Molecular genetics of migraine
B De Vries, RR Frants, MD Ferrari… - Human genetics, 2009 - Springer
Migraine is an episodic neurovascular disorder that is clinically divided into two main
subtypes that are based on the absence or presence of an aura: migraine without aura (MO) …
subtypes that are based on the absence or presence of an aura: migraine without aura (MO) …
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
AH Stam, PH Kothari, A Shaikh, A Gschwendter… - Brain, 2016 - academic.oup.com
See Charidimou (doi: 10.1093/aww253) for a scientific commentary on this article.
Cerebroretinal vasculopathy, hereditary vascular retinopathy, and hereditary …
Cerebroretinal vasculopathy, hereditary vascular retinopathy, and hereditary …
[HTML][HTML] Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
RA Ophoff, GM Terwindt, MN Vergouwe, R van Eijk… - Cell, 1996 - cell.com
Genes for familial hemiplegic migraine (FHM) and episodic ataxia type-2 (EA-2) have been
mapped to chromosome 19p13. We characterized a brain-specific P/Q-type Ca 2+ channel …
mapped to chromosome 19p13. We characterized a brain-specific P/Q-type Ca 2+ channel …
Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation
AH Stam, GJ Luijckx, IB Ginjaar, RR Frants… - Journal of Neurology …, 2009 - jnnp.bmj.com
Objective: To study the clinical spectrum of CACNA1A S218L mutation carriers with special
attention to “early seizures and cerebral oedema after trivial head trauma (ESCEATHT)”, a …
attention to “early seizures and cerebral oedema after trivial head trauma (ESCEATHT)”, a …
A unifying genetic model for facioscapulohumeral muscular dystrophy
RJLF Lemmers, PJ Van der Vliet, R Klooster, S Sacconi… - Science, 2010 - science.org
Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy
in adults that is foremost characterized by progressive wasting of muscles in the upper body …
in adults that is foremost characterized by progressive wasting of muscles in the upper body …
Localization of the gene for Cowden disease to chromosome 10q22–23
MR Nelen, GW Padberg, EAJ Peeters, AY Lin, B Helm… - Nature …, 1996 - nature.com
Abstract Cowden disease (CD)(MIM 158350), or multiple hamartoma syndrome, is a rare
autosomal dominant familial cancer syndrome with a high risk of breast cancer. Its clinical …
autosomal dominant familial cancer syndrome with a high risk of breast cancer. Its clinical …
[PDF][PDF] A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression
AMJM van den Maagdenberg, D Pietrobon… - Neuron, 2004 - cell.com
Migraine is a common, disabling, multifactorial, episodic neurovascular disorder of unknown
etiology. Familial hemiplegic migraine type 1 (FHM-1) is a Mendelian subtype of migraine …
etiology. Familial hemiplegic migraine type 1 (FHM-1) is a Mendelian subtype of migraine …
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
C Wijmenga, JE Hewitt, LA Sandkuijl, LN Clark… - Nature …, 1992 - nature.com
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular
disorder which maps to chromosome 4qter, distal to the D4S139 locus. The cosmid clone …
disorder which maps to chromosome 4qter, distal to the D4S139 locus. The cosmid clone …
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
RJLF Lemmers, R Tawil, LM Petek, J Balog, GJ Block… - Nature …, 2012 - nature.com
Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the
D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 …
D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 …
Genome-wide meta-analysis identifies new susceptibility loci for migraine
Migraine is the most common brain disorder, affecting approximately 14% of the adult
population, but its molecular mechanisms are poorly understood. We report the results of a …
population, but its molecular mechanisms are poorly understood. We report the results of a …