Three novel missense variants in two families with JAG2-associated limb-girdle muscular dystrophy
Dofash, Lein, Lyengar, Krishnan, Pereira, Nolette, Parmar, Jevin, Folland, Chiara, Laing, Nigel, Kang, Peter B., Cairns, Anita, Lynch, Matthew, Davis, Mark, Ravenscroft, Gianina
Published in Neuromuscular disorders : NMD (01.09.2024)
Published in Neuromuscular disorders : NMD (01.09.2024)
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De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features: ATXN7L3 variants in developmental delay
Harel, Tamar, Spicher, Camille, Scheer, Elisabeth, Buchan, Jillian, Cech, Jennifer, Folland, Chiara, Frey, Tanja, Holtz, Alexander, Innes, a Micheil, Keren, Boris, Macken, William, Marcelis, Carlo, Otten, Catherine, Paolucci, Sarah, Petit, Florence, Pfundt, Rolph, Pitceathly, Robert, Rauch, Anita, Ravenscroft, Gianina, Sanchev, Rani, Steindl, Katharina, Tammer, Femke, Tyndall, Amanda, Devys, Didier, Vincent, Stéphane D., Elpeleg, Orly, Tora, László
Published in Brain (London, England : 1878) (16.05.2024)
Published in Brain (London, England : 1878) (16.05.2024)
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Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement
Johari, Mridul, Topf, Ana, Folland, Chiara, Duff, Jennifer, Dofash, Lein, Marti, Pilar, Robertson, Thomas, Vilchez, Juan, Cairns, Anita, Harris, Elizabeth, Marini-Bettolo, Chiara, Hundallah, Khalid, Alhashem, Amal M, Al-Owain, Mohammed, Maroofian, Reza, Ravenscroft, Gianina, Straub, Volker
Published in Journal of medical genetics (28.08.2024)
Published in Journal of medical genetics (28.08.2024)
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Journal Article
Partial loss‐of‐function variant in neuregulin 1 identified in family with heritable peripheral neuropathy
Lysko, Daniel E., Meireles, Ana M., Folland, Chiara, McNamara, Elyshia, Laing, Nigel G., Lamont, Phillipa J., Ravenscroft, Gianina, Talbot, William S.
Published in Human mutation (01.09.2022)
Published in Human mutation (01.09.2022)
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Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy
Mavillard, Fabiola, Servian-Morilla, Emilia, Dofash, Lein, Rojas-Marcos, Iñigo, Folland, Chiara, Monahan, Gavin, Gutierrez-Gutierrez, Gerardo, Rivas, Eloy, Hernández-Lain, Aurelio, Valladares, Amador, Cantero, Gloria, Morales, Jose M, Laing, Nigel G, Paradas, Carmen, Ravenscroft, Gianina, Cabrera-Serrano, Macarena
Published in Brain (London, England : 1878) (01.12.2023)
Published in Brain (London, England : 1878) (01.12.2023)
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A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia
Mavillard, Fabiola, Guerra-Castellano, Alejandra, Guerrero-Gómez, David, Rivas, Eloy, Cantero, Gloria, Servian-Morilla, Emilia, Folland, Chiara, Ravenscroft, Gianina, Martín, Miguel A., Miranda-Vizuete, Antonio, Cabrera-Serrano, Macarena, Diaz-Moreno, Irene, Paradas, Carmen
Published in Biochimica et biophysica acta. Molecular basis of disease (01.10.2024)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.10.2024)
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Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis
Cabrera-Serrano, Macarena, Caccavelli, Laure, Savarese, Marco, Vihola, Anna, Jokela, Manu, Johari, Mridul, Capiod, Thierry, Madrange, Marine, Bugiardini, Enrico, Brady, Stefen, Quinlivan, Rosaline, Merve, Ashirwad, Scalco, Renata, Hilton-Jones, David, Houlden, Henry, Ibrahim Aydin, Halil, Ceylaner, Serdar, Vockley, Jerry, Taylor, Rhonda L, Folland, Chiara, Kelly, Aasta, Goullee, Hayley, Ylikallio, Emil, Auranen, Mari, Tyynismaa, Henna, Udd, Bjarne, Forrest, Alistair R R, Davis, Mark R, Bratkovic, Drago, Manton, Nicholas, Robertson, Thomas, McCombe, Pamela, Laing, Nigel G, Phillips, Liza, de Lonlay, Pascale, Ravenscroft, Gianina
Published in Brain (London, England : 1878) (21.11.2022)
Published in Brain (London, England : 1878) (21.11.2022)
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Identification of a novel heterozygous DYSF variant in a large family with a dominantly‐inherited dysferlinopathy
Folland, Chiara, Johnsen, Russell, Botero Gomez, Adriana, Trajanoski, Daniel, Davis, Mark R., Moore, Ursula, Straub, Volker, Barresi, Rita, Guglieri, Michela, Hayhurst, Hannah, Schaefer, Andrew M., Laing, Nigel G., Lamont, Philipa J., Ravenscroft, Gianina
Published in Neuropathology and applied neurobiology (01.12.2022)
Published in Neuropathology and applied neurobiology (01.12.2022)
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A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
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
Published in Nature communications (27.07.2024)
Published in Nature communications (27.07.2024)
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Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report
Folland, Chiara, Ganesh, Vijay, Weisburd, Ben, McLean, Catriona, Kornberg, Andrew J, O'Donnell-Luria, Anne, Rehm, Heidi L, Stevanovski, Igor, Chintalaphani, Sanjog R, Kennedy, Paul, Deveson, Ira W, Ravenscroft, Gianina
Published in Neurology. Genetics (01.04.2023)
Published in Neurology. Genetics (01.04.2023)
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Journal Article
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial involvement
Johari, Mridul, Topf, Ana, Folland, Chiara, Duff, Jennifer, Dofash, Lein, Marti, Pilar, Robertson, Thomas, Vilchez, Juan J, Cairns, Anita, Harris, Elizabeth, Marini-Bettolo, Chiara, Ravenscroft, Gianina, Straub, Volker
Published in medRxiv : the preprint server for health sciences (11.02.2024)
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Published in medRxiv : the preprint server for health sciences (11.02.2024)
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