Genetics of migraine: where are we now?

L Grangeon, KS Lange, M Waliszewska-Prosół… - The Journal of …, 2023 - Springer
Migraine is a complex brain disorder explained by the interaction of genetic and
environmental factors. In monogenic migraines, including familial hemiplegic migraine and …

N omenclature of genetic movement disorders: R ecommendations of the international P arkinson and movement disorder society task force

C Marras, A Lang, BP van de Warrenburg… - Movement …, 2016 - Wiley Online Library
The system of assigning locus symbols to specify chromosomal regions that are associated
with a familial disorder has a number of problems when used as a reference list of …

[HTML][HTML] Três gerações de políticas públicas para a agricultura familiar e formas de interação entre sociedade e estado no Brasil

C Grisa, S Schneider - Revista de economia e sociologia rural, 2014 - SciELO Brasil
Este artigo analisa a trajetória de construção de políticas públicas para a agricultura familiar
no Brasil, procurando enfatizar as" gerações" ou referenciais de políticas públicas …

The evolving spectrum of PRRT2-associated paroxysmal diseases

D Ebrahimi-Fakhari, A Saffari, A Westenberger, C Klein - Brain, 2015 - academic.oup.com
Next-generation sequencing has identified mutations in the PRRT2 (proline-rich
transmembrane protein 2) gene as the leading cause for a wide and yet evolving spectrum …

The expanding universe of disorders of the basal ganglia

JA Obeso, MC Rodriguez-Oroz, M Stamelou, KP Bhatia… - The Lancet, 2014 - thelancet.com
The basal ganglia were originally thought to be associated purely with motor control.
However, dysfunction and pathology of different regions and circuits are now known to give …

The clinical and genetic heterogeneity of paroxysmal dyskinesias

AR Gardiner, F Jaffer, RC Dale, R Labrum, R Erro… - Brain, 2015 - academic.oup.com
Paroxysmal dyskinesia can be subdivided into three clinical syndromes: paroxysmal
kinesigenic dyskinesia or choreoathetosis, paroxysmal exercise-induced dyskinesia, and …

Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification

R Erro, UM Sheerin, KP Bhatia - Movement disorders, 2014 - Wiley Online Library
Paroxysmal movement disorders are a heterogeneous group of conditions manifesting as
episodic dyskinesia with sudden onset and lasting a variable duration. Based on the …

Clinical application of next-generation sequencing to the practice of neurology

J Rexach, H Lee, JA Martinez-Agosto… - The Lancet …, 2019 - thelancet.com
Next-generation sequencing technologies allow for rapid and inexpensive large-scale
genomic analysis, creating unprecedented opportunities to integrate genomic data into the …

The genetics of dystonia: new twists in an old tale

G Charlesworth, KP Bhatia, NW Wood - Brain, 2013 - academic.oup.com
Dystonia is a common movement disorder seen by neurologists in clinic. Genetic forms of
the disease are important to recognize clinically and also provide valuable information about …

Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study

F Riant, C Roos, A Roubertie, C Barbance, J Hadjadj… - Neurology, 2022 - AAN Enterprises
Background and Objective PRRT2 variants have been reported in a few cases of patients
with hemiplegic migraine. To clarify the role of PRRT2 in familial hemiplegic migraine, we …