Showing results (121-130 of 156) with videos related to

Sort By:
Pageof 16
Brain : a Journal of Neurology|June 2, 2025
Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathwayYoko Hirano, Yuri Miyazaki, Daisuke Ishikawa, et al.
Nature Communications|October 13, 2016
KCNE1 induces fenestration in the Kv7.1/KCNE1 channel complex that allows for highly specific pharmacological targetingEva Wrobel, Ina Rothenberg, Christoph Krisp, et al.
Medrxiv : the Preprint Server for Health Sciences|July 10, 2023
Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndromeEden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
The Journal of Clinical Investigation|September 21, 2021
Hyperexcitable interneurons trigger cortical spreading depression in an Scn1a migraine modelEva Auffenberg, Ulrike Bs Hedrich, Raffaella Barbieri, et al.
European Journal of Human Genetics : EJHG|October 17, 2022
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathyTamara T Koopmann, Yalda Jamshidi, Mohammad Naghibi-Sistani, et al.
American Journal of Human Genetics|November 14, 2023
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndromeEden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Human Mutation|December 3, 2009
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutationsAlessandra Pangrazio, Michael Pusch, Elena Caldana, et al.
Brain : a Journal of Neurology|March 25, 2024
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticityReza Maroofian, Payam Sarraf, Thomas J O'Brien, et al.
Brain : a Journal of Neurology|October 8, 2025
EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defectsSaikat Ghosh, Jaskaran Singh, Nadirah S Damseh, et al.
Medrxiv : the Preprint Server for Health Sciences|May 19, 2025
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal DysfunctionNiccolò E Mencacci, Georgia Minakaki, Reza Maroofian, et al.
Pageof 16