A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathology

Authors: Kadhim, Hazim, El-Howayek, Eliane, Coppens, Sandra, Duff, Jennifer, Topf, Ana, Kaleeta, Jean-Paul, Simoni, Paolo, Boitsios, Grammatina, Remiche, Gauthier, Straub, Volker, Vilain, Catheline, Deconinck, Nicolas

Source: NEUROMUSCULAR DISORDERS. 33(5):410-416

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100193520450.0x000001&indx=1&recIds=ETOCvdc_100193520450.0x000001

STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca2+-entry modulators CIC-37 and CIC-39

Authors: Riva, Beatrice, Pessolano, Emanuela, Quaglia, Edoardo, Cordero-Sanchez, Celia, Bhela, Irene P., Topf, Ana, Serafini, Marta, Cox, Daniel, Harris, Elizabeth, Garibaldi, Matteo, Barresi, Rita, Pirali, Tracey, Genazzani, Armando A.

Source: In Cell Calcium July 2022 105

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

Authors: Demidov, German, Yaldiz, Burcu, Garcia-Pelaez, José, de Boer, Elke, Schuermans, Nika, Van de Vondel, Liedewei, Paramonov, Ida, Johansson, Lennart F., Musacchia, Francesco, Benetti, Elisa, Bullich, Gemma, Sablauskas, Karolis, Beltran, Sergi, Gilissen, Christian, Hoischen, Alexander, Ossowski, Stephan, de Voer, Richarda, Lohmann, Katja, Oliveira, Carla, Topf, Ana

Source: NPJ Genomic Medicine; 10/26/2024, Vol. 9 Issue 1, p1-24, 24p

Loss- of- function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement.

Authors: Johari, Mridul, Topf, Ana, Folland, Chiara, Duff, Jennifer, Dofash, Lein, Marti, Pilar, Robertson, Thomas, Vilchez, Juan, Cairns, Anita, Harris, Elizabeth, Bettolo, Chiara Marini, Hundallah, Khalid, Alhashem, Amal M., Owain, Mohammed Al, Maroofian, Reza, Ravenscroft, Gianina, Straub, Volker

Source: Journal of Medical Genetics; Oct2024, Vol. 61 Issue 10, p992-998, 7p

Dominant stop‐loss HNRNPA1 variants in juvenile‐onset myopathy.

Authors: Turner, Johnnie, Bruels, Christine C., Daugherty, Audrey L., Estrella, Elicia A., Stafki, Seth, Syeda, Safoora B., Littel, Hannah R., Pais, Lynn, Ganesh, Vijay S., Lidov, Hart G. W., Paine, Simon M. L., Maddison, Paul, Harrison, Rachel E., Straub, Volker, Ghosh, Partha S., Pacak, Christina A., Kunkel, Louis M., Draper, Isabelle, Topf, Ana, Kang, Peter B.

Source: Muscle & Nerve; Oct2024, Vol. 70 Issue 4, p843-850, 8p

A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family: The Exception That Proves the Rule.

Authors: Claeys, Kristl G., Savarese, Marco, Jonson, Per Harald, Goosens, Veerle, Topf, Ana, Vihola, Anna, Straub, Volker, Udd, Bjarne

Source: Neurology: Genetics; Oct2024, Vol. 10 Issue 5, p1-6, 6p

HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy.

Authors: Roos, Andreas, Häusler, Martin, Kollipara, Laxmikanth, Topf, Ana, Preusse, Corinna, Stucka, Rolf, Nolte, Kay, Strom, Tim, Berutti, Riccardo, Jiang, Xuehui, Koll, Randi, Lochmüller, Hanns, Schacht, Sabine Maria, Zahedi, René P., Weis, Joachim, Senderek, Jan

Source: Journal of Neuromuscular Diseases; 2024, Vol. 11 Issue 5, p1131-1137, 7p

Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity

Authors: Stavusis, Janis, Micule, Ieva, Wright, Nathan T., Straub, Volker, Topf, Ana, Panadés-de Oliveira, Luísa, Domínguez-González, Cristina, Inashkina, Inna, Kidere, Dita, Chrestian, Nicolas, Lace, Baiba

Source: In Neuromuscular Disorders June 2020 30(6):483-491

Clinical presentation and proteomic signature of patients with TANGO2 mutations

Authors: Mingirulli, Nadja, Pyle, Angela, Hathazi, Denisa, Alston, Charlotte L., Kohlschmidt, Nicolai, O'Grady, Gina, Waddell, Leigh, Evesson, Frances, Cooper, Sandra B. T., Turner, Christian, Duff, Jennifer, Topf, Ana, Yubero, Delia, Jou, Cristina, Nascimento, Andrés, Ortez, Carlos, García‐Cazorla, Angels, Gross, Claudia, O'Callaghan, Maria, Santra, Saikat, Preece, Maryanne A., Champion, Michael, Korenev, Sergei, Chronopoulou, Efsthatia, Anirban, Majumdar, Pierre, Germaine, McArthur, Daniel, Thompson, Kyle, Navas, Placido, Ribes, Antonia, Tort, Frederic, Schlüter, Agatha, Pujol, Aurora, Montero, Raquel, Sarquella, Georgia, Lochmüller, Hanns, Jiménez‐Mallebrera, Cecilia, Taylor, Robert W., Artuch, Rafael, Kirschner, Janbernd, Grünert, Sarah C., Roos, Andreas, Horvath, Rita

Source: Journal of inherited metabolic disease. 43(2):297-308

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100122921228.0x000001&indx=1&recIds=ETOCvdc_100122921228.0x000001

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9

Authors: Murphy, Lindsay B., Schreiber‐Katz, Olivia, Rafferty, Karen, Robertson, Agata, Topf, Ana, Willis, Tracey A., Heidemann, Marcel, Thiele, Simone, Bindoff, Laurence, Laurent, Jean‐Pierre, Lochmüller, Hanns, Mathews, Katherine, Mitchell, Claudia, Stevenson, John Herbert, Vissing, John, Woods, Lacey, Walter, Maggie C., Straub, Volker

Source: Annals of clinical and translational neurology. 7(5):757-766

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100106999088.0x000001&indx=1&recIds=ETOCvdc_100106999088.0x000001

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

Authors: Page, Donna J., Miossec, Matthieu J., Williams, Simon G., Monaghan, Richard M., Fotiou, Elisavet, Cordell, Heather J., Sutcliffe, Louise, Topf, Ana, Bourgey, Mathieu, Bourque, Guillaume, Eveleigh, Robert, Dunwoodie, Sally L., Winlaw, David S., Bhattacharya, Shoumo, Breckpot, Jeroen, Devriendt, Koenraad, Gewillig, Marc, Brook, J. David, Setchfield, Kerry J., Bu'Lock, Frances A., O'Sullivan, John, Stuart, Graham, Bezzina, Connie R., Mulder, Barbara J.M., Postma, Alex V., Bentham, James R., Baron, Martin, Bhaskar, Sanjeev S., Black, Graeme C., Newman, William G., Hentges, Kathryn E., Lathrop, G. Mark, Santibanez-Koref, Mauro, Keavney, Bernard D.

Source: Circulation research. 124(4):553-563

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100076333539.0x000001&indx=1&recIds=ETOCvdc_100076333539.0x000001

HNRNPA1 de novoVariant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy

Authors: Roos, Andreas, Häusler, Martin, Kollipara, Laxmikanth, Topf, Ana, Preusse, Corinna, Stucka, Rolf, Nolte, Kay, Strom, Tim, Berutti, Riccardo, Jiang, Xuehui, Koll, Randi, Lochmüller, Hanns, Schacht, Sabine Maria, Zahedi, René P., Weis, Joachim, Senderek, Jan

Source: Journal of Neuromuscular Diseases; September 2024, Vol. 11 Issue: 5 p1131-1137, 7p

Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes.

Authors: Núñez-Carpintero, Iker, Rigau, Maria, Bosio, Mattia, O’Connor, Emily, Spendiff, Sally, Azuma, Yoshiteru, Topf, Ana, Thompson, Rachel, ’t Hoen, Peter A. C., Chamova, Teodora, Tournev, Ivailo, Guergueltcheva, Velina, Laurie, Steven, Beltran, Sergi, Capella-Gutiérrez, Salvador, Cirillo, Davide, Lochmüller, Hanns, Valencia, Alfonso

Source: Nature Communications; 1/2/2024, Vol. 15 Issue 1, p1-15, 15p

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy

Authors: Harris, Elizabeth, Topf, Ana, Barresi, Rita, Hudson, Judith, Powell, Helen, Tellez, James, Hicks, Debbie, Porter, Anna, Bertoli, Marta, Evangelista, Teresinha, Marini-Betollo, Chiara, Magnússon, Ólafur, Lek, Monkol, MacArthur, Daniel, Bushby, Kate, Lochmüller, Hanns, Straub, Volker

Source: Orphanet journal of rare diseases. 12(1):1-12

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100140991224.0x000001&indx=1&recIds=ETOCvdc_100140991224.0x000001

Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations

Authors: Harris, Elizabeth, McEntagart, Meriel, Topf, Ana, Lochmüller, Hanns, Bushby, Kate, Sewry, Caroline, Straub, Volker

Source: NEUROMUSCULAR DISORDERS. 27(2):170-174

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100042050085.0x000001&indx=1&recIds=ETOCvdc_100042050085.0x000001

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Authors: Bauché, Stéphanie, O'Regan, Seana, Azuma, Yoshiteru, Laffargue, Fanny, McMacken, Grace, Sternberg, Damien, Brochier, Guy, Buon, Céline, Bouzidi, Nassima, Topf, Ana, Lacène, Emmanuelle, Remerand, Ganaelle, Beaufrere, Anne-Marie, Pebrel-Richard, Céline, Thevenon, Julien, El Chehadeh-Djebbar, Salima, Faivre, Laurence, Duffourd, Yannis, Ricci, Federica, Mongini, Tiziana, Fiorillo, Chiara, Astrea, Guja, Burloiu, Carmen Magdalena, Butoianu, Niculina, Sandu, Carmen, Servais, Laurent, Bonne, Gisèle, Nelson, Isabelle, Desguerre, Isabelle, Nougues, Marie-Christine, Bœuf, Benoit, Romero, Norma, Laporte, Jocelyn, Boland, Anne, Lechner, Doris, Deleuze, Jean-François, Fontaine, Bertrand, Strochlic, Laure, Lochmuller, Hanns, Eymard, Bruno, Mayer, Michèle, Nicole, Sophie

Source: American journal of human genetics. 99(3):753-761

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100066839167.0x000001&indx=1&recIds=ETOCvdc_100066839167.0x000001

Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.

Authors: Schiava, Marianela, Ikenaga, Chiseko, Topf, Ana, Caballero-´Avila, Marta, Tsui-Fen Chou, Shan Li, Feng Wang, Daw, Jil, Stojkovic, Tanya, Villar-Quiles, Rocio, Ichizo Nishino, Michio Inoue, Yukako Nishimori, Yoshihiko Saito, Masahisa Katsuno, Noda, Seiya, Chihiro Ito, Mieko Otsuka, Nahir, Sruthi, Manousakis, Georgios

Source: Neurology: Genetics; Oct2023, Vol. 9 Issue 5, p1-12, 12p

Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.

Authors: Schiava, Marianela, Ikenaga, Chiseko, Nur Villar-Quiles, Rocío, Caballero-Ávila, Marta, Topf, Ana, Ichizo Nishino, Kimonis, Virginia, Udd, Bjarne, Schoser, Benedikt, Zanoteli, Edmar, Sgobbi Souza, Paulo Victor, Tasca, Giorgio, Lloyd, Thomas, Lopez-de Munain, Adolfo, Paradas, Carmen, Pegoraro, Elena, Nadaj-Pakleza, Aleksandra, De Bleecker, Jan, Badrising, Umesh, Alonso-Jiménez, Alicia

Source: Journal of Neurology, Neurosurgery & Psychiatry; Oct2022, Vol. 93 Issue 10, p1099-1111, 31p

Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels

Authors: Oliwa, Agata, Langlands, Gavin, Sarkozy, Anna, Munot, Pinki, Stewart, Willie, Phadke, Rahul, Topf, Ana, Straub, Volker, Duncan, Roderick, Wigley, Ralph, Petty, Richard, Longman, Cheryl, Farrugia, Maria Elena

Source: In Neuromuscular Disorders September 2023 33(9):98-105

Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot.

Authors: Doza, Julian Palomino¹ julianpalomino@gmail.com, Topf, Ana¹, Bentham, Jamie², Bhattacharya, Shoumo², Cosgrove, Catherine³, Brook, J. David³, Granados-Riveron, Javier³, Bu'Lock, Frances A.⁴, O'Sullivan, John⁵, Stuart, A. Graham⁶, Parsons, Jonathan⁷, Relton, Caroline¹, Goodship, Judith¹, Henderson, Deborah J.¹, Keavney, Bernard¹

Source: BMC Genetics. 2013, Vol. 14 Issue 1, p1-7. 7p. 2 Diagrams, 3 Charts.

Subject Terms: *TETRALOGY of Fallot, *CONGENITAL heart disease, *HUMAN genetic variation, *HEART disease relapse, *GENES