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Pattali R, Mou Y, Li XJ. “AAV9 Vector: A Novel Modality in Gene Therapy for Spinal Muscular Atrophy.” Gene Ther. 2019 Jun 26. Ahead of print. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/31238336

Heinzen EL, Swoboda KJ, Hitomi Y, et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012; 44:1030–1034.

Al-Bulushi B, Al-Hashem A, Tabarki B. “A Wide Clinical Phenotype Spectrum in Patients with ATP1A2 Mutations.” Journal of Childhood Neurology (October 2013).

Jasien J, Bonner M, D’Alli R, Mikati M, et al. Cognitive, Adaptive, and Behavioral Profiles and Management of Alternating Hemiplegia of Childhood. Developmental Medicine & Child Neurology. 2018 Oct 26, 61: 547-554.

Bassi MT, Bresolin N, Tonelli A. “A Novel Mutation in the ATP1A2 Gene Causes Alternating Hemiplegia of Childhood.” Journal of Medical Genetics 41 (2004,): 621-628.

Panagiotakaki E, de Grandis E, Stagnaro M, et al. Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood ‐ a study of 155 patients. Orphanet J Rare Dis 2015;10(1):123.

Rosewich H, Thiele H, Ohlenbusch A, et al. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol. 2012;11(9):764-773.

Save J, Poncelin D, Auvin S. Caregiver’s burden and psychosocial issues in alternating hemiplegia of childhood. Eur J Paediatr Neurol. 2013;17:515–521.

Sweney MT, Newcomb TM, Swoboda KJ. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond. Pediatr Neurol. 2015 Jan;52(1):56-64.

Uchitel J, Abdelnour E, Boggs, A, Mikati, M. Social Impairments in Alternating Hemiplegia of Childhood. Developmental Medicine & Child Neurology. 2020 July, 62 (7); 820-826.