Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry
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Matthew T. Sweney | J. Roach | D. Galas | L. Jorde | F. Andermann | F. Zhou | L. Hood | H. Chugani | C. Huff | P. Uldall | E. Andermann | F. Renault | J. Friedman | L. Viollet | K. Swoboda | B. LaSalle | G. Acsadi | L. Ptáček | M. King | M. Zupanc | W. Xin | K. Silver | R. Leventer | T. Newcomb | M. Brunkow | R. Barbano | S. Debrosse | Rachel Tennyson | Kelley J. Murphy | Aga J. Lewelt | T. Sanger | M. A. Sotero de Menezes | R. Rust | A. Collins | M. Massart | Candida Brown | S. Cheyette | Yue Zhang | Benjamin Nelson | M. Mérida | Gwênlyn Glusman | S. Reyna
[1] Matthew T. Sweney,et al. Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry , 2015, PLoS ONE.
[2] K. M. McSweeney,et al. A functional correlate of severity in alternating hemiplegia of childhood , 2015, Neurobiology of Disease.
[3] B. Cormand,et al. Clinical and genetic analysis in alternating hemiplegia of childhood: Ten new patients from Southern Europe , 2014, Journal of the Neurological Sciences.
[4] Hendrik Rosewich,et al. Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome , 2014, Neurology.
[5] R. Velazquez,et al. [Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients]. , 2014, Medicina clínica (Ed. impresa).
[6] F. Russel,et al. Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding. , 2014, Biochimica et biophysica acta.
[7] Hendrik Rosewich,et al. A novel ATP1A3 mutation with unique clinical presentation , 2014, Journal of the Neurological Sciences.
[8] Liping Wei,et al. ATP1A3 Mutations and Genotype-Phenotype Correlation of Alternating Hemiplegia of Childhood in Chinese Patients , 2014, PloS one.
[9] Mohamad A Mikati,et al. Distinct neurological disorders with ATP1A3 mutations , 2014, The Lancet Neurology.
[10] D. Gadsby,et al. Route, mechanism, and implications of proton import during Na+/K+ exchange by native Na+/K+-ATPase pumps , 2014, The Journal of general physiology.
[11] Robert Steinfeld,et al. The expanding clinical and genetic spectrum of ATP1A3-related disorders , 2014, Neurology.
[12] Akihiro Yasuhara,et al. Genotype–phenotype correlations in alternating hemiplegia of childhood , 2014, Neurology.
[13] Steven J. M. Jones,et al. A novel recurrent mutation in ATP1A3 causes CAPOS syndrome , 2014, Orphanet Journal of Rare Diseases.
[14] M. Sobrido,et al. Relationship between Intracellular Na+ Concentration and Reduced Na+ Affinity in Na+,K+-ATPase Mutants Causing Neurological Disease* , 2013, The Journal of Biological Chemistry.
[15] P. Uldall,et al. Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status. , 2013, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
[16] M. Di Michele,et al. Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood. , 2013, Journal of proteomics.
[17] S. Tsuji,et al. Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients , 2013, PloS one.
[18] Allison Brashear,et al. ATP1A3 mutations in infants: a new rapid‐onset dystonia–Parkinsonism phenotype characterized by motor delay and ataxia , 2012, Developmental medicine and child neurology.
[19] Birgit Zirn,et al. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study , 2012, The Lancet Neurology.
[20] L. Ozelius. Clinical spectrum of disease associated with ATP1A3 mutations , 2012, The Lancet Neurology.
[21] David B. Goldstein,et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood , 2012, Nature Genetics.
[22] M. Stacy,et al. New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism. , 2012, Parkinsonism & related disorders.
[23] Jared C. Roach,et al. Kaviar: an accessible system for testing SNV novelty , 2011, Bioinform..
[24] A. Arzimanoglou,et al. Absence of Mutation in the SLC2A1 Gene in a Cohort of Patients with Alternating Hemiplegia of Childhood (AHC) , 2010, Neuropediatrics.
[25] Paul Casaer,et al. Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults. , 2010, Brain : a journal of neurology.
[26] M. Sasaki,et al. Evolution of hemiplegic attacks and epileptic seizures in alternating hemiplegia of childhood , 2010, Epilepsy Research.
[27] A. P. Einholm,et al. The Rapid-onset Dystonia Parkinsonism Mutation D923N of the Na+,K+-ATPase α3 Isoform Disrupts Na+ Interaction at the Third Na+ Site* , 2010, The Journal of Biological Chemistry.
[28] D. Tarsy,et al. Case records of the Massachusetts General Hospital. Case 17-2010 - a 29-year-old woman with flexion of the left hand and foot and difficulty speaking. , 2010, The New England journal of medicine.
[29] Christine Klein,et al. Rapid-onset dystonia-parkinsonism: case report , 2010, Journal of Neurology.
[30] C. Ackerley,et al. Mutation I810N in the α3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS , 2009, Proceedings of the National Academy of Sciences.
[31] Hugo Gutiérrez-de-Terán,et al. A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism. , 2009, Human molecular genetics.
[32] P. Nissen,et al. The C Terminus of Na+,K+-ATPase Controls Na+ Affinity on Both Sides of the Membrane through Arg935*♦ , 2009, The Journal of Biological Chemistry.
[33] Matthew T. Sweney,et al. Alternating Hemiplegia of Childhood: Early Characteristics and Evolution of a Neurodevelopmental Syndrome , 2009 .
[34] Emmanuel Roze,et al. [123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia–parkinsonism , 2008, Journal of the Neurological Sciences.
[35] M. Ferrari,et al. CACNA1A Mutation Linking Hemiplegic Migraine and Alternating Hemiplegia of Childhood , 2008, Cephalalgia : an international journal of headache.
[36] T Gasser,et al. NOVEL ATP1A3 MUTATION IN A SPORADIC RDP PATIENT WITH MINIMAL BENEFIT FROM DEEP BRAIN STIMULATION , 2008, Neurology.
[37] L. Ozelius,et al. ATP1A3 mutation in the first asian case of rapid‐onset dystonia‐parkinsonism , 2007, Movement disorders : official journal of the Movement Disorder Society.
[38] Alexander Münchau,et al. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. , 2007, Brain : a journal of neurology.
[39] B. Vilsen,et al. Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, Associated with Familial Rapid-onset Dystonia Parkinsonism, Interfere with Na+ Interaction by Distinct Mechanisms* , 2006, Journal of Biological Chemistry.
[40] A. Lees,et al. Sporadic rapid‐onset dystonia–parkinsonism presenting as Parkinson's disease , 2006, Movement disorders : official journal of the Movement Disorder Society.
[41] R. Baloh,et al. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures , 2005, Neurology.
[42] N. Bresolin,et al. A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood , 2004, Journal of Medical Genetics.
[43] William B Dobyns,et al. Mutations in the Na+/K+-ATPase α3 Gene ATP1A3 Are Associated with Rapid-Onset Dystonia Parkinsonism , 2004, Neuron.
[44] M. Leppert,et al. Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel ATP1A2 mutation , 2004, Annals of neurology.
[45] N. Van Blercom,et al. Possible sporadic rapid‐onset dystonia–parkinsonism , 2002, Movement disorders : official journal of the Movement Disorder Society.
[46] U Kramer,et al. Alternating hemiplegia of childhood: clinical manifestations and long-term outcome. , 2000, Pediatric neurology.
[47] S. Klauck,et al. A syndrome of autosomal dominant alternating hemiplegia , 1992, Neurology.
[48] N. Sakuragawa. Alternating hemiplegia in childhood: 23 cases in Japan , 1992, Brain and Development.
[49] J. Steele,et al. Alternating hemiplegia in childhood: a report of eight patients with complicated migraine beginning in infancy. , 1971, Pediatrics.
[50] N. Gordon,et al. Alternating hemiplegia of childhood , 2020, Definitions.
[51] E. Kanavakis,et al. Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait , 2003 .
[52] M. Ferrari,et al. Alternating Hemiplegia of Childhood: No Mutations in the Glutamate Transporter EAAT1 , 2006, Neuropediatrics.