The p.(Leu97Ile) variant expands the genetic landscape of NEFL-associated Charcot-Marie-tooth neuropathies.
Menekse Oeztuerk, Sara Walli, D. Muhmann, Catherine Choueiri et autres
0 citationsApollo (University of Cambridge)
Barbara Leube
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45Publications signalées
3542Citations signalées
2Affiliations récentes
Institutions déclarées
Domaines associés
Genetic Neurodegenerative DiseasesNeurological disorders and treatmentsHereditary Neurological DisordersGenomic variations and chromosomal abnormalitiesBotulinum Toxin and Related Neurological Disorders
Publications récentes
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
Expanding the Genetic and Phenotypic Spectrum of DYT ‐ VPS16 : The Importance of Splice‐Site Variants
Ana Westenberger, Edgard Verdura, Mandy Radefeldt, Leslie E. Sanderson et autres
3 citationsMovement Disorders
Comprehensive genotype-phenotype analysis in POLR3-related disorders
Mackenzie A. Michell‐Robinson, Stefanie Perrier, Samuel Gauthier, Alexa Derksen et autres
2 citationsHuman Genetics and Genomics Advances
Variable Age at Onset in AOPEP ‐Associated Dystonia
Martina Minnerop, Barbara Leube, Alisha Reinhardt, Tristan Kölsche et autres
2 citationsMovement Disorders
Biallelic variants in YRDC cause a developmental disorder with progeroid features
Julia Schmidt, Jonas Goergens, Tatiana Pochechueva, Annika Kötter et autres
9 citationsHuman Genetics
Blood RNA biomarkers in prodromal PARK4 and REM sleep behavior disorder show role of complexin-1 loss for risk of Parkinson's disease
Suna Lahut, Suzana Gispert, Özgür Ömür, Candan Depboylu et autres
23 citationsDisease Models & Mechanisms
Idiopathische intrakranielle Hypertension bei einer Patientin mit einem Turner Mosaik der Zelllinie 46,X,i(Xq)
N Holtmann, A Porn, Martin Südmeyer, Barbara Leube et autres
0 citationsGeburtshilfe und Frauenheilkunde
Contiguous Gene Syndrome Involving DAX1 Deletion with Congenital Adrenal Insufficiency
Roschan Salimi Dafsari, Dorothea Haas, Barbara Leube, Joachim G. Eichhorn et autres
0 citations55th ESPE Meeting
Establishment of a Conditionally Immortalized Wilms Tumor Cell Line with a Homozygous WT1 Deletion within a Heterozygous 11p13 Deletion and UPD Limited to 11p15
Artur Brandt, Katharina Löhers, Manfred Beier, Barbara Leube et autres
11 citationsPLoS ONE
Diagnostic algorithms in Charcot–Marie–Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients
Sabine Rudnik‐Schöneborn, D.V. Tolle, Jan Senderek, Katja Eggermann et autres
90 citationsClinical Genetics
Mutations in CIZ1 are not a major cause for dystonia in Germany
Claudia Dufke, Ann‐Kathrin Hauser, Marc Sturm, Susanne Fluhr et autres
11 citationsMovement Disorders
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