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Author

Marius Kuhn

Observed names: M Kuhn, M. Kuhn
Institution: Genetikum
OpenAlex ID: A5078937014
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
2016 · Cyril Mignot, Celina von Stülpnagel, et al. · Journal of Medical Genetics · 189
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Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy
2016 · Marius Kuhn, Dieter Gläser, et al. · Journal of Neurology · 64
Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum
2015 · Olimpia Musumeci, Andrea Thieme, et al. · Neuromuscular Disorders · 41
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy
2018 · Katharina Vill, Wolfgang Müller-Felber, et al. · Human Genetics · 28
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies
2020 · Marco Savarese, Mridul Johari, et al. · Journal of Neuromuscular Diseases · 27
Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany
2017 · K. Vill, A. Blaschek, et al. · Journal of Neuromuscular Diseases · 24
Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
2021 · J. Vornweg, S. Gläser, et al. · British Journal of Dermatology · 16
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Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study
2022 · Lucy Loong, Agostina Tardivo, et al. · Genetics in Medicine · 15
Early infantile sensory-motor neuropathy with late onset respiratory distress
2013 · Astrid Blaschek, Dieter Gläser, et al. · Neuromuscular Disorders · 15
A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.
2011 · F Lehmann-Horn, M Orth, et al. · PubMed Central · 15
Anaphylaxis to E466
2000 · C. Schuster, B. Wüthrich, et al. · Allergy · 15
RareKCNJ18variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients: Table 1
2015 · Marius Kuhn, Karin Jurkat-Rott, et al. · Journal of Neurology Neurosurgery & Psychiatry · 12
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Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene
2015 · Katharina Vill, Marius Kuhn, et al. · Neuropediatrics · 11
Diagnostic applications of next generation sequencing: working towards quality standards/Diagnostische Anwendung von Next Generation Sequencing: Auf dem Weg zu Qualitätsstandards
2012 · Ina Vogl, Sebastian H. Eck, et al. · Journal of Laboratory Medicine · 10
PIGNencephalopathy: Characterizing the epileptology
2022 · Allan Bayat, Guillem de Valles‐Ibáñez, et al. · Epilepsia · 9
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Applications and data analysis of next-generation sequencing
2013 · Ina Vogl, Anna Benet-Pagès, et al. · Journal of Laboratory Medicine · 7
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Incontinentia pigmenti with ultrastructurally disordered leucocytes
2010 · S Minić, D Trpinac, et al. · Journal of Clinical Pathology · 7
Overlap Phenotype between CMT1A and Hereditary Neuropathy with Liability to Pressure Palsies Caused by the Novel Small In-frame Deletion c.407_418del12 in PMP22 Gene
2014 · Marius Kuhn, Dieter Gläser, et al. · Neuropediatrics · 6
Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis.
2018 · Chunxiang Fan, Marius Kuhn, et al. · Europe PMC (PubMed Central) · 3
Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories
2023 · Maximilian G. W. Witzel, Christian Gebhard, et al. · Frontiers in Neurology · 1
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SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy
2018 · Katharina Vill, Wolfgang Müller-Felber, et al. · Newcastle University ePrints (Newcastle Univesity)
P 913. Heterozygous Nonsense Variant in the TCF20 Gene as a Cause of Congenital Myopathy
2018 · Katharina Vill, Wolfgang Müller-Felber, et al. · Neuropediatrics
Molekulargenetische und zytogenetische Diagnostik/ Redaktion: H.-G. Klein Molecular-Genetic and Cytogenetic Diagnostics
2013 · Ina Vogl, Anna Benet‐Pagès, et al.
Molekulargenetische und zytogenetische Redaktion: H.-G. Klein
2012 · Ina Vogl, Sebastian Eck, et al.
Works count: 24
Citation count: 515
H-index: 12
I10-index: 14
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