Human Genome Epidemiology Literature Finder
Records 1 - 25 (of 25 Records) |
Query Trace: CAPN3[original query] |
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Molecular diagnosis in LGMD2A: mutation analysis or protein testing? Human mutation 2004 Jul 24 (1): 52-62. Fanin M, Fulizio L, Nascimbeni A C, Spinazzi M, Piluso G, Ventriglia V M, Ruzza G, Siciliano G, Trevisan C P, Politano L, Nigro V, Angelini |
Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia. American journal of medical genetics. Part A 2004 Mar 125A (2): 152-6. Canki-Klain Nina, Milic Astrid, Kovac Biserka, Trlaja Anuska, Grgicevic Damir, Zurak Niko, Fardeau Michel, Leturcq France, Kaplan Jean-Claude, Urtizberea J Andoni, Politano Luisa, Piluso Giulio, Feingold Jos |
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. Journal of medical genetics 2005 Sep 42 (9): 686-93. Piluso G, Politano L, Aurino S, Fanin M, Ricci E, Ventriglia V M, Belsito A, Totaro A, Saccone V, Topaloglu H, Nascimbeni A C, Fulizio L, Broccolini A, Canki-Klain N, Comi L I, Nigro G, Angelini C, Nigro |
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. Brain : a journal of neurology 2005 Apr 128 (Pt 4): 732-42. Sáenz A, Leturcq F, Cobo A M, Poza J J, Ferrer X, Otaegui D, Camaño P, Urtasun M, Vílchez J, Gutiérrez-Rivas E, Emparanza J, Merlini L, Paisán C, Goicoechea M, Blázquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan J C, Urtizberea J A, Martí-Massó J F, López de Munain |
Calpain-3 mutations in Turkey. European journal of pediatrics 2006 1 165 (5): 293-8. Balci Burcu, Aurino Stefania, Haliloglu Göknur, Talim Beril, Erdem Sevim, Akcören Zuhal, Tan Ersin, Caglar Melda, Richard Isabelle, Nigro Vincenzo, Topaloglu Haluk, Dincer Perv |
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. BMC neurology 2014 14 154. Stehlíková Kristýna, Skálová Daniela, Zídková Jana, Mrázová Lenka, Vondrá?ek Petr, Mazanec Radim, Vohá?ka Stanislav, Haberlová Jana, Hermanová Markéta, Záme?ník Josef, Sou?ek Ond?ej, Ošlejšková Hana, Dvo?á?ková Nina, Sola?ová Pavla, Fajkusová Len |
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India. JIMD reports 2015 1 19 85-93. Bijarnia-Mahay Sunita, Movva Sireesha, Gupta Neerja, Sharma Deepak, Puri Ratna D, Kotecha Udhaya, Saxena Renu, Kabra Madhulika, Mohan Neelam, Verma Ishwar |
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. Clinical genetics 2016 Jul . Park Hyung Jun, Jang Hoon, Kim Ji Hye, Lee Jung Hwan, Shin Ha Young, Kim Seung Min, Park Kee Duk, Yim Sung-Vin, Lee Ji Hyun, Choi Young-Ch |
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. Clinical genetics 2016 May . Fattahi Zohreh, Kalhor Zahra, Fadaee Mahsa, Vazehan Raheleh, Parsimehr Elham, Abolhassani Ayda, Beheshtian Maryam, Zamani Gholamreza, Nafissi Shahriar, Nilipour Yalda, Akbari Mohammad R, Kahrizi Kimia, Kariminejad Ariana, Najmabadi Hosse |
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing. Neurology. Genetics 2015 Dec 1 (4): e36. Izumi Rumiko, Niihori Tetsuya, Takahashi Toshiaki, Suzuki Naoki, Tateyama Maki, Watanabe Chigusa, Sugie Kazuma, Nakanishi Hirotaka, Sobue Gen, Kato Masaaki, Warita Hitoshi, Aoki Yoko, Aoki Masas |
Respiratory chain deficiency in nonmitochondrial disease. Neurology. Genetics 2015 Jun 1 (1): e6. Pyle Angela, Nightingale Helen J, Griffin Helen, Abicht Angela, Kirschner Janbernd, Baric Ivo, Cuk Mario, Douroudis Konstantinos, Feder Lea, Kratz Markus, Czermin Birgit, Kleinle Stephanie, Santibanez-Koref Mauro, Karcagi Veronika, Holinski-Feder Elke, Chinnery Patrick F, Horvath Ri |
Novel genetic loci associated with long-term deterioration in blood lipid concentrations and coronary artery disease in European adults. International journal of epidemiology 2016 Nov . Varga Tibor V, Kurbasic Azra, Aine Mattias, Eriksson Pontus, Ali Ashfaq, Hindy George, Gustafsson Stefan, Luan Jian'an, Shungin Dmitry, Chen Yan, Schulz Christina-Alexandra, Nilsson Peter M, Hallmans Göran, Barroso Inês, Deloukas Panos, Langenberg Claudia, Scott Robert A, Wareham Nicholas J, Lind Lars, Ingelsson Erik, Melander Olle, Orho-Melander Marju, Renström Frida, Franks Paul |
Integrative variants, haplotypes and diplotypes of the CAPN3 and FRMD5 genes and several environmental exposures associate with serum lipid variables. Scientific reports 2017 Mar 7 45119. Guo Tao, Yin Rui-Xing, Pan Ling, Yang Shuo, Miao Liu, Huang Fe |
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. Clinical genetics 2019 3 96 (2): 126-133. Ten Dam Leroy, Frankhuizen Wendy S, Linssen Wim H J P, Straathof Chiara S, Niks Erik H, Faber Karin, Fock Annemarie, Kuks Jan B, Brusse Esther, de Coo René, Voermans Nicol, Verrips Aad, Hoogendijk Jessica E, van der Pol Ludo, Westra Dineke, de Visser Marianne, van der Kooi Anneke J, Ginjaar Ie |
Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2019 12 38 (3): 163-171. Peric Stojan, Stevanovic Jelena, Johnson Katherine, Kosac Ana, Peric Marina, Brankovic Marija, Marjanovic Ana, Jankovic Milena, Banko Bojan, Milenkovic Sanja, Durdic Milica, Bozovic Ivo, Glumac Jelena Nikodinovic, Lavrnic Dragana, Maksimovic Ruzica, Milic-Rasic Vedrana, Rakocevic-Stojanovic Vidosa |
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective. Journal of medical genetics 2020 9 58 (11): 729-736. Zhong Huahua, Zheng Yiming, Zhao Zhe, Lin Pengfei, Xi Jianying, Zhu Wenhua, Lin Jie, Lu Jun, Yu Meng, Zhang Wei, Lv He, Yan Chuanzhu, Hu Jing, Wang Zhaoxia, Lu Jiahong, Zhao Chongbo, Yuan Yun, Luo Sush |
Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India. Journal of neuromuscular diseases 2020 Dec . Pathak Pankaj, Sharma Mehar Chand, Jha Pankaj, Sarkar Chitra, Faruq Mohammed, Jha Prerana, Suri Vaishali, Bhatia Rohit, Singh Sumit, Gulati Sheffali, Husain Mohamm |
Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect. Orphanet journal of rare diseases 2020 1 15 (1): 14. Mojbafan Marzieh, Bahmani Reza, Bagheri Samira Dabbagh, Sharifi Zohreh, Zeinali Siro |
Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing. Frontiers in genetics 2021 12 12 770350. Patel Komal M, Bhatt Arpan D, Shah Krati, Waghela Bhargav N, Pandit Ramesh J, Sheth Harsh, Joshi Chaitanya G, Joshi Madhvi |
Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb-Girdle Muscular Dystrophy Patients. Frontiers in neuroscience 2021 11 15 692482. Macias Anna, Fichna Jakub Piotr, Topolewska Malgorzata, R?dowicz Maria J, Kaminska Anna M, Kostera-Pruszczyk An |
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey. Journal of neuromuscular diseases 2021 1 8 (2): 261-272. Ten Dam L, de Visser M, Ginjaar Ieke B, van Duyvenvoorde Hermine A, van Koningsbruggen Silvana, van der Kooi Anneke |
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach. Human mutation 2021 Aug . Mikó Ágnes, Kaposi Ambrus, Schnabel Karolina, Seidl Dániel, Tory Kálm |
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population. Genes 2022 6 13 (6): . Cerino Mathieu, González-Hormazábal Patricio, Abaji Mario, Courrier Sebastien, Puppo Francesca, Mathieu Yves, Trangulao Alejandra, Earle Nicholas, Castiglioni Claudia, Díaz Jorge, Campero Mario, Hughes Ricardo, Vargas Carmen, Cortés Rocío, Kleinsteuber Karin, Acosta Ignacio, Urtizberea J Andoni, Lévy Nicolas, Bartoli Marc, Krahn Martin, Jara Lilian, Caviedes Pablo, Gorokhova Svetlana, Bevilacqua Jorge |
Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India. Global medical genetics 2022 2 9 (1): 34-41. Ganaraja Valakunja H, Polavarapu Kiran, Bardhan Mainak, Preethish-Kumar Veeramani, Leena Shingavi, Anjanappa Ram M, Vengalil Seena, Nashi Saraswati, Arunachal Gautham, Gunasekaran Swetha, Mohan Dhaarini, Raju Sanita, Unnikrishnan Gopikrishnan, Huddar Akshata, Ravi-Kiran Valasani, Thomas Priya T, Nalini Atchayar |
Genetic findings in Czech patients with limb girdle muscular dystrophy. Clinical genetics 2023 8 . Jana Zídková, Tereza Kramá?ová, Johana Kop?ilová, Kamila Réblová, Jana Haberlová, Radim Mazanec, Stanislav Vohá?ka, Andrea G?ego?ová, Martina Langová, Tomáš Honzík, Jana Šoukalová, Hana Ošlejšková, Pavla Sola?ová, Emílie Vyhnálková, Lenka Fajkuso |
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- Page last updated:Apr 22, 2024
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