E-LIB Suche - Ergebnisse für: Nickel, Miriam

1

Safety and efficacy of cerliponase alfa in children with ne..:

Schulz, Angela ; Specchio, Nicola ; de los Reyes, Emily...
The Lancet Neurology. 23 (2024) 1 - p. 60-70 , 2024

Link: https://doi.org/10.1016/..

2

Language Delay in Patients with CLN2 Disease: Could It Supp..:

Nickel, Miriam ; Gissen, Paul ; Greenaway, Rebecca...
Neuropediatrics. 54 (2023) 6 - p. 402-406 , 2023

Link: https://doi.org/10.1055/..

3

The relationship between the expanded neuronal ceroid lipof..:

Hagenah, Luca ; Schwering, Christoph ; Wilson, Catherine...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107135 , 2023

Link: https://doi.org/10.1016/..

4

Real-world clinical outcomes of intraventricular cerliponas..:

Schulz, Angela ; Schwering, Christoph ; Wibbeler, Eva...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S109 , 2022

Link: https://doi.org/10.1016/..

5

The expanded neuronal ceroid lipofuscinosis 2 (CLN2) clinic..:

Phillips, Dawn ; Cho, Yoonjin ; Nevoret, Marie-Laure...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S97 , 2022

Link: https://doi.org/10.1016/..

6

The Unified Batten Disease Rating Scale (UBDRS): Validation..:

Wibbeler, Eva ; Nickel, Miriam ; Schwering, Christoph..
European Journal of Paediatric Neurology. 38 (2022) - p. 62-65 , 2022

Link: https://doi.org/10.1016/..

7

Natural history of CLN7 disease: Quantitative prospective a..:

Schulz, Angela ; Nickel, Miriam
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S109 , 2022

Link: https://doi.org/10.1016/..

8

Natural History Studies in NCL and Their Expanding Role in ..:

Nickel, Miriam ; Schulz, Angela
Frontiers in Neurology. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

9

Hamburg iNCL scale: A new tool for the quantitative descrip..:

Nickel, Miriam ; Schwering, Christoph ; Westermann, Lena...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S88-S89 , 2022

Link: https://doi.org/10.1016/..

10

Visual perception and macular integrity in non-classical CL..:

Atiskova, Yevgeniya ; Wildner, Jan ; Wibbeler, Eva...
Graefe's Archive for Clinical and Experimental Ophthalmology. 260 (2022) 11 - p. 3693-3700 , 2022

Link: https://doi.org/10.1007/..

11

Guidelines on the diagnosis, clinical assessments, treatmen..:

Mole, Sara E. ; Schulz, Angela ; Badoe, Eben...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

12

Development of the "Hamburg Best Practice Guidelines for IC..:

Schwering, Christoph ; Kammler, Gertrud ; Wibbeler, Eva...
Journal of Child Neurology. 36 (2021) 8 - p. 635-641 , 2021

Link: https://doi.org/10.1177/..

13

Management of CLN1 Disease: International Clinical Consensu:

Augustine, Erika F. ; Adams, Heather R. ; de los Reyes, Emily...
Pediatric Neurology. 120 (2021) - p. 38-51 , 2021

Link: https://doi.org/10.1016/..

14

Investigating health-related quality of life in rare diseas..:

Gissen, Paul ; Specchio, Nicola ; Olaye, Andrew...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

15

An Ophthalmic Rating Scale to Assess Ocular Involvement in ..:

Dulz, Simon ; Atiskova, Yevgeniya ; Wibbeler, Eva...
American Journal of Ophthalmology. 220 (2020) - p. 64-71 , 2020

Link: https://doi.org/10.1016/..