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PLoS ONE, ISSN 1932-6203, 01/2014, Volume 9, Issue 1, p. e86340
Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding paraplegin, a protein located at the inner mitochondrial... 
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA | REAL-TIME PCR | INDIVIDUAL CELLS | SPINOCEREBELLAR ATAXIA | SPG7 MUTATIONS | MULTIDISCIPLINARY SCIENCES | OPTIC ATROPHY | RATING-SCALE | M-AAA PROTEASE | MTDNA MAINTENANCE | OPA1 MUTATIONS | Metalloendopeptidases - genetics | Spastic Paraplegia, Hereditary - genetics | Sequence Deletion | ATPases Associated with Diverse Cellular Activities | Spastic Paraplegia, Hereditary - diagnosis | Brain - physiopathology | Humans | Middle Aged | DNA, Mitochondrial | Male | Electroencephalography | Magnetic Resonance Imaging | Biopsy | Pedigree | Muscle, Skeletal - physiopathology | Brain - pathology | Female | Aged | Consanguinity | Electromyography | Muscle, Skeletal - pathology | Mitochondria, Muscle - genetics | Proteins | Medical research | Paralysis, Spastic | Genomics | Medicine, Experimental | Muscles | Family | Genetic aspects | Mitochondrial DNA | Pathogenesis | DNA damage | Homeostasis | Genomes | Kinases | Fibers | Electron transport chain | Paraplegia | Missense mutation | Genetics | Ataxia | Paralysis | Spastic paraplegia | Damage accumulation | Deoxyribonucleic acid--DNA | Spasticity | Patients | Skeletal muscle | Hereditary diseases | Medicine | Studies | Neurology | Brain research | Hospitals | Ophthalmoplegia | Diagnostic systems | Clinical medicine | Mutation | Electron transport | Deoxyribonucleic acid | DNA
Journal Article
Epilepsia, ISSN 0013-9580, 08/2018, Volume 59, Issue 8, pp. 1567 - 1576
Objective: Ketogenic diets reduce seizures in children with drug-resistant epilepsy. Whether adults benefit from similar treatment has not been clarified. We... 
treatment | focal epilepsy | modified Atkins diet | ketogenic diet | adults | THERAPY | EFFICACY | INTRACTABLE EPILEPSY | CLINICAL NEUROLOGY | Drugs | Atkins diet | Epilepsy | Clinical trials | Adults | Seizures (Medicine) | Drug resistance | Motivation | Diet | Children | Antiepileptic agents | Patients | Seizures
Journal Article
Acta ophthalmologica, ISSN 1755-375X, 08/2019
The purpose of this study was to characterize current clinical and genetic knowledge of patients with inherited retinal disease in Norway and give an estimate... 
Journal Article
Journal Article
Bioinformatics, ISSN 1367-4803, 05/2016, Volume 32, Issue 10, pp. 1592 - 1594
A Summary: FILTUS is a stand-alone tool for working with annotated variant files, e.g. when searching for variants causing Mendelian disease. Very flexible in... 
HOMOZYGOSITY | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | MUTATION | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY | SEQUENCING DATA | TOOL | Exome | Programming Languages | Software | Zygote | Humans | Automation | Filtration | Filtering | Searching | Detectors | Mapping | Source code | Bioinformatics | Applications Notes
Journal Article
Frontiers in Endocrinology, ISSN 1664-2392, 09/2019, Volume 10
Background: Underlying causes of adrenal insufficiency include congenital adrenal hyperplasia (CAH) and autoimmune adrenocortical destruction leading to... 
adrenal insufficiency | autoimmune adrenalitis | autoimmune Addison's disease | congenital adrenal hyperplasia | 3β-hydroxysteroid dehydrogenase type 2 deficiency
Journal Article
Journal Article
by Appenzeller, Silke and Balling, Rudi and Barisic, Nina and Baulac, Stéphanie and Caglayan, Hande and Craiu, Dana and De Jonghe, Peter and Depienne, Christel and Dimova, Petia and Djémié, Tania and Gormley, Padhraig and Guerrini, Renzo and Helbig, Ingo and Hjalgrim, Helle and Hoffman-Zacharska, Dorota and Jähn, Johanna and Klein, Karl Martin and Koeleman, Bobby and Komarek, Vladimir and Krause, Roland and Kuhlenbäumer, Gregor and Leguern, Eric and Lehesjoki, Anna-Elina and Lemke, Johannes R and Lerche, Holger and Linnankivi, Tarja and Marini, Carla and May, Patrick and Møller, Rikke S and Muhle, Hiltrud and Pal, Deb and Palotie, Aarno and Pendziwiat, Manuela and Robbiano, Angela and Roelens, Filip and Rosenow, Felix and Selmer, Kaja and Serratosa, Jose M and Sisodiya, Sanjay and Stephani, Ulrich and Sterbova, Katalin and Striano, Pasquale and Suls, Arvid and Talvik, Tiina and von Spiczak, Sarah and Weber, Yvonne and Weckhuysen, Sarah and Zara, Federico and Abou-Khalil, Bassel and Alldredge, Brian K and Andermann, Eva and Andermann, Frederick and Amron, Dina and Bautista, Jocelyn F and Berkovic, Samuel F and Bluvstein, Judith and Boro, Alex and Cascino, Gregory and Consalvo, Damian and Crumrine, Patricia and Devinsky, Orrin and Dlugos, Dennis and Epstein, Michael P and Fiol, Miguel and Fountain, Nathan B and French, Jacqueline and Friedman, Daniel and Geller, Eric B and Glauser, Tracy and Glynn, Simon and Haas, Kevin and Haut, Sheryl R and Hayward, Jean and Helmers, Sandra L and Joshi, Sucheta and Kanner, Andres and Kirsch, Heidi E and Knowlton, Robert C and Kossoff, Eric H and Kuperman, Rachel and Kuzniecky, Ruben and Lowenstein, Daniel H and McGuire, Shannon M and Motika, Paul V and Novotny, Edward J and Ottman, Ruth and Paolicchi, Juliann M and Parent, Jack and Park, Kristen and Poduri, Annapurna and Sadleir, Lynette and Scheffer, Ingrid E and Shellhaas, Renée A and Sherr, Elliott and Shih, Jerry J and Singh, Rani and Sirven, Joseph and Smith, Michael C and Sullivan, Joe and Thio, Liu Lin and ... and Epi4K Consortium and EuroEPINOMICS-RES Consortium and Epilepsy Phenome Genome Project and Epilepsy Phenome/Genome Project
The American Journal of Human Genetics, ISSN 0002-9297, 10/2014, Volume 95, Issue 4, pp. 360 - 370
Journal Article
ISSN 1932-6203, 2014
Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding paraplegin, a protein located at the inner mitochondrial... 
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 05/2017, Volume 25, Issue 5, pp. 552 - 559
Journal Article