Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features

por Mroczek, Magdalena, Durmus, Hacer, Töpf, Ana, Parman, Yesim, Straub, Volker
Publicado 2020

Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome

por Alrohaif, Hadil, Töpf, Ana, Evangelista, Teresinha, Lek, Monkol, McArthur, Daniel, Lochmüller, Hanns
Publicado 2018

Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation

por Howey, Richard, Mamasoula, Chrysovalanto, Töpf, Ana, Nudel, Ron, Goodship, Judith A., Keavney, Bernard D., Cordell, Heather J.
Publicado 2015

Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes

por Azuma, Yoshiteru, Töpf, Ana, Evangelista, Teresinha, Lorenzoni, Paulo José, Roos, Andreas, Viana, Pedro, Inagaki, Hidehito, Kurahashi, Hiroki, Lochmüller, Hanns
Publicado 2017

Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome

por Gatz, Christian, Hathazi, Denisa, Münchberg, Ute, Buchkremer, Stephan, Labisch, Thomas, Munro, Ben, Horvath, Rita, Töpf, Ana, Weis, Joachim, Roos, Andreas
Publicado 2019

A Nonsense Mutation in the IKBKG Gene in Mares with Incontinentia Pigmenti

por Towers, Rachel E., Murgiano, Leonardo, Millar, David S., Glen, Elise, Topf, Ana, Jagannathan, Vidhya, Drögemüller, Cord, Goodship, Judith A., Clarke, Angus J., Leeb, Tosso
Publicado 2013

MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses

por Oury, Julien, Liu, Yun, Töpf, Ana, Todorovic, Slobodanka, Hoedt, Esthelle, Preethish-Kumar, Veeramani, Neubert, Thomas A., Lin, Weichun, Lochmüller, Hanns, Burden, Steven J.
Publicado 2019

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome

por O’Connor, Emily, Töpf, Ana, Müller, Juliane S., Cox, Daniel, Evangelista, Teresinha, Colomer, Jaume, Abicht, Angela, Senderek, Jan, Hasselmann, Oswald, Yaramis, Ahmet, Laval, Steven H., Lochmüller, Hanns
Publicado 2016

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

por Töpf, Ana, Pyle, Angela, Griffin, Helen, Matalonga, Leslie, Schon, Katherine, Sickmann, Albert, Schara–Schmidt, Ulrike, Hentschel, Andreas, Chinnery, Patrick F., Kölbel, Heike, Roos, Andreas, Horvath, Rita
Publicado 2021

A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features

por Lim, Albert Z., McMacken, Grace, Rastelli, Francesca, Oláhová, Monika, Baty, Karen, Hopton, Sila, Falkous, Gavin, Töpf, Ana, Lochmüller, Hanns, Marini-Bettolo, Chiara, McFarland, Robert, Taylor, Robert W.
Publicado 2020

COL4A1-related autosomal recessive encephalopathy in 2 Turkish children

por Yaramis, Ahmet, Lochmüller, Hanns, Töpf, Ana, Sonmezler, Ece, Yilmaz, Elmasnur, Hiz, Semra, Yis, Uluc, Gungor, Serdal, Ipek Polat, Ayse, Edem, Pinar, Beltran, Sergi, Laurie, Steven, Yaramis, *Aysenur, Horvath, Rita, Oktay, Yavuz
Publicado 2020

ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure

por Jarmula, Adam, Łusakowska, Anna, Fichna, Jakub P., Topolewska, Malgorzata, Macias, Anna, Johnson, Katherine, Töpf, Ana, Straub, Volker, Rosiak, Edyta, Szczepaniak, Krzysztof, Dunin-Horkawicz, Stanisław, Maruszak, Aleksandra, Kaminska, Anna M., Redowicz, Maria Jolanta
Publicado 2019

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

por Töpf, Ana, Oktay, Yavuz, Balaraju, Sunitha, Yilmaz, Elmasnur, Sonmezler, Ece, Yis, Uluc, Laurie, Steven, Thompson, Rachel, Roos, Andreas, MacArthur, Daniel G., Yaramis, Ahmet, Güngör, Serdal, Lochmüller, Hanns, Hiz, Semra, Horvath, Rita
Publicado 2019

Congenital myasthenic syndrome in a cohort of patients with ‘double’ seronegative myasthenia gravis

por Lorenzoni, Paulo José, Ducci, Renata Dal-Pra, Arndt, Raquel Cristina, Hrysay, Nyvia Milicio Coblinski, Fustes, Otto Jesus Hernandez, Töpf, Ana, Lochmüller, Hanns, Werneck, Lineu Cesar, Kay, Cláudia Suemi Kamoi, Scola, Rosana Herminia
Publicado 2021

Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation

por Tan, Huay L, Glen, Elise, Töpf, Ana, Hall, Darroch, O'Sullivan, John J, Sneddon, Linda, Wren, Christopher, Avery, Peter, Lewis, Richard J, ten Dijke, Peter, Arthur, Helen M, Goodship, Judith A, Keavney, Bernard D
Publicado 2012

Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot

por Töpf, Ana, Griffin, Helen R., Glen, Elise, Soemedi, Rachel, Brown, Danielle L., Hall, Darroch, Rahman, Thahira J., Eloranta, Jyrki J., Jüngst, Christoph, Stuart, A. Graham, O'Sullivan, John, Keavney, Bernard D., Goodship, Judith A.
Publicado 2014

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for...

por Griffin, Helen R, Töpf, Ana, Glen, Elise, Zweier, Christiane, Stuart, A Graham, Parsons, Jonathan, Peart, Ian, Deanfield, John, O'Sullivan, John, Rauch, Anita, Scambler, Peter, Burn, John, Cordell, Heather J, Keavney, Bernard, Goodship, Judith A
Publicado 2010

Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects

por Arlt, Annabelle, Kohlschmidt, Nicolai, Hentschel, Andreas, Bartels, Enrika, Groß, Claudia, Töpf, Ana, Edem, Pınar, Szabo, Nora, Sickmann, Albert, Meyer, Nancy, Schara-Schmidt, Ulrike, Lau, Jarred, Lochmüller, Hanns, Horvath, Rita, Oktay, Yavuz, Roos, Andreas, Hiz, Semra
Publicado 2022

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

por 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
Publicado 2017

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

por Palomino Doza, Julian, Topf, Ana, Bentham, Jamie, Bhattacharya, Shoumo, Cosgrove, Catherine, Brook, J David, Granados-Riveron, Javier, Bu’Lock, Frances A, O’Sullivan, John, Stuart, A Graham, Parsons, Jonathan, Relton, Caroline, Goodship, Judith, Henderson, Deborah J, Keavney, Bernard
Publicado 2013