[引用][C] CARDIOMYOPATHIES: INVITED LECTURES

WC Roberts - Neuromuscular Disorders, 1998

[图书][B] Examination paediatrics

W Harris - 2011 - books.google.com
… calcium channel CAE childhood absence epilepsy CAH … muscular atrophy SMCP submucosal
cleft palate SMEB severe myoclonic epilepsy borderline SMEI severe myoclonic epilepsy

The role of the D4Z4 repeat and the KLF15 transcription factor in the facioscapulohumeral muscular dystrophy (FSHD)

P Dmitriev - 2011 - theses.hal.science
… Initially discovered by Duchenne in 1864 as a "descending … muscular dystrophy is the
implication of a particular set of facial … This allowed Landouzy and Déjérine to gain the priority over …

Literature-related discovery: A review

RN Kostoff, JA Block, JL Solka, MB Briggs… - Report to the Office of …, 2007 - apps.dtic.mil
… the problem of interest) is a higher priority discovery candidate than a word or phrase that …
that impact a number of problem characteristics. For example, dehydration (water deficiency) …

[PDF][PDF] Auvin et al.(43) Pub. Date: Jan. 15, 2009

PFR Lassauniere - Drug NeWs Perspect, 1999 - researchgate.net
… of hearing loss or muscular dystrophies. [0070] A subject of the present invention is also a
… The organic phase is recovered and Washed With 50 ml of Water and 50 ml of salt Water. …

Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development

S Li, J Li, W Shi, Z Nie, S Zhang, F Ma, J Hu, J Chen… - Biomolecules, 2023 - mdpi.com
… codon readthrough agent for spinal muscular atrophy (SMA). … , it is crucial to prioritize targeted
delivery of TRIDs to the … not effective in reducing seizure frequency or improving cognitive, …

Separating the wheat from the chaff: the use of upstream regulator analysis to identify true differential expression of single genes within transcriptomic datasets

J Hadwen, S Schock, F Farooq, A MacKenzie… - International Journal of …, 2021 - mdpi.com
… promise (eg, utrophin for Duchenne muscular dystrophy). In the former … In conclusion, we
present a method to prioritize the … impacts in fields as diverse as personalized drug discovery, …

[图书][B] Making ALS matter: Disease activism and disease identity in amyotrophic lateral sclerosis, 1850–2000

JE Clark - 2010 - search.proquest.com
… stand on its own as a research priority. Though Lou Gehrig's diagnosis with … that different
types of seizures with disparate biological … lateral sclerosis, Duchenne muscular dystrophy, and …

Identification of the sphingolipid desaturase DEGS1 as a novel gene for a leukodystrophy in therapeutic hope

DC Pant - 2018 - tdx.cat
… that represent a reliable discovery cohort for the application … to assess variant pathogenicity
and prioritize variants before … spinal muscular atrophy and progressive myoclonus epilepsy

[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 …