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Clinical Genetics|July 30, 2022
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM proteinMinna Kraatari-Tiri, Leila Soikkonen, Matti Myllykoski, et al.
Annals of Neurology|December 11, 2007
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegiaUte Hehr, Peter Bauer, Beate Winner, et al.
Human Molecular Genetics|March 19, 2026
Association of rare apolipoprotein E ε4 homozygosity with an earlier age at onset in spinocerebellar ataxia type 3Charlotte Clara Meyer, Eduardo Preusser de Mattos, Rahel Maria Burger, et al.
American Journal of Human Genetics|January 17, 2025
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsyRebecca Buchert, Martin D Burkhalter, Chrisovalantou Huridou, et al.
Neurology|January 26, 2021
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 DiseaseAndreas Traschütz, Andrea Cortese, Selina Reich, et al.
Nature Communications|June 7, 2024
Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic targetLucas Caldi Gomes, Sonja Hänzelmann, Fabian Hausmann, et al.
Genes|October 24, 2017
Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other DystoniasEva Hebert, Friederike Borngräber, Alexander Schmidt, et al.
Medrxiv : the Preprint Server for Health Sciences|June 26, 2025
RAB32 -linked Parkinson's disease: Deep phenotyping, MDSGene literature review, and application of SynNeurGe criteriaTeresa Kleinz, Francesco Cavallieri, Max Borsche, et al.
Parkinsonism & Related Disorders|March 21, 2025
18F-FDG PET findings in Parkinson's disease associated to RAB32 S71R variantFrancesco Cavallieri, Alessandro Fraternali, Annachiara Arnone, et al.
Parkinsonism & Related Disorders|November 29, 2025
Retinal structural changes in Parkinson's disease: differences in pRNFL thickness between GBA1-associated and idiopathic casesGiacomo Portaro, Michelangelo Giacomelli, Sara Grisanti, et al.
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