Skeletal muscle disorders

MA Johnson, KMD Bushby, LVB Anderson… - Principles of Medical …, 1996 - Elsevier
Duchenne muscular dystrophy (DMD) and Becker muscular … the basis either of the discovery
of a dystrophin gene deletion … , or of hemolytic anemia with seizures and mental retardation. …

Calpain research for drug discovery: challenges and potential

Y Ono, TC Saido, H Sorimachi - Nature Reviews Drug Discovery, 2016 - nature.com
… Calpain-related disorders have a substantial impact on … used in clinical trials for Duchenne
muscular dystrophy (DMD) 45 , … such as limb-girdle muscular dystrophy type 2A (LGMD2A) 47 …

Transient receptor potential cation channels in disease

B Nilius, G Owsianik, T Voets… - Physiological …, 2007 - journals.physiology.org
… overview of the impact of TRP channels on the pathogenesis … to the discovery of a novel
superfamily of channels called “… symptoms, including seizures and muscle spasms during infancy…

TRP Channels and Human Diseases

B Nilius, R Vennekens - … receptor TRPV1 in drug discovery …, 2010 - Wiley Online Library
… agents interacting with TRP channels is a major priority in the field. Recently… learning and
memory in Morris water maze. These results … epileptic activity in neocortical slices. TRPM4-like …

[HTML][HTML] 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. …

[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 …

BASIC KNOWLEDGE

R McWilliam, I Horrocks - api.taylorfrancis.com
… ) or environmental (as in fetal alcohol effects) but is frequently … 1 per 3500 male births
Duchenne muscular dystrophy (DMD) is … The first priority after a child has had a febrile seizure is to …

Consensus statement on preventive and symptomatic care of leukodystrophy patients

K Van Haren, JL Bonkowsky, G Bernard… - Molecular genetics and …, 2015 - Elsevier
… We also outline the need for future research to prioritize clinical … Gabapentin Chronic
pain/epilepsy Calcium channel … lateral sclerosis; Duchenne's muscular dystrophy) the arrival of …

[HTML][HTML] Peptide-conjugate antisense based splice-correction for Duchenne muscular dystrophy and other neuromuscular diseases

MK Tsoumpra, S Fukumoto, T Matsumoto, S Takeda… - …, 2019 - thelancet.com
Duchenne muscular dystrophy (DMD) is an X-linked disorder characterized by progressive
muscle degeneration, caused by the absence of dystrophin. Exon skipping by antisense …

Comparative studies of water permeability of red blood cells from humans and over 30 animal species: an overview of 20 years of collaboration with Philip Kuchel

G Benga - European Biophysics Journal, 2013 - Springer
… These results indicate that no water channel proteins (WCPs) … I also discovered that we
had many things in common, from … of individual predisposition to epilepsy. This paper was …