Disease: Hereditary paroxysmal cerebral ataxia
- A sporadic case of benign myoclonus epilepsy of adult onset: its clinical aspects and electroencephalographic, polygraphic study
- Acetazolamide-responsive hereditary paroxysmal ataxia: report of a new family
- Brain Calcification and Movement Disorders
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval
- Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo)
- Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders
- Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder
- Familial hemiplegic migraine, nystagmus, and cerebellar atrophy
- Familial periodic ataxia with myokymia sensitive to acetazolamide: a family case
- Hereditary episodic ataxia
- Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2
- Late onset hereditary episodic ataxia
- Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases
- MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features
- Movement disorders with neuronal antibodies: syndromic approach, genetic parallels and pathophysiology
- Novel detection of mutation in the TECPR2 gene in a Chinese hereditary spastic paraplegia 49 patient: a case report
- Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias
- Recessive spinocerebellar ataxia with paroxysmal cough attacks: a report of five cases
- The dynamic regulation of cortical excitability is altered in episodic ataxia type 2
- The European Reference Network for Rare Neurological Diseases
- Thyroid Disorders and Movement Disorders-A Systematic Review