Associated Papers
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Asadollahi R et al.
Nature Genetics, 2025
41125872 (PubMed )
Supplement: 41588_2025_2361_MOESM6_ESM.xlsx › Previously_published__no_f-up_
Disorders of synaptic vesicle fusion machinery.
Melland H et al.
Journal of Neurochemistry, 2021
Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery.
Cali E et al.
Frontiers in Neurology, 2021
Response to olaparib in a PALB2 germline mutated prostate cancer and genetic events associated with resistance.
Horak P et al.
Cold Spring Harbor Molecular Case Studies, 2019
30833416 (PubMed )
Supplement: supp_mcs.a003657_Supplemental_Table_S1.xlsx › metastasis_snvs
Congenital myasthenic syndromes.
Finsterer J
Orphanet Journal of Rare Diseases, 2019
The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
Rodríguez Cruz PM et al.
International Journal of Molecular Sciences, 2018
The unfolding landscape of the congenital myasthenic syndromes.
Engel AG et al.
Annals of the New York Academy of Sciences, 2018
Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia.
Engel AG et al.
Neurology. Genetics, 2016
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