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#1Jose Gutierrez (Columbia University)H-Index: 20
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#1Alberto Parras (CSIC: Spanish National Research Council)
#2Laura de Diego-Garcia (RCSI: Royal College of Surgeons in Ireland)
Last. Norman Delanty (RCSI: Royal College of Surgeons in Ireland)H-Index: 48
view all 17 authors...
Temporal lobe epilepsy is the most common and refractory form of epilepsy in adults. Gene expression within affected structures such as the hippocampus displays extensive dysregulation and is implicated as a central pathomechanism. Post-transcriptional mechanisms are increasingly recognized as determinants of the gene expression landscape, but key mechanisms remain unexplored. Here we show, for first time, that cytoplasmic mRNA polyadenylation, one of the post-transcriptional mechanisms regulati...
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#1Valentina Perosa (Otto-von-Guericke University Magdeburg)
#2Emrah DüzelH-Index: 57
Last. Stefanie Schreiber (Otto-von-Guericke University Magdeburg)H-Index: 17
view all 3 authors...
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#1Chun Chieh Fan (UCSD: University of California, San Diego)H-Index: 19
#2Sarah J. Banks (UCSD: University of California, San Diego)H-Index: 19
Last. Richard Mayeux (Columbia University)H-Index: 132
view all 14 authors...
Sex differences in the manifestations of Alzheimer's disease are under intense investigation. Despite the emerging importance of polygenic predictions for Alzheimer's disease, sex-dependent polygenic effects have not been demonstrated. Here, using a sex crossover analysis, we show that sex-dependent autosomal genetic effects on Alzheimer's disease can be revealed by characterizing disease progress via the hazard function. We first performed sex-stratified genome-wide associations, and then appli...
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#1Vishnu Bashyam (UPenn: University of Pennsylvania)H-Index: 1
#2Guray Erus (UPenn: University of Pennsylvania)H-Index: 24
Last. Yong Fan (UPenn: University of Pennsylvania)H-Index: 33
view all 30 authors...
Deep learning has emerged as a powerful approach to constructing imaging signatures of normal brain ageing as well as of various neuropathological processes associated with brain diseases. In particular, MRI-derived brain age has been used as a comprehensive biomarker of brain health that can identify both advanced and resilient ageing individuals via deviations from typical brain ageing. Imaging signatures of various brain diseases, including schizophrenia and Alzheimer's disease, have also bee...
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#1Bertrand Hermann (French Institute of Health and Medical Research)H-Index: 2
#2Amina Ben Salah (French Institute of Health and Medical Research)
Last. Aurélie Kas (University of Paris)H-Index: 19
view all 15 authors...
Neurological examination of non-communicating patients relies on a few decisive items that enable the crucial distinction between vegetative state (VS)-also coined unresponsive wakefulness syndrome (UWS)-and minimally conscious state. Over the past 10 years, this distinction has proven its diagnostic value as well as its important prognostic value on consciousness recovery. However, clinicians are currently limited by three factors: (i) the current behavioural repertoire of minimally conscious s...
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#1Katharina Jäckle (GAU: University of Göttingen)
#2Thomas Zeis (University of Basel)H-Index: 11
Last. Wolfgang Brück (GAU: University of Göttingen)H-Index: 78
view all 8 authors...
Multiple sclerosis is an immune-mediated chronic inflammatory disease of the CNS that leads to demyelinated lesions in the grey and white matter. Inflammatory, active demyelinating white matter lesions predominate in the relapsing-remitting disease stages, whereas in the progressive stage the so-called slowly expanding lesion is characteristic. These lesions show an accumulation of macrophages/microglia at their borders, mediating the ongoing myelin breakdown and axonal degeneration. The exact p...
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#1Ariadna Amador (Columbia University)
#2Christopher D. Bostick (Columbia University)
Last. Ayla Kanber (Columbia University)H-Index: 1
view all 26 authors...
NMDA receptors play crucial roles in excitatory synaptic transmission. Rare variants in GRIN2A encoding the GluN2A subunit are associated with a spectrum of disorders, ranging from mild speech and language delay to intractable neurodevelopmental disorders, including but not limited to developmental and epileptic encephalopathy. A de novo missense variant, p.Ser644Gly, was identified in a child with this disorder, and Grin2a knock-in mice were generated to model and extend understanding of this i...
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#1Alessandro Salvalaggio (UNIPD: University of Padua)H-Index: 6
Last. Maurizio Corbetta (UNIPD: University of Padua)H-Index: 76
view all 5 authors...
Behavioural deficits in stroke reflect both structural damage at the site of injury, and widespread network dysfunction caused by structural, functional, and metabolic disconnection. Two recent methods allow for the estimation of structural and functional disconnection from clinical structural imaging. This is achieved by embedding a patient's lesion into an atlas of functional and structural connections in healthy subjects, and deriving the ensemble of structural and functional connections that...
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#1Tuancheng Feng (Cornell University)H-Index: 3
#2Rory R Sheng (Cornell University)
Last. Peter M. Sullivan (Cornell University)H-Index: 6
view all 13 authors...
TMEM106B encodes a lysosomal membrane protein and was initially identified as a risk factor for frontotemporal lobar degeneration. Recently, a dominant D252N mutation in TMEM106B was shown to cause hypomyelinating leukodystrophy. However, how TMEM106B regulates myelination is still unclear. Here we show that TMEM106B is expressed and localized to the lysosome compartment in oligodendrocytes. TMEM106B deficiency in mice results in myelination defects with a significant reduction of protein levels...
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