Abdelkrim Saadi

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

Aline Bréchet, Rebecca Buchert, Jochen Schwenk et al. · Nature Communications · 2017 · 77 citations · Full text

Life Sciences, Molecular Biology, Neuroscience +13

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

Elizabeth Bhoj, Dong Li, Margaret Harr et al. · The American Journal of Human Genetics · 2016 · 74 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

Ralf A. Husain, Mona Grimmel, Matias Wagner et al. · The American Journal of Human Genetics · 2020 · 54 citations · Full text

Life Sciences, Genetics, Neurology +11

Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family

Abdelkrim Saadi, Guntram Borck, Nathalie Boddaert et al. · European Journal of Medical Genetics · 2009 · 28 citations

Life Sciences, Genetics, Neuroscience +13

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

Davor Lessel, Ayse Bilge Ozel, Susan Campbell et al. · Human Genetics · 2018 · 27 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6