[图书][B] Myopathology: A Practical Clinico-pathological Approach to Skeletal Muscle Biopsies

BL Gaspar, RK Vasishta, BD Radotra - 2018 - books.google.com
… In our institute, for suspected muscular dystrophy we usually sample a moderately affected
biceps or deltoid of an adult and quadriceps of an infant/child. In most institutions, quadriceps …

[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

[HTML][HTML] Demystifying the spontaneous phenomena of motor hyperexcitability

J Bashford, WK Chan, E Coutinho, F Norwood… - Clinical …, 2021 - Elsevier
… Alongside these discoveries, a constellation of similar terms … ALS, spinobulbar muscular
atrophy, peripheral neuropathies … , epilepsy (eg epilepsia partialis continua, juvenile myoclonic …

Developmental Physiology and Pharmacology

S PATEL, RS LITMAN - Litman's Basics of Pediatric Anesthesia, 2022 - books.google.com
… for secretion clearance are priorities and should be coordi… classification11 of epileptic seizures
divides these disorders … developmental myopathies, muscular dystrophies, and metabolic …

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

[HTML][HTML] Associations and disease–disease interactions of COVID-19 with congenital and genetic disorders: a comprehensive review

A Hromić-Jahjefendić, D Barh, CH Ramalho Pinto… - Viruses, 2022 - mdpi.com
… , recommends a surgical priority classification depending on … DS with congenital hydrocephalus
and epilepsy, while case 2 … illnesses in children is Duchenne muscular dystrophy (DMD)…

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

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, …

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) …

Neuromuscular diseases: muscle

SL Hill - Lancet, 2000 - journals.lww.com
… of protein inhibitor of neuronal nitric oxide synthase in duchenne muscular dystrophy. … and
Landouzy-Dejerine concerning the priority in describing the facio-scapulo-humeral muscular

Sciences Neurologiques

DW Zochodne, WA Fletcher, AM Lozano, JA Sharpe… - 2003 - cambridge.org
… must become a priority for childhood epilepsy specialists. … partial seizures (cps), T2
hyperintensity, mass effect and in two … MEG (148 channels) and 32 channels EEG recordings. …