RFC1 expansions are a common cause of idiopathic sensory neuropathy by Currò, Riccardo, Salvalaggio, Alessandro, Tozza, Stefano, Gemelli, Chiara, Dominik, Natalia, Galassi Deforie, Valentina, Magrinelli, Francesca, Castellani, Francesca, Vegezzi, Elisa, Businaro, Pietro, Callegari, Ilaria, Pichiecchio, Anna, Cosentino, Giuseppe, Alfonsi, Enrico, Marchioni, Enrico, Colnaghi, Silvia, Gana, Simone, Valente, Enza Maria, Tassorelli, Cristina, Efthymiou, Stephanie, Facchini, Stefano, Carr, Aisling, Laura, Matilde, Rossor, Alexander M, Manji, Hadi, Lunn, Michael P, Pegoraro, Elena, Santoro, Lucio, Grandis, Marina, Bellone, Emilia, Beauchamp, Nicholas J, Hadjivassiliou, Marios, Kaski, Diego, Bronstein, Adolfo M, Houlden, Henry, Reilly, Mary M, Mandich, Paola, Schenone, Angelo, Manganelli, Fiore, Briani, Chiara, Cortese, Andrea

Get full text

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families by Scriba, Carolin K, Beecroft, Sarah J, Clayton, Joshua S, Cortese, Andrea, Sullivan, Roisin, Yau, Wai Yan, Dominik, Natalia, Rodrigues, Miriam, Walker, Elizabeth, Dyer, Zoe, Wu, Teddy Y, Davis, Mark R, Chandler, David C, Weisburd, Ben, Houlden, Henry, Reilly, Mary M, Laing, Nigel G, Lamont, Phillipa J, Roxburgh, Richard H, Ravenscroft, Gianina

Get full text

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry by Cortese, Andrea, Beecroft, Sarah J., Facchini, Stefano, Curro, Riccardo, Cabrera-Serrano, Macarena, Stevanovski, Igor, Chintalaphani, Sanjog R., Gamaarachchi, Hasindu, Weisburd, Ben, Folland, Chiara, Monahan, Gavin, Scriba, Carolin K., Dofash, Lein, Johari, Mridul, Grosz, Bianca R., Ellis, Melina, Fearnley, Liam G., Tankard, Rick, Read, Justin, Merve, Ashirwad, Dominik, Natalia, Vegezzi, Elisa, Schnekenberg, Ricardo P., Fernandez-Eulate, Gorka, Masingue, Marion, Giovannini, Diane, Delatycki, Martin B., Storey, Elsdon, Gardner, Mac, Amor, David J., Nicholson, Garth, Vucic, Steve, Henderson, Robert D., Robertson, Thomas, Dyke, Jason, Fabian, Vicki, Mastaglia, Frank, Davis, Mark R., Kennerson, Marina, Oflazer, Piraye, Başak, Nazli A., Kayserili, Hülya, Yeşil, Gözde, Malfatti, Edoardo, Lilliker, James B., Wicklund, Matthew, Pitceathly, Robert D. S., Brady, Stefen, Brais, Bernard, Pellerin, David, Zuchner, Stephan, Danzi, Matt C., Grandis, Marina, Comi, Giacomo P., Corti, Stefania P., Abati, Elena, Toscano, Antonio, Manini, Arianna, Ghia, Arianna, Tassorelli, Cristina, Quartesan, Ilaria, Simone, Roberto, Rossor, Alexander M., Reilly, Mary M., Carroll, Liam, Straub, Volker, Udd, Bjarne, Chen, Zhiyong, Bonne, Gisèle, Quinlivan, Ros, Hammans, Simon, Tucci, Arianna, Bahlo, Melanie, McLean, Catriona A., Laing, Nigel G., Stojkovic, Tanya, Houlden, Henry, Hanna, Michael G., Deveson, Ira W., Lockhart, Paul J., Lamont, Phillipa J., Fahey, Michael C., Bugiardini, Enrico, Ravenscroft, Gianina

Get full text

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease by Van Haute, Lindsey, O'Connor, Emily, Díaz-Maldonado, Héctor, Munro, Benjamin, Polavarapu, Kiran, Hock, Daniella H, Arunachal, Gautham, Athanasiou-Fragkouli, Alkyoni, Bardhan, Mainak, Barth, Magalie, Bonneau, Dominique, Brunetti-Pierri, Nicola, Cappuccio, Gerarda, Caruana, Nikeisha J, Dominik, Natalia, Goel, Himanshu, Helman, Guy, Houlden, Henry, Lenaers, Guy, Mention, Karine, Murphy, David, Nandeesh, Bevinahalli, Olimpio, Catarina, Powell, Christopher A, Preethish-Kumar, Veeramani, Procaccio, Vincent, Rius, Rocio, Rebelo-Guiomar, Pedro, Simons, Cas, Vengalil, Seena, Zaki, Maha S, Ziegler, Alban, Thorburn, David R, Stroud, David A, Maroofian, Reza, Christodoulou, John, Gustafsson, Claes, Nalini, Atchayaram, Lochmüller, Hanns, Minczuk, Michal, Horvath, Rita

Get full text

A novel variant of GALC in a familial case of krabbe disease: Insights from structural bioinformatics and molecular dynamics simulation by 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

Get full text

Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions by 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

Get full text

Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park e... by Luo, Huihui, Gustavsson, Emil K, Macpherson, Hannah, Dominik, Natalia, Zhelcheska, Kristina, Montgomery, Kylie, Anderson, Claire, Yau, Wai Yan, Efthymiou, Stephanie, Turner, Chris, DeTure, Michael, Dickson, Dennis W, Josephs, Keith A, Revesz, Tamas, Lashley, Tammaryn, Halliday, Glenda, Rowe, Dominic B, McCann, Emily, Blair, Ian, Lees, Andrew J, Tienari, Pentti J, Suomalainen, Anu, Molina-Porcel, Laura, Kovacs, Gabor G, Gelpi, Ellen, Hardy, John, Haltia, Matti J, Tucci, Arianna, Jaunmuktane, Zane, Ryten, Mina, Houlden, Henry, Chen, Zhongbo

Get full text

Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges by 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

Get full text

CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions by Dominik, Natalia, Galassi Deforie, Valentina, Cortese, Andrea, Houlden, Henry

Get full text

Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis by Azad, Beenish, Efthymiou, Stephanie, Sultan, Tipu, Scala, Marcello, Alvi, Javeria Raza, Neuray, Caroline, Dominik, Natalia, Gul, Asma, Houlden, Henry

Get full text

RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome by Kumar, Kishore R, Cortese, Andrea, Tomlinson, Susan E, Efthymiou, Stephanie, Ellis, Melina, Zhu, Danqing, Stoll, Marion, Dominik, Natalia, Tisch, Stephen, Tchan, Michel, Wu, Kathy H C, Devery, Sophie, Spring, Penelope J, Hawke, Simon, Cremer, Phillip, Ng, Karl, Reilly, Mary M, Nicholson, Garth A, Houlden, Henry, Kennerson, Marina

Get full text

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease by Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Vegezzi, Elisa, Sullivan, Roisin, Galassi Deforie, Valentina, Fernández-Eulate, Gorka, Traschütz, Andreas, Rossi, Salvatore, Garibaldi, Matteo, Kwarciany, Mariusz, Taroni, Franco, Brusco, Alfredo, Good, Jean-Marc, Cavalcanti, Francesca, Hammans, Simon, Ravenscroft, Gianina, Roxburgh, Richard H, Parolin Schnekenberg, Ricardo, Rugginini, Bianca, Abati, Elena, Manini, Arianna, Quartesan, Ilaria, Ghia, Arianna, Lòpez de Munaìn, Adolfo, Manganelli, Fiore, Kennerson, Marina, Santorelli, Filippo Maria, Infante, Jon, Marques, Wilson, Jokela, Manu, Murphy, Sinéad M, Mandich, Paola, Fabrizi, Gian Maria, Briani, Chiara, Gosal, David, Pareyson, Davide, Ferrari, Alberto, Prados, Ferran, Yousry, Tarek, Khurana, Vikram, Kuo, Sheng-Han, Miller, James, Troakes, Claire, Jaunmuktane, Zane, Giunti, Paola, Hartmann, Annette, Basak, Nazli, Synofzik, Matthis, Stojkovic, Tanya, Hadjivassiliou, Marios, Reilly, Mary M, Houlden, Henry, Cortese, Andrea

Get full text

Neuromuscular disease genetics in under-represented populations: increasing data diversity by Wilson, Lindsay A, Macken, William L, Perry, Luke D, Record, Christopher J, Schon, Katherine R, Frezatti, Rodrigo S S, Raga, Sharika, Naidu, Kireshnee, Köken, Özlem Yayıcı, Polat, Ipek, Kapapa, Musambo M, Dominik, Natalia, Efthymiou, Stephanie, Morsy, Heba, Nel, Melissa, Fassad, Mahmoud R, Gao, Fei, Patel, Krutik, Schoonen, Maryke, Bisschoff, Michelle, Vorster, Armand, Jonvik, Hallgeir, Human, Ronel, Lubbe, Elsa, Nonyane, Malebo, Vengalil, Seena, Nashi, Saraswati, Srivastava, Kosha, Lemmers, Richard J L F, Reyaz, Alisha, Mishra, Rinkle, Töpf, Ana, Trainor, Christina I, Steyn, Elizabeth C, Mahungu, Amokelani C, van der Vliet, Patrick J, Ceylan, Ahmet Cevdet, Hiz, A Semra, Çavdarlı, Büşranur, Semerci Gündüz, C Nur, Ceylan, Gülay Güleç, Nagappa, Madhu, Tallapaka, Karthik B, Govindaraj, Periyasamy, van der Maarel, Silvère M, Narayanappa, Gayathri, Nandeesh, Bevinahalli N, Wa Somwe, Somwe, Bearden, David R, Kvalsund, Michelle P, Ramdharry, Gita M, Oktay, Yavuz, Yiş, Uluç, Topaloğlu, Haluk, Sarkozy, Anna, Bugiardini, Enrico, Henning, Franclo, Wilmshurst, Jo M, Heckmann, Jeannine M, McFarland, Robert, Taylor, Robert W, Smuts, Izelle, van der Westhuizen, Francois H, Sobreira, Claudia Ferreira da Rosa, Tomaselli, Pedro J, Marques, Jr, Wilson, Bhatia, Rohit, Dalal, Ashwin, Srivastava, M V Padma, Yareeda, Sireesha, Nalini, Atchayaram, Vishnu, Venugopalan Y, Thangaraj, Kumarasamy, Straub, Volker, Horvath, Rita, Chinnery, Patrick F, Pitceathly, Robert D S, Muntoni, Francesco, Houlden, Henry, Vandrovcova, Jana, Reilly, Mary M, Hanna, Michael G

Get full text

Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum by Quartesan, Ilaria, Vegezzi, Elisa, Currò, Riccardo, Heslegrave, Amanda, Pisciotta, Chiara, Iruzubieta, Pablo, Salvalaggio, Alessandro, Fernández‐Eulate, Gorka, Dominik, Natalia, Rugginini, Bianca, Manini, Arianna, Abati, Elena, Facchini, Stefano, Manso, Katarina, Albajar, Ines, Laban, Rhiannon, Rossor, Alexander M., Pichiecchio, Anna, Cosentino, Giuseppe, Saveri, Paola, Salsano, Ettore, Andreetta, Francesca, Valente, Enza M., Zetterberg, Henrik, Giunti, Paola, Stojkovic, Tanya, Briani, Chiara, López de Munain, Adolfo, Pareyson, Davide, Reilly, Mary M., Houlden, Henry, Tassorelli, Cristina, Cortese, Andrea

Get full text

The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India by Vishnu, Venugopalan Y, Lemmers, Richard J L F, Reyaz, Alisha, Mishra, Rinkle, Ahmad, Tanveer, van der Vliet, Patrick J, Kretkiewicz, Marcelina M, Macken, William L, Efthymiou, Stephanie, Dominik, Natalia, Morrow, Jasper M, Bhatia, Rohit, Wilson, Lindsay A, Houlden, Henry, Hanna, Michael G, Bugiardini, Enrico, van der Maarel, Silvère M, Srivastava, M V Padma

Get full text

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies by Dworschak, Gabriel C, Punetha, Jaya, Kalanithy, Jeshurun C, Mingardo, Enrico, Erdem, Haktan B, Akdemir, Zeynep C, Karaca, Ender, Mitani, Tadahiro, Marafi, Dana, Fatih, Jawid M, Jhangiani, Shalini N, Hunter, Jill V, Dakal, Tikam Chand, Dhabhai, Bhanupriya, Dabbagh, Omar, Alsaif, Hessa S, Alkuraya, Fowzan S, Maroofian, Reza, Houlden, Henry, Efthymiou, Stephanie, Dominik, Natalia, Salpietro, Vincenzo, Sultan, Tipu, Haider, Shahzad, Bibi, Farah, Thiele, Holger, Hoefele, Julia, Riedhammer, Korbinian M, Wagner, Matias, Guella, Ilaria, Demos, Michelle, Keren, Boris, Buratti, Julien, Charles, Perrine, Nava, Caroline, Héron, Delphine, Heide, Solveig, Valkanas, Elise, Waddell, Leigh B, Jones, Kristi J, Oates, Emily C, Cooper, Sandra T, MacArthur, Daniel, Syrbe, Steffen, Ziegler, Andreas, Platzer, Konrad, Okur, Volkan, Chung, Wendy K, O'Shea, Sarah A, Alcalay, Roy, Fahn, Stanley, Mark, Paul R, Guerrini, Renzo, Vetro, Annalisa, Hudson, Beth, Schnur, Rhonda E, Hoganson, George E, Burton, Jennifer E, McEntagart, Meriel, Lindenberg, Tobias, Yilmaz, Öznur, Odermatt, Benjamin, Pehlivan, Davut, Posey, Jennifer E, Lupski, James R, Reutter, Heiko

Get full text

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease by Husain, Ralf A, Jiao, Xinfu, Hennings, J Christopher, Giesecke, Jan, Palsule, Geeta, Beck-Wödl, Stefanie, Osmanović, Dina, Bjørgo, Kathrine, Mir, Asif, Ilyas, Muhammad, Abbasi, Saad M, Efthymiou, Stephanie, Dominik, Natalia, Maroofian, Reza, Houlden, Henry, Rankin, Julia, Pagnamenta, Alistair T, Nashabat, Marwan, Altwaijri, Waleed, Alfadhel, Majid, Umair, Muhammad, Khouj, Ebtissal, Reardon, William, El-Hattab, Ayman W, Mekki, Mohammed, Houge, Gunnar, Beetz, Christian, Bauer, Peter, Putoux, Audrey, Lesca, Gaetan, Sanlaville, Damien, Alkuraya, Fowzan S, Taylor, Robert W, Mentzel, Hans-Joachim, Hübner, Christian A, Huppke, Peter, Hart, Ronald P, Haack, Tobias B, Kiledjian, Megerditch, Rubio, Ignacio

Get full text

A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities by Kaiyrzhanov, Rauan, Zaki, Maha S., Maroofian, Reza, Dominik, Natalia, Rad, Aboulfazl, Vona, Barbara, Houlden, Henry

Get full text

Repeat expansions in RFC1 gene in Refractory Chronic Cough by Hirons, Barnaby, Cho, Peter S P, Rhatigan, Katie, Shaw, Joe, Curro, Riccardo, Rugginini, Bianca, Dominik, Natalia, Turner, Richard D, Mackay, Ewan, Hull, James H, Abubakar-Waziri, Hisham, Kesavan, Harini, Jolley, Caroline J, Hadden, Robert D, Cortese, Andrea, Birring, Surinder S

Get full text

Bedside Head Impulse Test: A Useful Tool for Patients With Sensory Ataxia by Tozza, Stefano, Cortese, Andrea, Iovino, Aniello, Esposito, Marcello, Dominik, Natalia, Iodice, Rosa, Manganelli, Fiore

Get full text