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Author/Creator Töpf, Ana

1. A de novoCSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents. Issue 1 (14th September 2021)

Authors:
Gangfuß, Andrea; Lochmüller, Hanns; Töpf, Ana; O'Heir, Emily; Horvath, Rita; Kölbel, Heike; Schweiger, Bernd; Schara‐Schmidt, Ulrike; Roos, Andreas
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 1(2022)
Page Start:
283
Record Type:
Journal Article
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2. Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta‐analysis Reveals Novel Potential Critical Regions Involved in Heart Development. (11th April 2014)

Authors:
Thorsson, Thor; Russell, William W.; El‐Kashlan, Nour; Soemedi, Rachel; Levine, Jonathan; Geisler, Sarah B.; Ackley, Todd; Tomita‐Mitchell, Aoy; Rosenfeld, Jill A.; Töpf, Ana; Tayeh, Marwan; Goodship, Judith; Innis, Jeffrey W.; Keavney, Bernard; Russell, Mark W.
Journal:
Congenital heart disease
Issue:
Volume 10:Number 3(2015)
Page Start:
193
Record Type:
Journal Article
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4. Clinico‐genetic spectrum of limb‐girdle muscular weakness in Austria: A multicentre cohort study. (10th March 2022)

Authors:
Krenn, Martin; Tomschik, Matthias; Wagner, Matias; Zulehner, Gudrun; Weng, Rosa; Rath, Jakob; Klotz, Sigrid; Gelpi, Ellen; Bsteh, Gabriel; Keritam, Omar; Colonna, Isabella; Paternostro, Chiara; Jäger, Fiona; Lindeck‐Pozza, Elisabeth; Iglseder, Stephan; Grinzinger, Susanne; Schönfelder, Martina; H...
Journal:
European journal of neurology
Issue:
Volume 29:Number 6(2022)
Page Start:
1815
Record Type:
Journal Article
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5. Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness. (May 2020)

Authors:
Lorenzoni, Paulo José; Kay, Cláudia Suemi Kamoi; Arndt, Raquel Cristina; Hrysay, Nyvia Milicio Coblinski; Ducci, Renata Dal-Pra; Fustes, Otto H. Jesus; Töpf, Ana; Lochmüller, Hanns; Werneck, Lineu Cesar; Scola, Rosana Herminia
Journal:
Journal of clinical neuroscience
Issue:
Volume 75(2020)
Page Start:
195
Record Type:
Journal Article
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6. Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis. (17th November 2021)

Authors:
Estephan, Eduardo P.; Zambon, Antonio A.; Thompson, Rachel; Polavarapu, Kiran; Jomaa, Danny; Töpf, Ana; Helito, Paulo V. P.; Heise, Carlos O.; Moreno, Cristiane A. M.; Silva, André M. S.; Kouyoumdjian, Joao A.; Morita, Maria da Penha; Reed, Umbertina C.; Lochmüller, Hanns; Zanoteli, Edmar
Journal:
European journal of neurology
Issue:
Volume 29:Number 3(2022)
Page Start:
833
Record Type:
Journal Article
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7. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Issue 6 (27th July 2018)

Authors:
Oates, Emily C.; Jones, Kristi J.; Donkervoort, Sandra; Charlton, Amanda; Brammah, Susan; Smith, John E.; Ware, James S.; Yau, Kyle S.; Swanson, Lindsay C.; Whiffin, Nicola; Peduto, Anthony J.; Bournazos, Adam; Waddell, Leigh B.; Farrar, Michelle A.; Sampaio, Hugo A.; Teoh, Hooi Ling; Lamont, Phi...
Journal:
Annals of neurology
Issue:
Volume 83:Issue 6(2018)
Page Start:
1105
Record Type:
Journal Article
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8. Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population. Issue 4 (19th June 2018)

Authors:
Johnson, Katherine; De Ridder, Willem; Töpf, Ana; Bertoli, Marta; Phillips, Lauren; De Jonghe, Peter; Baets, Jonathan; Deconinck, Tine; Rakocevic Stojanovic, Vidosava; Perić, Stojan; Durmus, Hacer; Jamal-Omidi, Shirin; Nafissi, Shahriar; Mongini, Tiziana; Łusakowska, Anna; Busby, Mark; Miller, Ja...
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 90:Issue 4(2019)
Page Start:
490
Record Type:
Journal Article
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9. First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC. Issue 9 (11th July 2020)

Authors:
Kölbel, Heike; Roos, Andreas; van der Ven, Peter F. M.; Evangelista, Teresinha; Nolte, Kay; Johnson, Katherine; Töpf, Ana; Wilson, Michael; Kress, Wolfram; Sickmann, Albert; Straub, Volker; Kollipara, Laxmikanth; Weis, Joachim; Fürst, Dieter O.; Schara, Ulrike
Journal:
Human mutation
Issue:
Volume 41:Issue 9(2020)
Page Start:
1600
Record Type:
Journal Article
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10. FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation. (7th August 2018)

Authors:
Mul, Karlien; Lemmers, Richard J.L.F.; Kriek, Marjolein; van der Vliet, Patrick J.; van den Boogaard, Marlinde L.; Badrising, Umesh A.; Graham, John M.; Lin, Angela E.; Brand, Harrison; Moore, Steven A.; Johnson, Katherine; Evangelista, Teresinha; Töpf, Ana; Straub, Volker; Kapetanovic García, So...
Journal:
Neurology
Issue:
Volume 91:Number 6(2018)
Page Start:
Record Type:
Journal Article
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