Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Motee Ashhab"'
Autor:
Felix Boschann, Henrike Sczakiel, Max Zhao, Magdalena Danyel, Corinna Stoltenburg, Nadirah Damseh, Motee Ashhab, Tugce Balci, Kalene van Engelen, Matt Osmond, Jens Schallner, Joseph Porrmann, Kimberly McDonald, Mingjuan Liao, Henry Oppermann, Konrad Platzer, Nadine Dierksen, Majid Mojarad, Atieh Eslahi, Behnaz Bakaeean, Reza Maroofian, Nadja Ehmke, Dominik Seelow, Denise Horn
FINCA syndrome is an autosomal recessive inherited multisystemic disorder characterized by pulmonary fibrosis, neurodegeneration and cerebral angiomatosis. So far, 13 patients from nine families with biallelic NHLRC2 variants have been published. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::db841332032830bda691c701211d4d2a
https://doi.org/10.21203/rs.3.rs-2256298/v1
https://doi.org/10.21203/rs.3.rs-2256298/v1
Autor:
Bassam Abu-Libdeh, Simon Edvardson, Tamar Harel, Orly Elpeleg, Muhannad Daana, Anwar Dudin, Maher Shahrour, Motee Ashhab
Publikováno v:
neurogenetics. 20:209-213
Regulation of neuronal connectivity and synaptic communication are key to proper functioning of the brain. The Netrin-G subfamily and their cognate receptors are vertebrate-specific synaptic cell adhesion molecules with a role in synapse establishmen
Publikováno v:
neurogenetics. 18:135-139
Hypomyelinating leukodystrophies are a group of neurodevelopmental disorders that affect proper formation of the myelin sheath in the central nervous system. They are characterized by developmental delay, hypotonia, spasticity, and variable intellect
Autor:
Abdussalam Azem, Malay Patra, Orly Elpeleg, Bassam Abu-Libdeh, Motee Ashhab, Celeste Weiss, Shadi Abuzer, Muhammad Mahajnah, Amit Kessel
Publikováno v:
Eur J Hum Genet
Here, we describe a single patient from a consanguineous family, who suffers from developmental delay, intellectual disability, hypermetropia, moderate alternating esotropia, unsteady gait, and peripheral polyneuropathy. Brain MRI revealed basal gang
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::701d482b18dd91194f7f0d0033ea5d4c
https://europepmc.org/articles/PMC6777446/
https://europepmc.org/articles/PMC6777446/
Autor:
Mohammad M. Herzallah, Joman Y. Natsheh, Samir Khalil, Ashar Y. Natsheh, Motee Ashhab, Ekaterina Dobryakova, John DeLuca
Publikováno v:
SSRN Electronic Journal.
Background: Children with attention-deficit/hyperactivity disorder (ADHD) exhibit cognitive impairments that affect their daily life functioning. These impairments may reflect a deficit in action-control, i.e., an inability to flexibly adapt behavior
Autor:
Bassam Abu-Libdeh, George Lucian Moldovan, Orly Elpeleg, Maher Shahrour, Claudia M. Nicolae, Motee Ashhab, Simon Edvardson, Adri M. Galvan, Daniel Constantin
Publikováno v:
neurogenetics. 17:227-232
DNA repair mechanisms such as nucleotide excision repair (NER) and translesion synthesis (TLS) are dependent on proliferating cell nuclear antigen (PCNA), a DNA polymerase accessory protein. Recently, homozygosity for p.Ser228Ile mutation in the PCNA
Autor:
Orly Elpeleg, Adri M. Galvan, Motee Ashhab, Bassam Abu-Libdeh, George Lucian Moldovan, Simon Edvardson, Daniel Constantin, Claudia M. Nicolae, Maher Shahrour
Publikováno v:
neurogenetics. 18:71-71
DNA repair mechanisms such as Nucleotide Excision Repair (NER) and Translesion Synthesis (TLS) are dependent on proliferating cell nuclear antigen (PCNA), a DNA polymerase accessory protein. Recently, homozygosity for p.Ser228Ile mutation in the PCNA