Miriam Nickel - Dissemin

All papers authored by Miriam Nickel

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2022 Eva Wibbeler

, Miriam Nickel

, Christoph Schwering

, Angela Schulz, Jonathan W. Mink

The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample

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2020 Félixe Pelletier, Stefanie Perrier

, Ferdy K. Cayami

, Amytice Mirchi

, Stephan Saikali

, Luan T. Tran, Nicole Ulrick, Kether Guerrero

, Emmanouil Rampakakis

, Rosalina M. L. van Spaendonk

, Sakkubai Naidu, Daniela Pohl

, William T. Gibson

, Michelle Demos, Cyril Goizet and 105 other authors

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

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2019 Zoltan Lukacs, Paulina Nieves Cobos, Angela Schulz, René Santer, Simona Murko, Miriam Nickel

, Alfried Kohlschütter

Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease

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2018 Alessandro Simonati, Benjamin Van de Graaf, Odelya E. Pagovich, Kaleb Yohay, Peter Slasor, Dolan Sondhi, Angela Schulz, David Jacoby, Susanne Lezius, Dirk Kilian, Barry Kosofsky, Miriam Nickel

, Matthew Downs, Temitayo Ajayi, Ronald G. Crystal and 1 other authors

Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study

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Angela Schulz, Nicola Specchio, Emily de Los Reyes, Peter Slasor, Temitayo Ajayi, Paul Gissen, Douglas Ballon, Jonathan P. Dyke, Heather Cahan, David Jacoby, Alfried Kohlschütter, Miriam Nickel

Study of Intraventricular Cerliponase Alfa for CLN2 Disease

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This paper is made freely available by the publisher.

Kathleen W. Wyrwich, Angela Schulz, Miriam Nickel

, Peter Slasor, Temitayo Ajayi, David R. Jacoby, Alfried Kohlschütter

An Adapted Clinical Measurement Tool for the Key Symptoms of CLN2 Disease

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2016 U. Löbel

, J. Sedlacik

, M. Nickel

, S. Lezius

, J. Fiehler

, I. Nestrasil

, A. Kohlschütter

, A. Schulz

Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression

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Distributing this paper is prohibited by the publisher

Angela Schulz, Jonas Denecke, Jessika Johannsen, Miriam Nickel

Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease

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Simona Murko, René Santer, Alfried Kohlschuetter, Miriam Nickel

, Angela Schulz, Zoltan Lukacs

Possibilities for an early diagnosis of CLN2-disease

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This paper is available in a repository.

2015 S. Dulz, L. Wagenfeld, M. Nickel

, G. Richard, R. Schwartz, U. Bartsch, A. Kohlschütter, A. Schulz

Novel morphological macular findings in juvenile CLN3 disease

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Cayami Fk, Rosalina van Spaendonk, Luan Tran, Marjo van der Knaap, Nicole Wolf, van Spaendonk Rm, Miriam Nickel

, Annette Bley, Kether Guerrero, Roberta La Piana, Tran Lt, Geneviève Bernard, Ferdy Cayami, van der Knaap Ms, Wolf Ni

POLR3A and POLR3B Mutations in Unclassified Hypomyelination

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2014 Ulrike Löbel, Ferdinand Schweser, Miriam Nickel

, Andreas Deistung, Regine Grosse, Christian Hagel, Jens Fiehler, Angela Schulz, Monika Hartig, Reichenbach Jr, Jürgen R. Reichenbach

, Alfried Kohlschütter, Jan Sedlacik

Brain iron quantification by MRI in mitochondrial membrane protein-associated neurodegeneration under iron-chelating therapy

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Miriam Nickel

, Ulrike Löbel, Brigitte Holst, Gertrud Kammler, Jakob Matschke

, Angela Schulz, Alfried Kohlschütter

Unexplained Loss of Vision in a Child: Consider Bilateral Primary Optic Nerve Sheath Meningioma

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2012 S. Zittel, M. Nickel

, Wolf Ni, N. I. Wolf, G. Uyanik, D. Gläser, C. Ganos, C. Gerloff

, A. Münchau, A. Kohlschütter

“Pelizaeus–Merzbacher-like disease” presenting as complicated hereditary spastic paraplegia

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All papers authored by Miriam Nickel