Marius W. Kuhn

Albert Einstein Allee 23
Ulm, BW, Germany

Last Updated: 09/26/2026

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Found 15 publications

Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories.

Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories.

Journal: Frontiers in neurology

Published: August 11, 2023

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 31, 2022

PIGN encephalopathy: Characterizing the epileptology.

PIGN encephalopathy: Characterizing the epileptology.

Journal: Epilepsia

Published: October 05, 2021

Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies.

Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies.

Journal: Journal of neuromuscular diseases

Published: February 11, 2020

Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis.

Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Published: March 07, 2019

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.

Journal: Human genetics

Published: August 09, 2018

Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany.

Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany.

Journal: Journal of neuromuscular diseases

Published: November 25, 2017

Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.

Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.

Journal: Journal of neurology

Published: September 02, 2015

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

Journal: Journal of medical genetics

Published: August 12, 2015

Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene.

Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene.

Journal: Neuropediatrics

Published: June 26, 2015

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.

Journal: Neuromuscular disorders : NMD

Published: February 14, 2015

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.

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.

Journal: Neuropediatrics

Published: September 30, 2014

Showing 1-12 of 15

Last Updated: 09/26/2026