Not finding it? Sign in to also search OpenAlex live.
-
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
Daniel G. Calame, Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih, +58 more
9citations -
Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism2025 European Journal of Medical Genetics article Neuroscience Hereditary Neurological Disorders Open access
Barbora Lauerová, Radim Mazanec, Katja Eggermann, Dana Šafka Brožková, Annette Lischka, Pavel Seeman, +2 more
2citations -
Understanding the protective effect of the PLCG2 P522R variant in human microglia2023 Alzheimer s & Dementia article Neuroscience Neuroinflammation and Neurodegeneration Mechanisms Open access
Aiko Robert, Sascha Koppes, Lena Erlebach, Deborah Kronenberg‐Versteeg, Martin A. Giera, Rik van der Kant
0citations -
Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers2022 Neurological Research and Practice article Neuroscience Hereditary Neurological Disorders Open access
Maike Franziska Dohrn, Corina Heller, Diana Zengeler, Carolin D. Obermaier, Saskia Biskup, Joachim Weis, +9 more
3citations -
A Novel MYH14 Variant Presenting as a New Phenotype of MYH14-Associated Neuromuscular Disorders—Clinicohistologic Findings and Review of the Literature2024 Journal of Clinical Neuromuscular Disease article Neuroscience Hereditary Neurological Disorders
Alexander Mensch, Berit Jordan, Joachim Weis, Stefan Nikolin, Ilka Schneider, Angela Abicht, +7 more
0citations