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Author/Creator Topf, Ana

1. 22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia. Issue 8 (31st March 2010)

Authors:
van Engelen, Klaartje; Topf, Ana; Keavney, Bernard D; Goodship, Judith A; van der Velde, Enno T; Baars, Marieke J H; Snijder, Simone; Moorman, Antoon F; Postma, Alex V; Mulder, Barbara J M
Journal:
Heart
Issue:
Volume 96:Issue 8(2010)
Page Start:
621
Record Type:
Journal Article
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2. Clinical presentation and proteomic signature of patients with TANGO2 mutations. Issue 2 (13th August 2019)

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, Angel...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 2(2020)
Page Start:
297
Record Type:
Journal Article
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3. C Identification of the major genetic contributors to tetralogy of fallot. (May 2019)

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;...
Journal:
Heart
Issue:
Volume 105(2019)Supplement 6
Page Start:
A182
Record Type:
Journal Article
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4. Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study. Issue 10 (27th July 2022)

Authors:
Schiava, Marianela; Ikenaga, Chiseko; Villar-Quiles, Rocío Nur; Caballero-Ávila, Marta; Topf, Ana; Nishino, Ichizo; Kimonis, Virginia; Udd, Bjarne; Schoser, Benedikt; Zanoteli, Edmar; Souza, Paulo Victor Sgobbi; Tasca, Giorgio; Lloyd, Thomas; Lopez-de Munain, Adolfo; Paradas, Carmen; Pegoraro, El...
Other Names:
author non-byline.; Munain Adolfo López de author non-byline.; Ramos-Fransi Alba author non-byline.; Nadaj-Pakleza Aleksandra author non-byline.; Alonso-Jiménez Alicia author non-byline.; Martinez-Piñeiro Alicia author non-byline.; Töpf Ana author non-byline.; Oldfors Anders author non-byline.; ...
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 93:Issue 10(2022)
Page Start:
1099
Record Type:
Journal Article
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5. Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9. Issue 5 (28th April 2020)

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; ...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 7:Issue 5(2020)
Page Start:
757
Record Type:
Journal Article
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6. Limb girdle muscular dystrophy due to mutations in POMT2. Issue 5 (24th November 2017)

Authors:
Østergaard, Sofie Thurø; Johnson, Katherine; Stojkovic, Tanya; Krag, Thomas; De Ridder, Willem; De Jonghe, Peter; Baets, Jonathan; Claeys, Kristl G; Fernández-Torrón, Roberto; Phillips, Lauren; Topf, Ana; Colomer, Jaume; Nafissi, Shahriar; Jamal-Omidi, Shirin; Bouchet-Seraphin, Celine; Leturcq, F...
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 89:Issue 5(2018)
Page Start:
506
Record Type:
Journal Article
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7. Molecular characterization of congenital myasthenic syndromes in Spain. (June 2017)

Authors:
Natera-de Benito, Daniel; Topf, Ana; Dominguez-Carral, Jana; Vilchez, Juan Jesus; Diaz Manera, Jorge Alberto; Ortez, Carlos; Oferil, Jaume Colomer; Lochmuller, Hanns; Nascimento, Andres
Journal:
European journal of paediatric neurology
Issue:
Volume 21(2017)Supplement 1
Page Start:
e222
Record Type:
Journal Article
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9. SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain. Issue 10 (26th June 2019)

Authors:
Lemmers, Richard J L F; van der Stoep, Nienke; Vliet, Patrick J van der; Moore, Steven A; San Leon Granado, David; Johnson, Katherine; Topf, Ana; Straub, Volker; Evangelista, Teresinha; Mozaffar, Tahseen; Kimonis, Virginia; Shaw, Natalie D; Selvatici, Rita; Ferlini, Alessandra; Voermans, Nicol; v...
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 10(2019)
Page Start:
693
Record Type:
Journal Article
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10. STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca2+-entry modulators CIC-37 and CIC-39. (July 2022)

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.
Journal:
Cell calcium
Issue:
Volume 105(2022)
Page Start:
Record Type:
Journal Article
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