Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease

Characterization of sedation and anesthesia complications in patients with alternating hemiplegia of childhood

(2022) Lauren E. Parker et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Wilcoxon-Mann-Whitney odds ratio: A statistical measure for ordinal outcomes such as EDSS

(2022) C.W. Howard et al.   Multiple Sclerosis and Related Disorders

Kaplan–Meier Statistics to Estimate Treatment Success: Response

(2022) Magda Silva et al.   JOURNAL OF NEURO-OPHTHALMOLOGY

Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood

(2022) Hannah Stamberger et al.   NEUROLOGY

Hypothalamic-pituitary dysfunction in alternating hemiplegia of childhood

(2021) Keri Wallace et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3Mashl/+, Mouse Model of Alternating Hemiplegia of Childhood

(2021) Arsen S. Hunanyan et al.   HUMAN GENE THERAPY

Revision of the diagnostic criteria of alternating hemiplegia of childhood

(2021) Mohamad A. Mikati et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Paroxysmal Genetic Movement Disorders and Epilepsy

(2021) Claudio M. de Gusmão et al.   Frontiers in Neurology

Outcome Measures for Dementia With Lewy Body Clinical Trials

(2021) Bhavana Patel et al.   ALZHEIMER DISEASE & ASSOCIATED DISORDERS

A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment

(2021) Olga Mitelman et al.   Journal of Neuromuscular Diseases

Social impairments in alternating hemiplegia of childhood

(2020) Julie Uchitel et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Movement disorders in patients with alternating hemiplegia

(2020) Eleni Panagiotakaki et al.   NEUROLOGY

D-DEMØ, a distinct phenotype caused by ATP1A3 mutations

(2020) Lyndsey Prange et al.   Neurology-Genetics

A systematic review finds core outcome set uptake varies widely across different areas of health

(2020) Karen L. Hughes et al.   JOURNAL OF CLINICAL EPIDEMIOLOGY

Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study

(2020) Simona Balestrini et al.   NEUROLOGY

Alternating Hemiplegia of Childhood: gastrointestinal manifestations and correlation with neurological impairments

(2020) Milton Pratt et al.   Orphanet Journal of Rare Diseases

Characterization of Severe and Extreme Behavioral Problems in Patients With Alternating Hemiplegia of Childhood

(2020) Keri Wallace et al.   PEDIATRIC NEUROLOGY

The juvenile gangliosidoses: A timeline of clinical change

(2020) Kelly E. King et al.   Molecular Genetics and Metabolism Reports

Polysomnography Findings and Sleep Disorders in Children With Alternating Hemiplegia of Childhood

(2019) Sujay Kansagra et al.   Journal of Clinical Sleep Medicine

The expanding spectrum of ATP1A3 related disease

(2019) Cecilia Fernandes et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

The epileptology of alternating hemiplegia of childhood

(2019) Julie Uchitel et al.   NEUROLOGY

Mechanisms of increased hippocampal excitability in the Mashl +/− mouse model of Na+ /K+ -ATPase dysfunction

(2018) Arsen S. Hunanyan et al.   EPILEPSIA

Retrospective natural history of thymidine kinase 2 deficiency

(2018) Caterina Garone et al.   JOURNAL OF MEDICAL GENETICS

Novel E815K knock-in mouse model of alternating hemiplegia of childhood

(2018) Ashley R. Helseth et al.   NEUROBIOLOGY OF DISEASE

Cognitive, adaptive, and behavioral profiles and management of alternating hemiplegia of childhood

(2018) Joan M Jasien et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Matching Adherence Interventions to Patient Determinants Using the Theoretical Domains Framework

(2016) Samuel S. Allemann et al.   Frontiers in Pharmacology

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients

(2015) Eleni Panagiotakaki et al.   Orphanet Journal of Rare Diseases

Moving towards best practice when using inverse probability of treatment weighting (IPTW) using the propensity score to estimate causal treatment effects in observational studies

(2015) Peter C. Austin et al.   STATISTICS IN MEDICINE

Knock-in mouse model of alternating hemiplegia of childhood: Behavioral and electrophysiologic characterization

(2014) Arsen S. Hunanyan et al.   EPILEPSIA

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

(2014) V Fridman et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Prospective natural history study of central nervous system hemangioblastomas in von Hippel-Lindau disease

(2014) Russell R. Lonser et al.   JOURNAL OF NEUROSURGERY

The clinical effectiveness of intra-articular corticosteroids for arthritis of the lower limb in juvenile idiopathic arthritis: a systematic review

(2014) Heidi Jennings et al.   Pediatric Rheumatology

Confidence regions for repeated measures ANOVA power curves based on estimated covariance

(2013) Matthew J Gribbin et al.   BMC Medical Research Methodology

Seizure diaries for clinical research and practice: Limitations and future prospects

(2012) Robert S. Fisher et al.   EPILEPSY & BEHAVIOR

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

(2012) Erin L Heinzen et al.   NATURE GENETICS

Long-Term Follow-Up After Gene Therapy for Canavan Disease

(2012) P. Leone et al.   Science Translational Medicine

Natural History of Scoliosis in Nonambulatory Spastic Tetraplegic Cerebral Palsy

(2011) Yaoming Gu et al.   PM&R

Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults

(2010) Eleni Panagiotakaki et al.   BRAIN

Model Choice Can Obscure Results in Longitudinal Studies

(2009) C. H. Morrell et al.   JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES