Human Genome Epidemiology Literature Finder
|
Records 1 - 8 (of 8 Records) |
| Query Trace: Disease and CAPN3[original query] |
|---|
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort. Turkish journal of medical sciences 2024 5 54 (1): 86-98. ?zem Olcay ?ahin, Emine Karata?, Mikail Demir, Bü?ra Tan, Hüseyin Per, Yusuf Özkul, Munis Dünd |
- Page last reviewed:Feb 1, 2024
- Content source: