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Journal of Neurology
|
June 25, 2024
Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease
Annalisa Schaub, Hannes Erdmann, Veronika Scholz, et al.
Journal of Neurology
|
January 9, 2022
Characterization of cognitive impairment in adult polyglucosan body disease
Paul Theo Zebhauser, Isabell Cordts, Holger Hengel, et al.
Neuromuscular Disorders : NMD
|
April 20, 2020
Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNA<sup>Pro</sup>) gene variant
Pushpa Raj Joshi, Karen Baty, Sila Hopton, et al.
Molecular Genetics & Genomic Medicine
|
September 7, 2021
Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data
German Demidov, Joohyun Park, Sorin Armeanu-Ebinger, et al.
Der Nervenarzt
|
May 6, 2020
[CANVAS: case report on a novel repeat expansion disorder with late-onset ataxia]
Tobias Meindl, Isabell Cordts, Anna-Lisa Scherzer, et al.
Journal of Neurology
|
November 21, 2022
Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants
Johanna Härtl, Julia Hartberger, Silke Wunderlich, et al.
Frontiers in Neurology
|
November 19, 2019
Patient-Reported Prevalence of Non-motor Symptoms Is Low in Adult Patients Suffering From 5q Spinal Muscular Atrophy
René Günther, Claudia Diana Wurster, Isabell Cordts, et al.
Journal of Neuromuscular Diseases
|
June 13, 2022
GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing
Alexander Mensch, Isabell Cordts, Leila Scholle, et al.
Acta Neuropathologica Communications
|
September 2, 2025
Identification and validation of a tear fluid-derived protein biomarker signature in patients with amyotrophic lateral sclerosis
Lena-Sophie Scholl, Antonia F Demleitner, Jenny Riedel, et al.
Multiple Sclerosis Journal - Experimental, Translational and Clinical
|
July 29, 2024
Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study
Julia M Mandler, Johanna Härtl, Isabell Cordts, et al.
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Search research articles
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Showing results (11-20 of 59) with videos related to
Sort By:
Page
of 6
Journal of Neurology
|
June 25, 2024
Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease
Annalisa Schaub, Hannes Erdmann, Veronika Scholz, et al.
Journal of Neurology
|
January 9, 2022
Characterization of cognitive impairment in adult polyglucosan body disease
Paul Theo Zebhauser, Isabell Cordts, Holger Hengel, et al.
Neuromuscular Disorders : NMD
|
April 20, 2020
Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNA<sup>Pro</sup>) gene variant
Pushpa Raj Joshi, Karen Baty, Sila Hopton, et al.
Molecular Genetics & Genomic Medicine
|
September 7, 2021
Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data
German Demidov, Joohyun Park, Sorin Armeanu-Ebinger, et al.
Der Nervenarzt
|
May 6, 2020
[CANVAS: case report on a novel repeat expansion disorder with late-onset ataxia]
Tobias Meindl, Isabell Cordts, Anna-Lisa Scherzer, et al.
Journal of Neurology
|
November 21, 2022
Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants
Johanna Härtl, Julia Hartberger, Silke Wunderlich, et al.
Frontiers in Neurology
|
November 19, 2019
Patient-Reported Prevalence of Non-motor Symptoms Is Low in Adult Patients Suffering From 5q Spinal Muscular Atrophy
René Günther, Claudia Diana Wurster, Isabell Cordts, et al.
Journal of Neuromuscular Diseases
|
June 13, 2022
GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing
Alexander Mensch, Isabell Cordts, Leila Scholle, et al.
Acta Neuropathologica Communications
|
September 2, 2025
Identification and validation of a tear fluid-derived protein biomarker signature in patients with amyotrophic lateral sclerosis
Lena-Sophie Scholl, Antonia F Demleitner, Jenny Riedel, et al.
Multiple Sclerosis Journal - Experimental, Translational and Clinical
|
July 29, 2024
Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study
Julia M Mandler, Johanna Härtl, Isabell Cordts, et al.
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