Results 81 to 90 of about 17,548 (232)

Intraoperative Neurophysiological Monitoring for Endoscopic Endonasal Approaches to the Skull Base: A Technical Guide. [PDF]

open access: yes, 2016
Intraoperative neurophysiological monitoring during endoscopic, endonasal approaches to the skull base is both feasible and safe. Numerous reports have recently emerged from the literature evaluating the efficacy of different neuromonitoring tests during
Doan, Adam T.   +6 more
core   +3 more sources

Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
This study reports novel compound heterozygous LAMA1 variants in two siblings with Poretti‐Boltshauser syndrome presenting with cerebral hypomyelination. It provides the first clinical evidence linking LAMA1 to CNS dysmyelination, expanding the phenotypic spectrum and offering mechanistic insights into this rare association. ABSTRACT Background Poretti‐
Si Huang   +8 more
wiley   +1 more source

Strabismus surgery complicated by levator dehiscence

open access: yesAmerican Journal of Ophthalmology Case Reports
Purpose: Complications of strabismus surgery include residual strabismus, infection, and anterior segment ischemia. We present a rare case of severe ptosis and complete levator aponeurosis dehiscence after strabismus reoperation.
Ari H. August   +2 more
doaj   +1 more source

Congenital Fibrosis of Extraocular Muscles

open access: yesPediatric Neurology Briefs, 1997
The intracranial and orbital pathology and muscle pathology of chromosome 12-linked congenital fibrosis of the extraocular muscles are described in 3 affected members of a family in a report from Children’s Hospital, Harvard Medical School, Boston, and ...
J Gordon Millichap
doaj   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 929-936, April 2026.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona   +15 more
wiley   +1 more source

Extraocular Motor System Exhibits a Higher Expression of Neurotrophins When Compared with Other Brainstem Motor Systems

open access: yesFrontiers in Neuroscience, 2017
Extraocular motoneurons resist degeneration in diseases such as amyotrophic lateral sclerosis. The main objective of the present work was to characterize the presence of neurotrophins in extraocular motoneurons and muscles of the adult rat.
Rosendo G. Hernández   +5 more
doaj   +1 more source

The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician [PDF]

open access: yes, 2013
A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington's disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline ...
Bhatia, KP, Martino, D, Stamelou, M
core  

Factors Regulating the Discharge Frequency in Optomotor Fibres Of Carcinus Maenas [PDF]

open access: yes, 1971
The influence of the excited state of the animal on various motor neurone discharges and accompanying muscle action potentials was studied in the eyestalk of the crab, Carcinus maenas.
Fiore, L., Wiersma, C. A. G.
core  

Scalp‐negative medial temporal interictal epileptic discharges alter large‐scale brain networks: A simultaneous high‐density electroencephalographic and intracranial electroencephalographic study

open access: yesEpilepsia, Volume 67, Issue 4, Page 1992-2006, April 2026.
Abstract Objective Interictal epileptiform discharges (IEDs) observed on scalp electroencephalography (EEG) serve as a diagnostic hallmark of epilepsy. However, only a small fraction of IEDs recorded by intracranial EEG (iEEG) are detectable on the scalp; the vast majority remain invisible on scalp recordings.
Nicolas Roehri   +7 more
wiley   +1 more source

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