Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia von Cortese, Andrea, Simone, Roberto, Sullivan, Roisin, Vandrovcova, Jana, Tariq, Huma, Yau, Wai Yan, Humphrey, Jack, Jaunmuktane, Zane, Sivakumar, Prasanth, Polke, James, Ilyas, Muhammad, Tribollet, Eloise, Tomaselli, Pedro J., Devigili, Grazia, Callegari, Ilaria, Versino, Maurizio, Salpietro, Vincenzo, Efthymiou, Stephanie, Kaski, Diego, Wood, Nick W., Andrade, Nadja S., Buglo, Elena, Rebelo, Adriana, Rossor, Alexander M., Bronstein, Adolfo, Fratta, Pietro, Marques, Wilson J., Züchner, Stephan, Reilly, Mary M., Houlden, Henry

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The genetics of intellectual disability: advancing technology and gene editing [version 1; peer review: 2 approved] von Ilyas, Muhammad, Mir, Asif, Efthymiou, Stephanie, Houlden, Henry

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A Review of Copy Number Variants in Inherited Neuropathies von Salpietro, Vincenzo, Manole, Andreea, Efthymiou, Stephanie, Houlden, Henry

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The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders von Salpietro, Vincenzo, Zollo, Massimo, Vandrovcova, Jana, Ryten, Mina, Botia, Juan A, Ferrucci, Veronica, Manole, Andreea, Efthymiou, Stephanie, Al Mutairi, Fuad, Bertini, Enrico, Tartaglia, Marco, Houlden, Henry

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Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome von Salpietro, Vincenzo, Lin, Weichun, Delle Vedove, Andrea, Storbeck, Markus, Liu, Yun, Efthymiou, Stephanie, Manole, Andreea, Wiethoff, Sarah, Ye, Qiaohong, Saggar, Anand, McElreavey, Kenneth, Krishnakumar, Shyam S., Pitt, Matthew, Bello, Oscar D., Rothman, James E., Basel‐Vanagaite, Lina, Hubshman, Monika Weisz, Aharoni, Sharon, Manzur, Adnan Y., Wirth, Brunhilde, Houlden, Henry

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Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D -Related Disorder von Pauly, Martje G, Brüggemann, Norbert, Efthymiou, Stephanie, Grözinger, Anne, Diaw, Sokhna Haissatou, Chelban, Viorica, Turchetti, Valentina, Vona, Barbara, Tadic, Vera, Houlden, Henry, Münchau, Alexander, Lohmann, Katja

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Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy von Efthymiou, Stephanie, Dutra‐Clarke, Marina, Maroofian, Reza, Kaiyrzhanov, Rauan, Scala, Marcello, Reza Alvi, Javeria, Sultan, Tipu, Christoforou, Marilena, Tuyet Mai Nguyen, Thi, Mankad, Kshitij, Vona, Barbara, Rad, Aboulfazl, Striano, Pasquale, Salpietro, Vincenzo, Guillen Sacoto, Maria J., Zaki, Maha S., Gleeson, Joseph G., Campeau, Philippe M., Russell, Bianca E., Houlden, Henry

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Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review von D'Onofrio, Gianluca, Riva, Antonella, Di Rosa, Gabriella, Cali', Elisa, Efthymiou, Stephanie, Gitto, Eloisa, Madia, Francesca, Accogli, Andrea, Zara, Federico, Houlden, Henry, Salpietro, Vincenzo, Striano, Pasquale, Soler, Doriette

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A novel variant in the DSE gene leads to Ehlers–Danlos musculocontractural type 2 in a Pakistani family von Ullah, Ikram, Aamir, Muhammad, Ilyas, Muhammad, Ahmed, Akmal, Jelani, Musharraf, Ullah, Wahid, Abbas, Muhammad, Ishfaq, Muhammad, Ali, Fawad, Yip, Janice, Efthymiou, Stephanie, Ahmed, Habib, Houlden, Henry

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Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families von Ilyas, Muhammad, Efthymiou, Stephanie, Salpietro, Vincenzo, Noureen, Nuzhat, Zafar, Faisal, Rauf, Sobiah, Mir, Asif, Houlden, Henry

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Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14 von Chelban, Viorica, Wiethoff, Sarah, Fabian‐Jessing, Bjørn K., Haridy, Nourelhoda A., Khan, Alaa, Efthymiou, Stephanie, Becker, Esther B. E., O'Connor, Emer, Hersheson, Joshua, Newland, Katrina, Hojland, Allan Thomas, Gregersen, Pernille A., Lindquist, Suzanne G., Petersen, Michael B., Nielsen, Jørgen E., Nielsen, Michael, Wood, Nicholas W., Giunti, Paola, Houlden, Henry

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A novel variant of GALC in a familial case of krabbe disease: Insights from structural bioinformatics and molecular dynamics simulation von Ullah, Ikram, Waqas, Muhammad, Ilyas, Muhammad, Halim, Sobia Ahsan, Ahmad, Akmal, Dominik, Natalia, Ullah, Wahid, Abbas, Muhammad, Aamir, Muhammad, Houlden, Henry, Efthymiou, Stephanie, Khan, Ajmal, Al-Harrasi, Ahmed

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Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions von Facchini, Stefano, Dominik, Natalia, Manini, Arianna, Efthymiou, Stephanie, Curro, Riccardo, Rugginini, Bianca, Vegezzi, Elisa, Quartesan, Ilaria, Perrone, Benedetta, Kutty, Shahedah Koya, Galassi Deforie, Valentina, Schnekenberg, Ricardo P, Abati, Elena, Pichiecchio, Anna, Valente, Enza Maria, Tassorelli, Cristina, Reilly, Mary M, Houlden, Henry, Bugiardini, Enrico, Cortese, Andrea

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Human mutations in SLITRK3 implicated in GABAergic synapse development in mice von Efthymiou, Stephanie, Han, Wenyan, Ilyas, Muhammad, Li, Jun, Yu, Yichao, Scala, Marcello, Malintan, Nancy T, Ilyas, Muhammad, Vavouraki, Nikoleta, Mankad, Kshitij, Maroofian, Reza, Rocca, Clarissa, Salpietro, Vincenzo, Lakhani, Shenela, Mallack, Eric J, Palculict, Timothy Blake, Li, Hong, Zhang, Guojun, Zafar, Faisal, Rana, Nuzhat, Takashima, Noriko, Matsunaga, Hayato, Manzoni, Claudia, Striano, Pasquale, Lythgoe, Mark F, Aruga, Jun, Lu, Wei, Houlden, Henry

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Neuroinflammation and Lysosomal Abnormalities Characterise the Essential Role for Oxidation Resistance 1 in the Developing and Adult Cerebellum von Bucknor, Eboni M V, Johnson, Errin, Efthymiou, Stephanie, Alvi, Javeria R, Sultan, Tipu, Houlden, Henry, Maroofian, Reza, Karimiani, Ehsan G, Finelli, Mattéa J, Oliver, Peter L

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Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia von Bettencourt, Conceição, Salpietro, Vincenzo, Efthymiou, Stephanie, Chelban, Viorica, Hughes, Deborah, Pittman, Alan M, Federoff, Monica, Bourinaris, Thomas, Spilioti, Martha, Deretzi, Georgia, Kalantzakou, Triantafyllia, Houlden, Henry, Singleton, Andrew B, Xiromerisiou, Georgia

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Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges von Efthymiou, Stephanie, Lemmers, Richard J L F, Vishnu, Venugopalan Y, Dominik, Natalia, Perrone, Benedetta, Facchini, Stefano, Vegezzi, Elisa, Ravaglia, Sabrina, Wilson, Lindsay, van der Vliet, Patrick J, Mishra, Rinkle, Reyaz, Alisha, Ahmad, Tanveer, Bhatia, Rohit, Polke, James M, Srivastava, Mv Padma, Cortese, Andrea, Houlden, Henry, van der Maarel, Silvère M, Hanna, Michael G, Bugiardini, Enrico

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Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking von Wang, Haicui, Kaçar Bayram, Ayşe, Sprute, Rosanne, Ozdemir, Ozkan, Cooper, Emily, Pergande, Matthias, Efthymiou, Stephanie, Nedic, Ivana, Mazaheri, Neda, Stumpfe, Katharina, Azizi Malamiri, Reza, Shariati, Gholamreza, Zeighami, Jawaher, Bayram, Nurettin, Naghibzadeh, Seyed Kianoosh, Tajik, Mohamad, Yaşar, Mehmet, Sami Güven, Ahmet, Bibi, Farah, Sultan, Tipu, Salpietro, Vincenzo, Houlden, Henry, Per, Hüseyin, Galehdari, Hamid, Shalbafan, Bita, Jamshidi, Yalda, Cirak, Sebahattin

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Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome von Casto, Celeste, Dipasquale, Valeria, Ceravolo, Ida, Gambadauro, Antonella, Aliberto, Emanuela, Galletta, Karol, Granata, Francesca, Ceravolo, Giorgia, Falzia, Emanuela, Riva, Antonella, Piccolo, Gianluca, Cutrupi, Maria Concetta, Striano, Pasquale, Accogli, Andrea, Zara, Federico, Di Rosa, Gabriella, Gitto, Eloisa, Cali, Elisa, Efthymiou, Stephanie, Salpietro, Vincenzo, Houlden, Henry, Chimenz, Roberto

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Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn von Efthymiou, Stephanie, Novis, Luiz E, Koutsis, Georgios, Koniari, Chrysoula, Maroofian, Reza, Turchetti, Valentina, Velonakis, Georgios, Vasconcellos, Luiz F, Raskin, Salmo, Srinivasan, Varunvenkat M, Pagnamenta, Alistair T, Arun, Yaramanchanahalli B, Kinhal, Uddhava V, Gowda, Vykuntaraju K, Teive, Helio A G, Houlden, Henry

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