aristotle N, Johnson Gary |
| Genotype-phenotype analyses of classic neuronal ceroid lipofuscinosis (NCLs): genetic predictions from clinical and pathological findings. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2006 Feb 38 (1): 41-8. Ju Weina, Wronska Anetta, Moroziewicz Dorota N, Zhong Rocksheng, Wisniewski Natalia, Jurkiewicz Anna, Fiory Michael, Wisniewski Krystyna E, Johnston Lance, Brown W Ted, Zhong Nanbe |
| Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain : a journal of neurology 2009 Mar 132 (Pt 3): 810-9. Kousi Maria, Siintola Eija, Dvorakova Lenka, Vlaskova Hana, Turnbull Julie, Topcu Meral, Yuksel Deniz, Gokben Sarenur, Minassian Berge A, Elleder Milan, Mole Sara E, Lehesjoki Anna-Eli |
| Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). Developmental medicine and child neurology 2010 Jul 52 (7): 637-43. Adams Heather R, Beck Christopher A, Levy Erika, Jordan Rachel, Kwon Jennifer M, Marshall Frederick J, Vierhile Amy, Augustine Erika F, de Blieck Elisabeth A, Pearce David A, Mink Jonathan |
| CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. Neurology 2010 Feb 74 (7): 565-71. Xin W, Mullen T E, Kiely R, Min J, Feng X, Cao Y, O'Malley L, Shen Y, Chu-Shore C, Mole S E, Goebel H H, Sims |
Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.
American journal of hematology 2012 Apr 87 (4): 377-83. Zhang Clarence K, Stein Philip B, Liu Jun, Wang Zuoheng, Yang Ruhua, Cho Judy H, Gregersen Peter K, Aerts Johannes M F G, Zhao Hongyu, Pastores Gregory M, Mistry Pramod |
| Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. Orphanet journal of rare diseases 2013 8 . Santorelli FM, Garavaglia B, Cardona F, Nardocci N, Bernardina BD, Sartori S, Suppiej A, Bertini E, Claps D, Battini R, Biancheri R, Filocamo M, Pezzini F, Simonati A |
| Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. Autophagy 2015 11 (6): 928-38. Di Fruscio Giuseppina, Schulz Angela, De Cegli Rossella, Savarese Marco, Mutarelli Margherita, Parenti Giancarlo, Banfi Sandro, Braulke Thomas, Nigro Vincenzo, Ballabio Andr |
| Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis. Gene 2016 Aug . Sleat David E, Gedvilaite Erika, Zhang Yeting, Lobel Peter, Xing Jinchu |
| Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2017 Nov 1-4. Hewson Stacy, Brunga Ledia, Ojeda Matilde Fernandez, Imhof Elizabeth, Patel Jaina, Zak Maria, Donner Elizabeth J, Kobayashi Jeff, Salomons Gajja S, Mercimek-Andrews Saad |
| Clinical implementation of gene panel testing for lysosomal storage diseases. Molecular genetics & genomic medicine 2018 12 7 (2): e00527. Gheldof Alexander, Seneca Sara, Stouffs Katrien, Lissens Willy, Jansen Anna, Laeremans Hilde, Verloo Patrick, Schoonjans An-Sofie, Meuwissen Marije, Barca Diana, Martens Geert, De Meirleir Lin |
| Linkage analysis of multiplex Caribbean Hispanic families loaded for unexplained early-onset cases identifies novel Alzheimer's disease loci. Alzheimer's & dementia (Amsterdam, Netherlands) 2018 11 10 554-562. Cheng Rong, Tang Min, Martinez Izri, Ayodele Temitope, Baez Penelope, Reyes-Dumeyer Dolly, Lantigua Rafael, Medrano Martin, Jimenez-Velazquez Ivonne, Lee Joseph H, Beecham Gary W, Reitz Christia |
| Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation. Seizure 2019 5 69 180-185. Chen Zi-Rong, Liu De-Tian, Meng Heng, Liu Liu, Bian Wen-Jun, Liu Xiao-Rong, Zhu Wei-Wen, He Yong, Wang Jie, Tang Bin, Su Tao, Yi Yong-Ho |
| Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers. Molecular genetics & genomic medicine 2020 5 8 (7): e1228. Kozina Anastasiya A, Okuneva Elena G, Baryshnikova Natalia V, Kondakova Olga B, Nikolaeva Ekaterina A, Fedoniuk Inessa D, Mikhailova Svetlana V, Krasnenko Anna Y, Stetsenko Ivan F, Plotnikov Nikolay A, Klimchuk Olesia I, Popov Yaroslav V, Surkova Ekaterina I, Shatalov Peter A, Rakitko Alexander S, Ilinsky Valery |
| A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5. BMC medical genetics 2020 5 21 (1): 100. Li Wei, Fan Xin, Zhang Yue, Huang Limei, Jiang Tingting, Qin Zailong, Su Jiasun, Luo Jingrong, Yi Shang, Zhang Shujie, Shen Yipi |
| Defective Lysosomal Lipid Catabolism as a Common Pathogenic Mechanism for Dementia. Neuromolecular medicine 2021 2 23 (1): 1-24. Lee Jun Yup, Marian Oana C, Don Anthony |
| A novel CLN5 mutation in Turkish patient with variant late-onset neuronal ceroid lipofuscinosis and recurrent fractures that causes severe morbidity. Neurocase 2021 10 27 (6): 437-440. Duz Mehmet Bugrah |
| Heterozygosity for Neuronal Ceroid Lipofuscinosis predisposes to Bipolar Disorder. Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999) 2022 7 . Privitera Flavia, Trusso Maria Allegra, Valentino Floriana, Doddato Gabriella, Fallerini Chiara, Brunelli Giulia, D'Aurizio Romina, Furini Simone, Goracci Arianna, Fagiolini Andrea, Mari Francesca, Renieri Alessandra, Ariani Frances |
| Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation -A single centre experience of 56 cases. Journal of the neurological sciences 2024 12 468 123338. Sangeeth Thuppanattumadam Ananthasubramanian, Hansashree Padmanabha, C M Ravindranadh, Raghavendra Kenchiah, Saloni Bhatia, Rashmi Santhoshkumar, Tumulu Seetam Kumar, Ramya Sukrutha, Gautham Arunachal, K Karthik, Madhu Nagappa, Saraswati Nashi, Rohan Mahale, L G Viswananthan, M Pooja, A R Nagaraj, J Ravi Shekar, T C Yasha, Anita Mahadevan, Sanjib Sin |
- Page last reviewed:Feb 1, 2024
- Content source: