ATP1A3 Symposium 2013 | Rome, Italy

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Accepted Abstracts

Abstracts for Posters and Oral Presentations
1. Na+/K+-ATPase as a target for cisplatin
Martin Kubala, et al.
Dept. of Biophysics, Faculty of Science, Palacký University in Olomouc, Czech Republic
2. Atp1a3-deficient heterozygous mice show shorter stride and fall latency in hanging box in chronic stress condition
Kawakami Kiyoshi, et al.
Division of Biology, Center for Molecular Medicine, Jichi Medical University, Japan
3. Alternating hemiplegia in childhood – clinical and genetic study
Kemlink David, et al.
Department of Neurology and Center of Clinical Neurosciences, Charles Universtity, Prague, Czech Republic
4. The p.D923N ATP1A3 mutation causes Alternating Hemiplegia of Childhood and Rapid Onset Dystonia-Parkinsonism phenotypes
Roubergue Anne, et al.
Department of Pediatric Neurology, Hôpital Trousseau, Paris, France
5. Establishing a diagnosis and global care national network, for the benefit of patients with a rare neurological disorder
Lesca Gaetan, et al.
Department of Medical Genetics, Lyon University Hospital, France
6. Mutations of ATP1A3 cause rapid-onset dystonia with parkinsonism (RDP) and alternating hemiplegia of childhood (AHC)
Keiko Ikeda, et al.
Department of Biology, Hyogo College of Medicine, Japan
7. Impaired control of intracellular sodium in primary neurons expressing alpha3 rapid-onset dystonia-parkinsonism mutants
Evgeny E. Akkuratov, et al.
Department of Women’s and Children’s Health, Karolinska University Hospital, Stockholm, Sweden
8.
ATP1A3 gene mutations: broadening the clinical spectrum
Elisa De Grandis, et al.
Child Neuropsychiatry, Scientific Institute G. Gaslini, Genoa, Italy
9.
A national registry-based Network for the Research and the Care of the patients affected by Alternating Hemiplegia of Childhood
Rosaria Vavassori, et al.
A.I.S.EA Onlus – Italian Association for Alternating Hemiplegia, Verderio Superiore (LC), Italy
10.
Genotype – Phenotype Correlation in an Italian cohort of 33 Alternating Hemiplegia of Childhood patients: preliminary results
Michela Stagnaro, et al.
Child Neuropsychiatry, IRCCS Sientific Institute G. Gaslini, Genoa, Italy
11.
The Italian White book and The National Guidelines for Alternating Hemiplegia: an essential tool for the comprehensive care
Francesca Ragona, et al.
Pediatric Neuroscience, National Neurological Institute C.Besta, Milan, Italy
12.
A case of Alternating Hemiplegia of Childhood: Clinical and Brain H1 MRI Spectroscopy Findings
Antonio Petrucci, et al.
Neuromuscolar and Neurological Rare Diseases Center, San CAmillo-Forlanini Hospital, Rome, Italy
13.
AHC Multidisciplinary Clinic
Jeffrey Wuchich, et al.
Association CureAHC, Rolesville, NC, USA
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