Clinical Variability and Genotype‐Driven Outcomes in CHRND ‐Related Congenital Myasthenic Syndrome
D. Muhmann, Göknur Haliloğlu, María Antonia Grimalt, Damjan Osredkar et autres
0 citationsEuropean Journal of Neurology
Angela Abicht
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254Publications signalées
5086Citations signalées
3Affiliations récentes
Institutions déclarées
Domaines associés
Myasthenia Gravis and ThymomaMitochondrial Function and PathologyMetabolism and Genetic DisordersGenomics and Rare DiseasesCellular transport and secretion
Publications récentes
Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male
Dzhoy Papingi, Michael Kutsche, Helena Clara Lichtenfeld, Fanny Kortüm et autres
0 citationsAmerican Journal of Medical Genetics Part A
Novel NPRL3 variant associated with sleep-related hypermotor epilepsy: a case report and educational review
Serena Broggi, Kai-Nicolas Poppert, Matthias Mauritz, Gudrun Kalss et autres
0 citationsFrontiers in Neuroscience
The p.(Leu97Ile) variant expands the genetic landscape of NEFL -associated Charcot–Marie-tooth neuropathies
Menekse Oeztuerk, Sara Walli, D. Muhmann, Catherine M Choueiri et autres
0 citationsHuman Molecular Genetics
Aktualisierung des Modells pathogener CNBP Repeatexpansionen ursächlich für die Myotone Dystrophie Typ 2
H. Erdmann, Martin Wendlandt, Simone Rost, Morghan C. Lucas et autres
0 citationsNervenheilkunde
Umfassende Charakterisierung des D4Z4-Repeatarrays mittels Long-Read-Sequenzierung für eine präzise Diagnostik der Fazioskapulohumeralen Muskeldystrophie
Florentine Scharf, H. Erdmann, Morghan C. Lucas, Stefanie Gehling et autres
0 citationsNervenheilkunde
„Triple trouble“: MELAS, Kabuki-Syndrom und multiple mtDNA Deletionen in einer Patientin mit CPEO plus
Felix Kleefeld, Werner Stenzel, H. Erdmann, Angela Abicht
0 citationsNervenheilkunde
Die Ränder des diagnostischen Spektrums der FSHD – Komplexe genetische Befunde in der Diagnostik der Fazioskapulohumeralen Muskeldystrophie (FSHD) und ihre Implikation für das molekulargenetische Modell der Erkrankung
H. Erdmann, Stefanie Gehling, Florentine Scharf, Morghan C. Lucas et autres
0 citationsNervenheilkunde
Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome
Adela Della Marina, Andrie Koutsoulidou, Daniel Natera‐de Benito, Lars‐Oliver Tykocinski et autres
1 citationActa Neuropathologica Communications
Joint analysis of germline genetic data from over 29,000 cases with suspected hereditary breast and ovarian cancer (HBOC) as part of the NASGE initiative
Jan Henkel, Andreas Laner, Melanie Locher, Tobias Wohlfrom et autres
4 citationsThe Breast
511P Blood biomarkers in a cohort of patients with CHRNE-associated congenital myasthenic syndrome
Adela Della Marina, Andrie Koutsoulidou, Daniel Natera‐de Benito, Lars‐Oliver Tykocinski et autres
0 citationsNeuromuscular Disorders
Loss-of-Function Variants of the LZTR1 Gene Are Associated with Isolated Café au lait Macules Manifesting in Early Childhood
Stefan Horn, Teresa Neuhann, L. Cardellini, Cornelia Potratz et autres
0 citationsNeuropediatrics
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