PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation von Chelban, Viorica, Wilson, Matthew P., Warman Chardon, Jodi, Vandrovcova, Jana, Zamba‐Papanicolaou, Eleni, Pope, Simon, Conte, Maria R., Abis, Giancarlo, Liu, Yo‐Tsen, Tribollet, Eloise, Haridy, Nourelhoda A., Botía, Juan A., Ryten, Mina, Nicolaou, Paschalis, Minaidou, Anna, Kernohan, Kristin D., Eaton, Alison, Bello, Oscar, Bremner, Fion, Cordivari, Carla, Reilly, Mary M., Foiani, Martha, Zetterberg, Henrik, Heales, Simon J. R., Rothman, James E., Clayton, Peter T., Houlden, Henry, Kriouile, Yamna, Aguennouz, Mhammed, Groppa, Stanislav, Marinova Karashova, Blagovesta, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez‐Dueñas, Belen, Di Rosa, Gabriella, Goraya, Jatinder S., Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Pineda‐Marfa, Mercedes, Ferrari, Michel D., van den Maagdenberg, Arn M J M, Verrotti, Alberto, Marseglia, Giangluigi, García‐Silva, Mayte, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Boles, Richard, Giunti, Paola, Chelban, Viorica, Salpietro, Vincenzo, Efthymiou, Stephanie, Kullmann, Dimitri, Kaiyrzhanov, Rauan, Sullivan, Roisin, Khan, Alaa Matooq, Yau, Wai Yan, Papanicolaou, Eleni Zamba, Maqbool, Shazia, Rana, Nuzhat Noureen, Atawneh, Osama, Shaikh, Farooq, Koutsis, George, Breza, Marianthi, Mangano, Salvatore, Scuderi, Carmela, Borgione, Eugenia, Stojkovic, Tanya, Torti, Erin, Zollo, Massimi, Dauvilliers, Yves A., Rizig, Mie, Okubadejo, Njideka U., Ojo, Oluwadamilola O., Wahab, Kolawole, Bello, Abiodun H., Obiabo, Yahaya, Nwazor, Ernest, Iyagba, Alagoma, Taiwo, Lolade, Komolafe, Morenikeji, Oguntunde, Olapeju, Senkevich, Konstantin, Haridy, Nourelhoda, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Isrofilov, Maksud, Khachatryan, Samson, Silvestri, Gabriella, Bourinaris, Thomas, Fidani, Liana

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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders von Salpietro, Vincenzo, Dixon, Christine L., Guo, Hui, Bello, Oscar D., Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andreas, Chen, Sharon, Pisani, Laura, Bettencourt, Conceicao, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Ferrero, Giovanni Battista, Armstrong-Moron, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin G., Santiago-Sim, Teresa, Person, Richard E., Cho, Megan T., Willaert, Rebecca, Yoo, Yongjin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael A., Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad M., Jaeger, Bregje, Schneider, Amy L., Boysen, Katja, Muir, Alison M., Myers, Candace T., Gavrilova, Ralitza H., Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric W., Dyment, David, Osmond, Matthew, Parellada, Mara, Llorente, Cloe, Gonzalez-Peñas, Javier, Carracedo, Angel, Van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Heron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John N., De Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Boris, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather C., Scheffer, Ingrid E., Clayton-Smith, Jill, Macaya, Alfons, Rothman, James E., Eichler, Evan E., Kullmann, Dimitri M., Houlden, Henry

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Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders von Bourinaris, T, Athanasiou, A, Efthymiou, S, Wiethoff, S, Salpietro, V, Houlden, H

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Aggregation-resistant alpha-synuclein tetramers are reduced in the blood of Parkinson’s patients von de Boni, L, Wallis, A, Hays Watson, A, Ruiz-Riquelme, A, Leyland, L.-A, Bourinaris, T, Hannaway, N, Wüllner, U, Peters, O, Priller, J, Falkenburger, B.H, Wiltfang, J, Bähr, M, Zerr, I, Bürger, K, Perneczky, R, Teipel, S, Löhle, M, Hermann, W, Schott, B.-H, Brockmann, K, Spottke, A, Haustein, K, Breuer, P, Houlden, H, Weil, R.S, Bartels, T

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Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco von Bibi, F, Ullah, A, Bourinaris, T, Efthymiou, S, Kriouile, Y, Sultan, T, Haider, S, Salpietro, V, Houlden, H, Kaukab Raja, G

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Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approach von Ilyas, M, Salpietro, V, Efthymiou, S, Bourinaris, T, Tariq, A, Imdad, M, Ahmad, A, Ahmad, H, Houlden, H

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SORL1 mutation in a Greek family with Parkinson's disease and dementia von Xiromerisiou, G, Bourinaris, T, Houlden, H, Lewis, PA, Senkevich, K, Hammer, M, Federoff, M, Khan, A, Spanaki, C, Hadjigeorgiou, GM, Bonstanjopoulou, S, Fidani, L, Ermolaev, A, Gan-Or, Z, Singleton, A, Vandrovcova, J, Hardy, J

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Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS von Sokratous, M, Lucia, S, Bourinaris, T, Marogianni, C, Arnaoutoglou, M, Patrikiou, E, Ralli, S, Markou, A, Dardiotis, E, Houlden, H, Hadjigeorgiou, GM, Xiromerisiou, G

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Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project von Bourinaris, T, Smedley, D, Cipriani, V, Sheikh, I, Athanasiou-Fragkouli, A, Chinnery, P, Morris, H, Real, R, Harrison, V, Reid, E, Wood, N, Genomics England Research Consortium, Vandrovcova, J, Houlden, H, Tucci, A

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A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia von Efthymiou, S, Breza, M, Bourinaris, T, Maroofian, R, Athanasiou-Fragkouli, A, Tzartos, J, Velonakis, G, Karavasilis, E, Angelopoulou, G, Kasselimis, D, Potagas, C, Stefanis, L, Karadima, G, Koutsis, G, Houlden, H

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Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease von Chelban, V, Breza, M, Szaruga, M, Vandrovcova, J, Murphy, D, Lee, C-J, Alikhwan, S, Bourinaris, T, Vavougios, G, Ilyas, M, Halim, SA, Al-Harrasi, A, Kartanou, C, Ronald, C, Blumcke, I, Alexoudi, A, Gatzonis, S, Stefanis, L, Karadima, G, Wood, NW, Chávez-Gutiérrez, L, Hardy, J, Houlden, H, Koutsis, G

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Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia von Bibi, F, Efthymiou, S, Bourinaris, T, Tariq, A, Zafar, F, Rana, N, Salpietro, V, Houlden, H, Raja, GK, SYNaPS Study Group, Saeed, S, Minhas, NM

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Neuronal intranuclear inclusion disease is genetically heterogeneous von Chen, Z, Yan Yau, W, Jaunmuktane, Z, Tucci, A, Sivakumar, P, Gagliano Taliun, SA, Turner, C, Efthymiou, S, Ibáñez, K, Sullivan, R, Bibi, F, Athanasiou-Fragkouli, A, Bourinaris, T, Zhang, D, Revesz, T, Lashley, T, DeTure, M, Dickson, DW, Josephs, KA, Gelpi, E, Kovacs, GG, Halliday, G, Rowe, DB, Blair, I, Tienari, PJ, Suomalainen, A, Fox, NC, Wood, NW, Lees, AJ, Haltia, MJ, Genomics England Research Consortium, Hardy, J, Ryten, M, Vandrovcova, J, Houlden, H

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Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia von Bettencourt, C, Salpietro, V, Efthymiou, S, Chelban, V, Hughes, D, Pittman, AM, Federoff, M, Bourinaris, T, Spilioti, M, Deretzi, G, Kalantzakou, T, Houlden, H, Singleton, AB, Xiromerisiou, G

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C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature von Bourinaris, Thomas, Houlden, Henry

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Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking von Behne, Robert, Teinert, Julian, Wimmer, Miriam, D’Amore, Angelica, Davies, Alexandra K, Scarrott, Joseph M, Eberhardt, Kathrin, Brechmann, Barbara, Chen, Ivy Pin-Fang, Buttermore, Elizabeth D, Barrett, Lee, Dwyer, Sean, Chen, Teresa, Hirst, Jennifer, Wiesener, Antje, Segal, Devorah, Martinuzzi, Andrea, Duarte, Sofia T, Bennett, James T, Bourinaris, Thomas, Houlden, Henry, Roubertie, Agathe, Santorelli, Filippo M, Robinson, Margaret, Azzouz, Mimoun, Lipton, Jonathan O, Borner, Georg H H, Sahin, Mustafa, Ebrahimi-Fakhari, Darius

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Some pathogenic SETX variants are partially conserved during evolution von Tariq, Huma, Tariq, Iqra, Bourinaris, Thomas, Houlden, Henry, Naz, Sadaf

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Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders von Bourinaris, Thomas, Athanasiou, Alkyoni, Efthymiou, Stephanie, Wiethoff, Sarah, Salpietro, Vincenzo, Houlden, Henry

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Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project von Bourinaris, Thomas, Smedley, Damian, Cipriani, Valentina, Sheikh, Isabella, Athanasiou-Fragkouli, Alkyoni, Chinnery, Patrick, Morris, Huw, Real, Raquel, Harrison, Victoria, Reid, Evan, Wood, Nicholas, Vandrovcova, Jana, Houlden, Henry, Tucci, Arianna

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Aggregation-resistant alpha-synuclein tetramers are reduced in the blood of Parkinson’s patients von de Boni, Laura, Wallis, Amber, Hays Watson, Aurelia, Ruiz-Riquelme, Alejandro, Leyland, Louise-Ann, Bourinaris, Thomas, Hannaway, Naomi, Wüllner, Ullrich, Peters, Oliver, Priller, Josef, Falkenburger, Björn H, Wiltfang, Jens, Bähr, Mathias, Zerr, Inga, Bürger, Katharina, Perneczky, Robert, Teipel, Stefan, Löhle, Matthias, Hermann, Wiebke, Schott, Björn-Hendrik, Brockmann, Kathrin, Spottke, Annika, Haustein, Katrin, Breuer, Peter, Houlden, Henry, Weil, Rimona S, Bartels, Tim

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