Dystrophin Dp71 and the neuropathophysiology of Duchenne muscular dystrophy
M Naidoo, K Anthony - Molecular Neurobiology, 2020 - Springer
… in the brain has become a high research priority to inform the … and epilepsy compared with
non-epilepsy Duchenne patients [… of the water channel aquaporin-4 and the Kir4.1 potassium …
non-epilepsy Duchenne patients [… of the water channel aquaporin-4 and the Kir4.1 potassium …
Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress
JK Knowles, I Helbig, CS Metcalf, LS Lubbers… - …, 2022 - Wiley Online Library
… epilepsy precision medicine pipeline, from gene discovery to … muscular atrophy (SMA), 56
Duchenne muscular dystrophy, … priority areas, such as understanding the causes of epilepsy, …
Duchenne muscular dystrophy, … priority areas, such as understanding the causes of epilepsy, …
Interleukin-6: A neuro-active cytokine contributing to cognitive impairment in Duchenne muscular dystrophy?
KA Stephenson, MG Rae, D O'Malley - Cytokine, 2020 - Elsevier
… impact upon brain function. As cytokines can modify channels and receptors at both pre-
and post-synaptic membranes [159], this could facilitate deficits in cognition linked to a loss of …
and post-synaptic membranes [159], this could facilitate deficits in cognition linked to a loss of …
Epilepsy in the mTORopathies: molecular mechanisms and precision medicine opportunities
P Moloney - 2023 - repository.rcsi.com
… the clinical significance of genetic variants discovered through … for more efficacious treatments
for DRE remains a priority. … spinal muscular atrophy, Duchenne muscular dystrophy and …
for DRE remains a priority. … spinal muscular atrophy, Duchenne muscular dystrophy and …
Changing landscape of Dravet syndrome management: an overview
D Samanta - Neuropediatrics, 2020 - thieme-connect.com
… a pure seizure reduction by different AEDs to the discovery of … approved medication for
Duchenne muscular dystrophy, has … the rare pediatric disease priority review voucher by the FDA. …
Duchenne muscular dystrophy, has … the rare pediatric disease priority review voucher by the FDA. …
Orphan Drugs in Neurology—A Narrative Review
… specific therapies is not a priority for pharmaceutical companies [… nervous system may lead
to seizures, and the diagnosis is … Duchenne muscular dystrophy (DMD) is a dystrophinopathy …
to seizures, and the diagnosis is … Duchenne muscular dystrophy (DMD) is a dystrophinopathy …
[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 …
seizures may persist beyond early childhood. Mutations of at least four ion channel …
Metabolic dysfunction in spinal muscular atrophy
MO Deguise, L Chehade, R Kothary - International Journal of Molecular …, 2021 - mdpi.com
… Total body water in SMA type I and SMA type II patients is … muscular atrophy with progressive
myoclonic epilepsy (SMA-… be a priority to better medically manage them going forward. …
myoclonic epilepsy (SMA-… be a priority to better medically manage them going forward. …
DNA, a guide to improve our pets' health: a researcher's role in refining genetic testing for dogs and cats
E Beckers - 2023 - biblio.ugent.be
Duchenne muscular dystrophy (DMD, MIM# 310200) is an early-onset, rapidly progressive
neuromuscular disease in humans. Primarily, male individuals are affected by DMD because …
neuromuscular disease in humans. Primarily, male individuals are affected by DMD because …
[HTML][HTML] Nucleic acid–based therapeutics in orphan neurological disorders: Recent developments
O Khorkova, J Hsiao, C Wahlestedt - Frontiers in molecular …, 2021 - frontiersin.org
… These novel mechanisms are frequently discovered in the now … for the treatment of Duchenne
muscular dystrophy (Table 1). … Following treatment, frequency and duration of seizures …
muscular dystrophy (Table 1). … Following treatment, frequency and duration of seizures …