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36
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1.5K
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2
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Tübingen, Germany
Also known as European Reference Network for Rare Neurological Diseases
ERN-RND is a healthcare institution in Tübingen, Germany known for life sciences, medical genetics, and molecular genetics.
Top concepts
Life SciencesMedical GeneticsGeneticsNeurologyNeurogeneticsGenetic DisordersGenomicsRare Disease GenomicsRare Variant AnalysisVariant Interpretation
ERN-RND, Germany
3 publications · 18 citations
h-index
1 publications · 19 citations
1
1–2 of 2
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Carles Hernandéz-Ferrer, Davide Piscia, Enzo Cohen et al. · European Journal of Human Genetics · 2021 · 74 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Cerebrospinal fluid cytokines in multiple system atrophy: A cross-sectional Catalan MSA registry study
Yaroslau Compta, Sara P. Dias, Darly Milena Giraldo et al. · Parkinsonism & Related Disorders · 2019 · 43 citations · Full text
Life Sciences, Neurology, Neuroscience +16
Development of a patient journey map for people living with cervical dystonia
Monika Benson, Alberto Albanese, Kailash P. Bhatia et al. · Orphanet Journal of Rare Diseases · 2022 · 38 citations · Full text
Medicine, Neurology, Pain Management +12
Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations
Annemieke Aartsma‐Rus, Willeke van Roon‐Mom, Marlen C. Lauffer et al. · RNA · 2023 · 31 citations · Full text
Life Sciences, Neurology, Pharmacotherapy +16
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
Dmitrijs Rots, Sanaa Choufani, Víctor Faùndes et al. · The American Journal of Human Genetics · 2024 · 26 citations · Full text
Life Sciences, Genetics, Molecular Genetics +14
1–5 of 36