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Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation
Peña‐Quintana, L., Scherer, G., Curbelo‐Estévez, M.L., Jiménez‐Acosta, F., Hartmann, B., La Roche, F., Meavilla‐Olivas, S., Pérez‐Cerdá, C., García‐Segarra, N., Giguère, Y., Huppke, P., Mitchell, G.A., Mönch, E., Trump, D., Vianey‐Saban, C., Trimble, E.R., Vitoria‐Miñana, I., Reyes‐Suárez, D., Ramírez‐Lorenzo, T., Tugores, A.
Published in Clinical genetics (01.09.2017)
Published in Clinical genetics (01.09.2017)
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Novel APOE Mutation in a Moroccan Subject Suffering from Alzheimer Disease: A Case Study and Exploration of Pathogenic Implication
Razouqi, Youssef, El Bouchikhi, Ihssane, El-Abid, Hassan, Baammi, Soukayna, Nedbour, Ayoub, Touhami Ahami, Ahmed Omar, El Allali, Achraf, Bouguenouch, Laila
Published in Alzheimer disease and associated disorders (01.10.2023)
Published in Alzheimer disease and associated disorders (01.10.2023)
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Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation
Flume, Patrick A, Liou, Theodore G, Borowitz, Drucy S, Li, Haihong, Yen, Karl, Ordoñez, Claudia L, Geller, David E
Published in Chest (01.09.2012)
Published in Chest (01.09.2012)
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F02 A cluster of HD in italy with several subjects carrying cag expansion homozygousity in different generations and genetic risk over 50
Squitieri, Ferdinando, Dema, Maria Giovanna, Borrelli, Cristiana, Consoli, Federica, De Luca, Alessandro, Migliore, Simone
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2018)
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2018)
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Epigenetic and immunological indicators of IPEX disease in subjects with FOXP3 gene mutation
Narula, Mansi, Lakshmanan, Uma, Borna, Simon, Schulze, Janika J., Holmes, Tyson H., Harre, Nicholas, Kirkey, Matthew, Ramachandran, Akshaya, Tagi, Veronica Maria, Barzaghi, Federica, Grunebaum, Eyal, Upton, Julia E.M., Hong-Diep Kim, Vy, Wysocki, Christian, Dimitriades, Victoria R., Weinberg, Kenneth, Weinacht, Katja G., Gernez, Yael, Sathi, Bindu K., Schelotto, Magdalena, Johnson, Matthew, Olek, Sven, Sachsenmaier, Christoph, Roncarolo, Maria-Grazia, Bacchetta, Rosa
Published in Journal of allergy and clinical immunology (01.01.2023)
Published in Journal of allergy and clinical immunology (01.01.2023)
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Extracellular Prion Protein Aggregates in Nine Gerstmann–Sträussler–Scheinker Syndrome Subjects with Mutation P102L: A Micromorphological Study and Comparison with Literature Data
Jankovska, Nikol, Matej, Radoslav, Olejar, Tomas
Published in International journal of molecular sciences (10.12.2021)
Published in International journal of molecular sciences (10.12.2021)
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Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation
Clancy, J P, Rowe, Steven M, Accurso, Frank J, Aitken, Moira L, Amin, Raouf S, Ashlock, Melissa A, Ballmann, Manfred, Boyle, Michael P, Bronsveld, Inez, Campbell, Preston W, De Boeck, Kris, Donaldson, Scott H, Dorkin, Henry L, Dunitz, Jordan M, Durie, Peter R, Jain, Manu, Leonard, Anissa, McCoy, Karen S, Moss, Richard B, Pilewski, Joseph M, Rosenbluth, Daniel B, Rubenstein, Ronald C, Schechter, Michael S, Botfield, Martyn, Ordoñez, Claudia L, Spencer-Green, George T, Vernillet, Laurent, Wisseh, Steve, Yen, Karl, Konstan, Michael W
Published in Thorax (01.01.2012)
Published in Thorax (01.01.2012)
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‘North Sea’ progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation
Boissé Lomax, Lysa, Bayly, Marta A., Hjalgrim, Helle, Møller, Rikke S., Vlaar, Annemarie M., Aaberg, Kari M., Marquardt, Iris, Gandolfo, Luke C., Willemsen, Michèl, Kamsteeg, Erik-Jan, O’Sullivan, John D., Korenke, G. Christoph, Bloem, Bastiaan R., de Coo, Irenaeus F., Verhagen, Judith M. A., Said, Ines, Prescott, Trine, Stray-Pedersen, Asbjørg, Rasmussen, Magnhild, Vears, Danya F., Lehesjoki, Anna-Elina, Corbett, Mark A., Bahlo, Melanie, Gecz, Jozef, Dibbens, Leanne M., Berkovic, Samuel F.
Published in Brain (London, England : 1878) (01.04.2013)
Published in Brain (London, England : 1878) (01.04.2013)
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Leber's Hereditary Optic Neuropathy Arising From the Synergy Between ND1 3635G>A Mutation and Mitochondrial YARS2 Mutations
Jin, Xiaofen, Zhang, Juanjuan, Yi, Qiuzi, Meng, Feilong, Yu, Jialing, Ji, Yanchun, Mo, Jun Q., Tong, Yi, Jiang, Pingping, Guan, Min-Xin
Published in Investigative ophthalmology & visual science (01.06.2021)
Published in Investigative ophthalmology & visual science (01.06.2021)
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Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials
Maguire, Albert M, Russell, Stephen, Wellman, Jennifer A, Chung, Daniel C, Yu, Zi-Fan, Tillman, Amy, Wittes, Janet, Pappas, Julie, Elci, Okan, Marshall, Kathleen A, McCague, Sarah, Reichert, Hannah, Davis, Maria, Simonelli, Francesca, Leroy, Bart P, Wright, J Fraser, High, Katherine A, Bennett, Jean
Published in Ophthalmology (Rochester, Minn.) (01.09.2019)
Published in Ophthalmology (Rochester, Minn.) (01.09.2019)
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Human blood PIG‐A mutation and micronucleated reticulocyte flow cytometric assays: Method optimization and evaluation of intra‐ and inter‐subject variation
Torous, Dorothea K., Avlasevich, Svetlana L., Khattab, Mona G., Baig, Ayesha, Saubermann, Lawrence J., Chen, Yuhchyau, Bemis, Jeffrey C., Lovell, David P., Walker, Vernon E., MacGregor, James T., Dertinger, Stephen D.
Published in Environmental and molecular mutagenesis (01.10.2020)
Published in Environmental and molecular mutagenesis (01.10.2020)
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An Automated Toolbox to Predict Single Subject Atrophy in Presymptomatic Granulin Mutation Carriers
Premi, Enrico, Costa, Tommaso, Gazzina, Stefano, Benussi, Alberto, Cauda, Franco, Gasparotti, Roberto, Archetti, Silvana, Alberici, Antonella, van Swieten, John C, Sanchez-Valle, Raquel, Moreno, Fermin, Santana, Isabel, Laforce, Robert, Ducharme, Simon, Graff, Caroline, Galimberti, Daniela, Masellis, Mario, Tartaglia, Carmela, Rowe, James B, Finger, Elizabeth, Tagliavini, Fabrizio, de Mendonça, Alexandre, Vandenberghe, Rik, Gerhard, Alexander, Butler, Chris R, Danek, Adrian, Synofzik, Matthis, Levin, Johannes, Otto, Markus, Ghidoni, Roberta, Frisoni, Giovanni, Sorbi, Sandro, Peakman, Georgia, Todd, Emily, Bocchetta, Martina, Rohrer, Johnathan D, Borroni, Barbara
Published in Journal of Alzheimer's disease (01.01.2022)
Published in Journal of Alzheimer's disease (01.01.2022)
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Mixed Pathologies in a Subject with a Novel PSEN1 G206R Mutation
Libard, Sylwia, Giedraitis, Vilmantas, Kilander, Lena, Ingelsson, Martin, Alafuzoff, Irina
Published in Journal of Alzheimer's disease (01.01.2022)
Published in Journal of Alzheimer's disease (01.01.2022)
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Defective WNT signaling may protect from articular cartilage deterioration – a quantitative MRI study on subjects with a heterozygous WNT1 mutation
Lehtovirta, S., Mäkitie, R.E., Casula, V., Haapea, M., Niinimäki, J., Niinimäki, T., Peuna, A., Lammentausta, E., Mäkitie, O., Nieminen, M.T.
Published in Osteoarthritis and cartilage (01.11.2019)
Published in Osteoarthritis and cartilage (01.11.2019)
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Evaluation of glycemic status and subclinical atherosclerosis in familial hypercholesterolemia subjects with or without LDL receptor mutation
Di Giacomo Barbagallo, Francesco, Bosco, Giosiana, Di Marco, Maurizio, Scilletta, Sabrina, Miano, Nicoletta, Musmeci, Marco, Martedì, Marina, González-Lleó, Ana M., Ibarretxe, Daiana, De Francesco, Ernestina Marianna, Malaguarnera, Roberta, Di Pino, Antonino, Masana, Luís, Purrello, Francesco, Piro, Salvatore, Scicali, Roberto
Published in Cardiovascular diabetology (20.03.2025)
Published in Cardiovascular diabetology (20.03.2025)
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Lipid-lowering response in subjects with the p.(Leu167del) mutation in the APOE gene
Bea, Ana M., Lamiquiz-Moneo, Itziar, Marco-Benedí, Victoria, Mateo-Gallego, Rocio, Pérez-Calahorra, Sofía, Jarauta, Estíbaliz, Martín, César, Cenarro, Ana, Civeira, Fernando
Published in Atherosclerosis (01.03.2019)
Published in Atherosclerosis (01.03.2019)
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Risk prediction of ventricular arrhythmias and myocardial function in Lamin A/C mutation positive subjects
Hasselberg, Nina E., Edvardsen, Thor, Petri, Helle, Berge, Knut E., Leren, Trond P., Bundgaard, Henning, Haugaa, Kristina H.
Published in Europace (London, England) (01.04.2014)
Published in Europace (London, England) (01.04.2014)
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