[PDF][PDF] Department of Neurology

LR Wechsler - Citeseer
… agents for patients with muscular dystrophy. New funding … continues to be a high priority.
The department will continue to … for optimal seizure control and minimal side-effects. Patients …

Drug Repurposing Patent Applications October–December 2023

HAM Mucke - ASSAY and Drug Development Technologies, 2024 - liebertpub.com
… before the March 2022 priority date of this patent application. … and seizures, but the cause
and effect relationship is not clear. … the treatment of Duchenne muscular dystrophy and related …

Upregulation of haploinsufficient gene expression in the brain by targeting a long non-coding RNA improves seizure phenotype in a model of Dravet syndrome

J Hsiao, TY Yuan, MS Tsai, CY Lu, YC Lin, ML Lee… - …, 2016 - thelancet.com
… of sodium channel genes, also lead to seizures ( … To explore the effects of postnatal
upregulation of SCN1A … Similar mixture including 2 μl of water instead of the AntagoNAT solution …

[图书][B] Neurology: A clinical handbook

C Clarke - 2022 - books.google.com
… Examples are Duchenne muscular dystrophy and … epilepsy with febrile seizures plus (GEFS+),
seizures may persist beyond early childhood. Mutations of at least four ion channel

[PDF][PDF] Nineteenth Meeting of the European Neurological Society 20–24 June 2009, Milan, Italy

F Antonaci, Z Argov, I Arnulf, T Back, O Bajenaru… - J Neurol, 2009 - researchgate.net
… ; recent advances in understanding the genetics of the epilepsies … transposed to other forms
of muscular dystrophy: a cell therapy … progressive form of DLB should be research priorities. …

Development and Optimization of Sodium Channel-Blocking Anticonvulsant Therapeutics for SCN8A Developmental and Epileptic Encephalopathy

EM Baker - 2021 - search.proquest.com
… Sodium channel blocker effect on use-dependent block, persistent current block, activation
… Sodium channel blocker effect on the fast and slow time constants for onset of and recovery …

Focused Workshop

PS Sörensen - European Journal of Neurology, 2014 - search.ebscohost.com
Muscles involved in dominant inherited muscle dystrophies: … , their detection appear as a
priority in managing patients with … Reflex Epilepsies (RE) and relative pathogenetic implications

Characterization of Wilms' Tumour 1 (Wt1) as a Biomarker for Fibrosis in Duchenne Muscular Dystrophy

P Murphy - 2019 - search.proquest.com
Duchenne muscular dystrophy (DMD) is the most common inherited pediatric muscle
dystrophy. It is characterized by muscle degeneration, resulting in fibrosis that is a significant …

[图书][B] Clinical molecular medicine: principles and practice

D Kumar - 2019 - books.google.com
… Several thousand CNVs have been discovered in humans, … priority of current biomedical
and biotechnology research. … Considering Duchenne muscular dystrophy, a muscle biopsy …

Forty years from markers to genes

JC Mulley - Twin Research and Human Genetics, 2008 - cambridge.org
… marker mapping became the priority. Chromosome X had … epilepsies is modulated by
genes other than ion channels. … Its mode of discovery and much, much more, fully vin dicates …