Diverse Genetic Etiologies of Unilateral Polymicrogyria
Annals 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
Annals 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
trigeminal neuralgia: role and neurosurgical indications for peripheral alcohol injections, controlled frequency thermocoagulation, gasserian ganglion compression with balloon and microvascular decompression in posterior cranial fossa. experience in 437 patients. [PDF]
, 2011 Fraioli, B +3 more
core +1 more source
Sex‐Specific Genetic Architecture of ALS: Evidence of a Female Protective Effect?
Annals 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
[Neurovascular conflict in the cerebellopontine angle]. [PDF]
Pan Afr Med J, 2014 Africha T, Touati M.
europepmc +1 more source
Annals 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
Annals 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
The Age at Onset of LRRK2 p.Gly2019Ser Parkinson's Disease Across Ancestries and Countries of Origin
Annals of Neurology, EarlyView.Objectives The objective of this study was to elucidate differences in the cumulative incidence of Leucine‐rich repeat kinase 2 (LRRK2) p.Gly2019Ser‐related Parkinson's disease (PD; LRRK2‐PD) between ancestries and countries. Methods We included 922 unrelated p.Gly2019Ser variant carriers (affected = 762 and unaffected = 160) from the Global Parkinson ...
Theresa Lüth +14 more
wiley +1 more source
Reliability of MRI for predicting characteristics of neurovascular conflicts in trigeminal neuralgia: implications for surgical decision making [PDF]
, 2018 Andrei Brînzeu +2 more
openalex +1 more source