Results 221 to 230 of about 37,969 (302)

Novel Biallelic PLEKHG5 Variant Associated With Intermediate Charcot-Marie-Tooth Disease: Case Report From South America. [PDF]

J Peripher Nerv Syst
Vidon RO, Tomaselli PJ, Bittar-Braune C, Pitta IJ, de Lacerda GCB, Jardim M.   +5 more
europepmc   +1 more source

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source

Appendiceal Perforation From Muscular Thinning in Limited Cutaneous Systemic Sclerosis: A Case Report. [PDF]

Cureus
Nakamura Y, Fujimoto G, Matsuda S, Kusanagi H.   +3 more
europepmc   +1 more source

UNILATERAL ASCENDING PROGRESSIVE MUSCULAR ATROPHY [PDF]

The Journal of Nervous and Mental Disease, 1912
openaire   +1 more source

An Autopsy Case of Progressive Spinal Muscular Atrophy

, 1962
KOZU SATO, Isamu Nagashima, Hideo Niibe
openalex   +2 more sources

Febrile status epilepticus and epileptogenesis: The FEBSTAT study

Epilepsia Open, EarlyView.
Abstract The multicenter FEBSTAT study (Consequences of Prolonged Febrile Seizures in Childhood: https://grantome.com/grant/NIH/R37‐NS043209‐12; PI S. Shinnar) examined the outcome of febrile status epilepticus (FSE) in over 200 prospectively enrolled infants, with many followed for 10 years after FSE.
Darrell V. Lewis, Douglas R. Nordli Jr., Douglas R. Nordli III, Shlomo Shinnar, Stephen Chan, Jacqueline A. Bello, L. Matthew Frank, James Voyvodic, William Gallentine, Syndi Seinfeld, Yoshimi Sogawa, Erica Weiss, David Masur, Yuan Xu, Solomon L. Moshé   +14 more
wiley   +1 more source

Pharmacokinetics of therapies approved for spinal muscular atrophy: A narrative review of current evidence. [PDF]

J Int Med Res
Sel EK, Gkrinia EMM, Roncato R, Vitezić D, Janković S, Belančić A, EACPT Early Career Clinical Pharmacologists Working Group.   +6 more
europepmc   +1 more source

Validation of a handheld smartphone markerless gait‐analysis tool using an estimated groundline in horses

Equine Veterinary Journal, EarlyView.
Abstract Background A handheld smartphone‐based computer vision algorithm (RealHorse® [RH]) offers accessible alternatives for equine gait analysis but requires validation against a gold‐standard three‐dimensional multicamera optical motion capture system (Qualisys® [QS]).
Karsten Key, Jakob Kirkegaard, Katja Berg, Kristian Ringkjær Andresen, Sabrina Skov Hansen   +4 more
wiley   +1 more source

Effectiveness and safety of Risdiplam for types 1-3 spinal muscular atrophy in a single center. [PDF]

BMC Neurol
Zhu X, Li H, Hu C, Wu M, Zhou S, Wang Y, Li W.   +6 more
europepmc   +1 more source