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Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
Published in:
Molecular Medicine, 2019, v. 25, n. 1, p. N.PAG, doi. 10.1186/s10020-019-0073-6
By:
- Begemann, Anaïs;
- Acuña, Mario A.;
- Zweier, Markus;
- Vincent, Marie;
- Steindl, Katharina;
- Bachmann-Gagescu, Ruxandra;
- Hackenberg, Annette;
- Abela, Lucia;
- Plecko, Barbara;
- Kroell-Seger, Judith;
- Baumer, Alessandra;
- Yamakawa, Kazuhiro;
- Inoue, Yushi;
- Asadollahi, Reza;
- Sticht, Heinrich;
- Zeilhofer, Hanns Ulrich;
- Rauch, Anita
Publication type:
Article
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Published in:
2017
By:
- Romaniello, Romina;
- Arrigoni, Filippo;
- Panzeri, Elena;
- Poretti, Andrea;
- Micalizzi, Alessia;
- Citterio, Andrea;
- Bedeschi, Maria;
- Berardinelli, Angela;
- Cusmai, Raffaella;
- D'Arrigo, Stefano;
- Ferraris, Alessandro;
- Hackenberg, Annette;
- Kuechler, Alma;
- Mancardi, Margherita;
- Nuovo, Sara;
- Oehl-Jaschkowitz, Barbara;
- Rossi, Andrea;
- Signorini, Sabrina;
- Tüttelmann, Frank;
- Wahl, Dagmar
Publication type:
journal article
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Published in:
2017
By:
- Romaniello, Romina;
- Arrigoni, Filippo;
- Panzeri, Elena;
- Poretti, Andrea;
- Micalizzi, Alessia;
- Citterio, Andrea;
- Bedeschi, Maria;
- Berardinelli, Angela;
- Cusmai, Raffaella;
- D'Arrigo, Stefano;
- Ferraris, Alessandro;
- Hackenberg, Annette;
- Kuechler, Alma;
- Mancardi, Margherita;
- Nuovo, Sara;
- Oehl-Jaschkowitz, Barbara;
- Rossi, Andrea;
- Signorini, Sabrina;
- Tüttelmann, Frank;
- Wahl, Dagmar
Publication type:
journal article
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
Published in:
2022
By:
- Mirza-Schreiber, Nazanin;
- Zech, Michael;
- Wilson, Rory;
- Brunet, Theresa;
- Wagner, Matias;
- Jech, Robert;
- Boesch, Sylvia;
- Škorvánek, Matej;
- Necpál, Ján;
- Weise, David;
- Weber, Sandrina;
- Mollenhauer, Brit;
- Trenkwalder, Claudia;
- Maier, Esther M;
- Borggraefe, Ingo;
- Vill, Katharina;
- Hackenberg, Annette;
- Pilshofer, Veronika;
- Kotzaeridou, Urania;
- Schwaibold, Eva Maria Christina
Publication type:
journal article
Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 13, p. 7382, doi. 10.3390/ijms23137382
By:
- Kivrak Pfiffner, Fatma;
- Koller, Samuel;
- Ménétrey, Anika;
- Graf, Urs;
- Bähr, Luzy;
- Maspoli, Alessandro;
- Hackenberg, Annette;
- Kottke, Raimund;
- Gerth-Kahlert, Christina;
- Berger, Wolfgang
Publication type:
Article
Neuroimaging in cerebellar ataxia in childhood: A review.
Published in:
Journal of Neuroimaging, 2022, v. 32, n. 5, p. 825, doi. 10.1111/jon.13017
By:
- Serrallach, Bettina L.;
- Orman, Gunes;
- Boltshauser, Eugen;
- Hackenberg, Annette;
- Desai, Nilesh K.;
- Kralik, Stephen F.;
- Huisman, Thierry A. G. M.
Publication type:
Article
Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients.
Published in:
2020
By:
- Jarius, Sven;
- Lechner, Christian;
- Wendel, Eva M.;
- Baumann, Matthias;
- Breu, Markus;
- Schimmel, Mareike;
- Karenfort, Michael;
- Marina, Adela Della;
- Merkenschlager, Andreas;
- Thiels, Charlotte;
- Blaschek, Astrid;
- Salandin, Michela;
- Leiz, Steffen;
- Leypoldt, Frank;
- Pschibul, Alexander;
- Hackenberg, Annette;
- Hahn, Andreas;
- Syrbe, Steffen;
- Strautmanis, Jurgis;
- Häusler, Martin
Publication type:
journal article
The Swiss Brain Health Plan 2023–2033.
Published in:
Clinical & Translational Neuroscience, 2023, v. 7, n. 4, p. 1, doi. 10.3390/ctn7040038
By:
- Bassetti, Claudio L. A.;
- Heldner, Mirjam R.;
- Adorjan, Kristina;
- Albanese, Emiliano;
- Allali, Gilles;
- Arnold, Marcel;
- Bègue, Indrit;
- Bochud, Murielle;
- Chan, Andrew;
- do Cuénod, Kim Q.;
- Du Pasquier, Renaud;
- Draganski, Bogdan;
- Eshmawey, Mohamed;
- Felbecker, Ansgar;
- Fischer, Urs;
- Frahsa, Annika;
- Frisoni, Giovanni B.;
- Grossmann, Harald;
- Guzman, Raphael;
- Hackenberg, Annette
Publication type:
Article
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Published in:
Annals of Neurology, 2021, v. 89, n. 4, p. 828, doi. 10.1002/ana.26019
By:
- Meng, Linyan;
- Isohanni, Pirjo;
- Shao, Yunru;
- Graham, Brett H.;
- Hickey, Scott E.;
- Brooks, Stephanie;
- Suomalainen, Anu;
- Joset, Pascal;
- Steindl, Katharina;
- Rauch, Anita;
- Hackenberg, Annette;
- High, Frances A.;
- Armstrong‐Javors, Amy;
- Mencacci, Niccolò E.;
- Gonzàlez‐Latapi, Paulina;
- Kamel, Walaa A.;
- Al‐Hashel, Jasem Y.;
- Bustos, Bernabé I.;
- Hernandez, Alejandro V.;
- Krainc, Dimitri
Publication type:
Article
Feasibility, safety, and outcome of recanalization treatment in childhood stroke.
Published in:
2018
By:
- Bigi, Sandra;
- Dulcey, Andrea;
- Gralla, Jan;
- Bernasconi, Corrado;
- Melliger, Amber;
- Datta, Alexandre N.;
- Arnold, Marcel;
- Kaesmacher, Johannes;
- Fluss, Joel;
- Hackenberg, Annette;
- Maier, Oliver;
- Weber, Johannes;
- Poloni, Claudia;
- Fischer, Urs;
- Steinlin, Maja
Publication type:
journal article
Preoperative neurodevelopment of children with moyamoya angiopathy.
Published in:
Developmental Medicine & Child Neurology, 2021, v. 63, n. 2, p. 218, doi. 10.1111/dmcn.14708
By:
- Serra, Sabina;
- Kugler, Julietta;
- Hug, Martina;
- Hackenberg, Annette;
- Latal, Beatrice;
- Khan, Nadia
Publication type:
Article
Ommaya reservoir 'off-duty' causing major late-onset complications in a child with medulloblastoma.
Published in:
Pediatric Blood & Cancer, 2017, v. 64, n. 6, p. n/a, doi. 10.1002/pbc.26384
By:
- Walker, Janina H.;
- Hackenberg, Annette;
- Bozinov, Oliver;
- Berger, Christoph;
- Scheer, Ianina;
- Grotzer, Michael A.;
- Gerber, Nicolas U.
Publication type:
Article
Ommaya reservoir "off-duty" causing major late-onset complications in a child with medulloblastoma.
Published in:
2016
By:
- Walker, Janina H;
- Hackenberg, Annette;
- Bozinov, Oliver;
- Berger, Christoph;
- Scheer, Ianina;
- Grotzer, Michael A;
- Gerber, Nicolas U
Publication type:
Case Study
Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome.
Published in:
Human Mutation, 2018, v. 39, n. 7, p. 959, doi. 10.1002/humu.23546
By:
- Stellacci, Emilia;
- Steindl, Katharina;
- Joset, Pascal;
- Mercurio, Laura;
- Anselmi, Massimiliano;
- Cecchetti, Serena;
- Gogoll, Laura;
- Zweier, Markus;
- Hackenberg, Annette;
- Bocchinfuso, Gianfranco;
- Stella, Lorenzo;
- Tartaglia, Marco;
- Rauch, Anita
Publication type:
Article
Thalamic connectivity topography in newborns with spina bifida: association with neurological functional level but not developmental outcome at 2 years.
Published in:
Cerebral Cortex, 2024, v. 34, n. 1, p. 1, doi. 10.1093/cercor/bhad438
By:
- Ji, Hui;
- Payette, Kelly;
- Speckert, Anna;
- Tuura, Ruth;
- Grehten, Patrice;
- Kottke, Raimund;
- Ochseinbein-Kölble, Nicole;
- Hagmann, Cornelia;
- Mazzone, Luca;
- Meuli, Martin;
- Padden, Beth;
- Hackenberg, Annette;
- Wille, David-Alexander;
- Moehrlen, Ueli;
- Latal, Beatrice;
- ZURICH, SPINA BIFIDA STUDY GROUP;
- Jakab, Andras
Publication type:
Article
Severe childhood Guillain-Barré syndrome associated with Mycoplasma pneumoniae infection: a case series.
Published in:
Journal of the Peripheral Nervous System, 2015, v. 20, n. 2, p. 72, doi. 10.1111/jns.12121
By:
- Meyer Sauteur, Patrick M.;
- Roodbol, Joyce;
- Hackenberg, Annette;
- de Wit, Marie‐Claire Y.;
- Vink, Cornelis;
- Berger, Christoph;
- Jacobs, Enno;
- van Rossum, Annemarie M. C.;
- Jacobs, Bart C.
Publication type:
Article

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