Claudia Catarino
6PUBLICATIONS
111CO-AUTHORS
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Publications (6)
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|Feb 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.Benita Menden, Rana D Incebacak Eltemur, German Demidov
|Dec 04, 2024
Myeloid cell-specific loss of NPC1 in mice recapitulates microgliosis and neurodegeneration in patients with Niemann-Pick type C disease.Lina Dinkel, Selina Hummel, Valerio Zenatti
|Aug 09, 2022
Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study.Julia Zibold, Bettina von Livonius, Hana Kolarova
|Jun 30, 2022
Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors.C A P F Alves, O Sherbini, F D'Arco
|Aug 18, 2020
LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum.Christiane M Neuhofer, Claudia B Catarino, Heinrich Schmidt
|Dec 21, 2017
Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.Claudia B Catarino, Christian Vollmar, Clemens Küpper
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Frequent Collaborators
4 joint publications
Thomas Klopstock
1 joint publications
C A P F Alves
1 joint publications
D Steel
1 joint publications
M A Kurian
1 joint publications
G B Ferrero
1 joint publications
D Carli
1 joint publications
M Tartaglia
1 joint publications
T B Balci
1 joint publications
J Hoefele
1 joint publications
E R Roeder
