檢索結果 - Töpf, Ana

A Romani mitochondrial haplotype in England 500 years before their recorded arrival in Britain 由 Töpf, Ana L, Hoelzel, A. Rus

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Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features 由 Mroczek, Magdalena, Durmus, Hacer, Töpf, Ana, Parman, Yesim, Straub, Volker

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Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome 由 Alrohaif, Hadil, Töpf, Ana, Evangelista, Teresinha, Lek, Monkol, McArthur, Daniel, Lochmüller, Hanns

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Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation 由 Howey, Richard, Mamasoula, Chrysovalanto, Töpf, Ana, Nudel, Ron, Goodship, Judith A., Keavney, Bernard D., Cordell, Heather J.

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Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes 由 Azuma, Yoshiteru, Töpf, Ana, Evangelista, Teresinha, Lorenzoni, Paulo José, Roos, Andreas, Viana, Pedro, Inagaki, Hidehito, Kurahashi, Hiroki, Lochmüller, Hanns

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Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome 由 Gatz, Christian, Hathazi, Denisa, Münchberg, Ute, Buchkremer, Stephan, Labisch, Thomas, Munro, Ben, Horvath, Rita, Töpf, Ana, Weis, Joachim, Roos, Andreas

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Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family 由 Yiş, Uluç, Hiz, Semra, Güneş, Sezgin, Diniz, Gülden, Baydan, Figen, Töpf, Ana, Sonmezler, Ece, Lochmüller, Hanns, Horvath, Rita, Oktay, Yavuz

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A Nonsense Mutation in the IKBKG Gene in Mares with Incontinentia Pigmenti 由 Towers, Rachel E., Murgiano, Leonardo, Millar, David S., Glen, Elise, Topf, Ana, Jagannathan, Vidhya, Drögemüller, Cord, Goodship, Judith A., Clarke, Angus J., Leeb, Tosso

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MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses 由 Oury, Julien, Liu, Yun, Töpf, Ana, Todorovic, Slobodanka, Hoedt, Esthelle, Preethish-Kumar, Veeramani, Neubert, Thomas A., Lin, Weichun, Lochmüller, Hanns, Burden, Steven J.

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Adult-onset Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) 由 Fatehi, Farzad, Okhovat, Ali Asghar, Nilipour, Yalda, Mroczek, Magdalena, Straub, Volker, Töpf, Ana, Palibrk, Aleksa, Peric, Stojan, Stojanovic, Vidosava Rakocevic, Najmabadi, Hossein, Nafissi, Shahriar

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

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

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

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COL4A1-related autosomal recessive encephalopathy in 2 Turkish children 由 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

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

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Severe neurodevelopmental disease caused by a homozygous TLK2 variant 由 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

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

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Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation 由 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

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Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot 由 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.

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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... 由 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

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