Results 141 to 150 of about 297,136 (308)

Severe, Non‐apneic Respiratory Dysfunction and Hypoxia following Generalized Convulsive Seizures

open access: yesAnnals of Neurology, EarlyView.
Objective Sudden unexpected death in epilepsy (SUDEP) is a devastating consequence of some generalized convulsive seizures (GCS). Recent work has focused on seizure related apnea as a biomarker of SUDEP risk, frequently without characterizing the adequacy of non‐apneic ventilation or identifying other dysfunctional breathing patterns.
Haley E. Pysick   +9 more
wiley   +1 more source

Migraine: Diagnosis, treatment and understanding c1960-2010 [PDF]

open access: yes, 2014
seminar transcriptThere are around eight million migraine sufferers in the UK today. This Witness Seminar looked at the last 50 years of research into the diagnosis and treatment of the condition and the changing attitudes of the medical profession ...
Overy, C, Tansey, EM
core  

Tau Pathology in Alzheimer's Disease Uniquely Affects Sulcal Depths

open access: yesAnnals of Neurology, EarlyView.
Objective Though it is widely known that tau deposition affects brain structure, the precise localization of these effects is poorly understood, especially in relation to gyral and sulcal anatomy. We investigated whether tau pathology in Alzheimer's disease (AD) preferentially affects sulci, and particularly sulcal depths.
Samira A. Maboudian   +10 more
wiley   +1 more source

Tension-Type Headache. Systematic review of the most widespread primary headache disorder.

open access: yesJournal of Education, Health and Sport
Tension-type headache (TTH) is a primary headache disorder defined by the International Classification of Headache Disorders 3rd edition (ICHD-3) and is one of the most common types of headache worldwide.
Michał Hładki   +9 more
doaj   +1 more source

Individualized Atrophy‐Based Prediction of Dementia Progression in Familial Frontotemporal Lobar Degeneration With Bayesian Linear Mixed‐Effects Modeling

open access: yesAnnals of Neurology, EarlyView.
Objective Age of symptom onset is highly variable in familial frontotemporal lobar degeneration (f‐FTLD). Accurate prediction of onset would inform clinical management and trial enrollment. Prior studies indicate that individualized maps of brain atrophy can predict conversion to dementia in f‐FTLD.
Shubir Dutt   +82 more
wiley   +1 more source

Diverse Genetic Etiologies of Unilateral Polymicrogyria

open access: yesAnnals of Neurology, EarlyView.
Objective Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.
Abbe Lai   +21 more
wiley   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

open access: yesAnnals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov   +42 more
wiley   +1 more source

Sex‐Specific Genetic Architecture of ALS: Evidence of a Female Protective Effect?

open access: yesAnnals of Neurology, EarlyView.
Background Amyotrophic lateral sclerosis (ALS) shows sex differences in incidence and age of onset, yet the underlying biological mechanisms remain poorly understood. Methods We investigated sex‐specific genetic architecture in an Italian ALS cohort with whole‐genome sequencing (1,333 ALS cases, 755 controls).
Maurizio Grassano   +20 more
wiley   +1 more source

CSF‐Compartmentalized Antibody Glycoprofiles in NMDAR Encephalitis Associate with Etiology and Functional Recovery

open access: yesAnnals of Neurology, EarlyView.
Objective To characterize Fc‐glycosylation profiles in patients with anti‐N‐methyl‐D‐aspartate receptor encephalitis (NMDARe) and assess their association with antibody compartmentalization (cerebrospinal fluid [CSF] vs serum), disease triggers (viral, tumor‐related or idiopathic), and 1‐year outcomes.
Laura Marmolejo   +16 more
wiley   +1 more source

Alternative Translation Initiation in PRKN Delays the Onset of Parkinson's Disease and Offers a Therapeutic Target

open access: yesAnnals of Neurology, EarlyView.
Objective Biallelic variants in PRKN cause autosomal recessive Parkinson's disease (PD) with a median age at onset of 31 years. When evaluating the 16 previously published carriers of a homozygous deletion of Exon 2 from the International Parkinson's Disease and Movement Disorder Society Gene Database (MDSGene) database, the median age at onset is ...
Arian Hach   +14 more
wiley   +1 more source

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