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Development of the "Hamburg Best Practice Guidelines for ICV−Enzyme Replacement therapy (ERT) in CLN2 Disease" Based on 6 Years Treatment Experience in 48 Patients.
Published in:
Journal of Child Neurology, 2021, v. 36, n. 8, p. 635, doi. 10.1177/0883073821989154
By:
- Schwering, Christoph;
- Kammler, Gertrud;
- Wibbeler, Eva;
- Christner, Martin;
- Knobloch, Johannes K.-M.;
- Nickel, Miriam;
- Denecke, Jonas;
- Baehr, Michael;
- Schulz, Angela
Publication type:
Article
Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series.
Published in:
Journal of Child Neurology, 2021, v. 36, n. 6, p. 468, doi. 10.1177/0883073820977997
By:
- Wibbeler, Eva;
- Wang, Raymond;
- Reyes, Emily de los;
- Specchio, Nicola;
- Gissen, Paul;
- Guelbert, Norberto;
- Nickel, Miriam;
- Schwering, Christoph;
- Lehwald, Lenora;
- Trivisano, Marina;
- Lee, Laura;
- Amato, Gianni;
- Cohen-Pfeffer, Jessica;
- Shediac, Renée;
- Leal-Pardinas, Fernanda;
- Schulz, Angela
Publication type:
Article
Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2).
Published in:
2021
By:
- Gissen, Paul;
- Specchio, Nicola;
- Olaye, Andrew;
- Jain, Mohit;
- Butt, Thomas;
- Ghosh, Wrik;
- Ruban-Fell, Benjamin;
- Griffiths, Annabel;
- Camp, Charlotte;
- Sisic, Zlatko;
- Schwering, Christoph;
- Wibbeler, Eva;
- Trivisano, Marina;
- Lee, Laura;
- Nickel, Miriam;
- Mortensen, Amanda;
- Schulz, Angela
Publication type:
journal article
Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients.
Published in:
Human Mutation, 2012, v. 33, n. 10, p. 1474, doi. 10.1002/humu.22130
By:
- Abicht, Angela;
- Dusl, Marina;
- Gallenmüller, Constanze;
- Guergueltcheva, Velina;
- Schara, Ulrike;
- Della Marina, Adele;
- Wibbeler, Eva;
- Almaras, Sybille;
- Mihaylova, Violeta;
- von der Hagen, Maja;
- Huebner, Angela;
- Chaouch, Amina;
- Müller, Juliane S.;
- Lochmüller, Hanns
Publication type:
Article
Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study.
Published in:
Frontiers in Human Neuroscience, 2020, v. 14, p. N.PAG, doi. 10.3389/fnhum.2020.560860
By:
- Della Marina, Adela;
- Wibbeler, Eva;
- Abicht, Angela;
- Kölbel, Heike;
- Lochmüller, Hanns;
- Roos, Andreas;
- Schara, Ulrike
Publication type:
Article
Visual perception and macular integrity in non-classical CLN2 disease.
Published in:
Graefe's Archive of Clinical & Experimental Ophthalmology, 2022, v. 260, n. 11, p. 3693, doi. 10.1007/s00417-022-05662-1
By:
- Atiskova, Yevgeniya;
- Wildner, Jan;
- Wibbeler, Eva;
- Nickel, Miriam;
- Spitzer, Martin Stephan;
- Schwering, Christoph;
- Schulz, Angela;
- Dulz, Simon
Publication type:
Article

Found: 6

Development of the "Hamburg Best Practice Guidelines for ICV−Enzyme Replacement therapy (ERT) in CLN2 Disease" Based on 6 Years Treatment Experience in 48 Patients.

Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series.

Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2).

Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients.

Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study.

Visual perception and macular integrity in non-classical CLN2 disease.