Homozygous BZRAP1 mutations cause autosomal recessive dystonia
Objective: To report the identification of bi-allelic mutations in BZRAP1, encoding the active zone (AZ) protein RIM-binding protein 1 (RBP1), as a novel cause of…Hyperkinetic Movement Disorders in Congenital Disorders of Glycosylation
Objective: The aim of the current study was to investigate hyperkinetic movement disorders in patients affected by Congenital Disorders of Glycosylation (CDG) and to characterize…Opsoclonus and ataxia in the setting of synchronous primary malignancies
Objective: To present a rare case of opsoclonus with positive anti-Ri (ANNA-2) autoantibodies, secondary to synchronous multiple primary tumors. Background: Opsoclonus refers to involuntary, conjugate, saccadic…Cerebellar involvement in progressive supranuclear palsy and corticobasal degeneration
Objective: To investigate cerebellar involvement in vivo in patients with corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP) using [18F]FDG PET. Background: Cerebellar ataxia is…Modulation of cerebellar and basal ganglia loops affects vestibular processing in Parkinson’s disease
Objective: To investigate physiology of impaired balance control in Parkinson’s Disease and its modulation by deep brain stimulation Background: Postural instability leading to falls is…To respond or not to respond to paired associative stimulation: proof of intervention by cerebello-cortical circuit
Objective: To test whether the non-responder or responder status of primary motor cortex (M1) to an LTP- inducing paired associative stimulation (PAS) protocol in healthy…Tactile and proprioceptive dysfunction differentiates between cervical dystonia with and without tremor
Objective: To evaluate whether tactile and proprioceptive dysfunction in cervical dystonia is associated with co-existing tremor. Background: Cervical dystonia (CD) is characterized by involuntary neck…Two novel ANO10 mutations causing adult-onset autosomal recessive spinocerebellar ataxia
Objective: Clinical and genetic characterization of a patient Background: In recent years mutations more than 100 different genes have been shown to underlie spinocerebellar ataxias.…Microstructural Changes in Basal Ganglia and Cerebellar Networks in Patients with Idiopathic Blepharospasm
Objective: In this study, we aimed to assess structural connectivity alterations in the basal ganglia, thalamus and cerebellum in patients with idiopathic blepharospasm (BS) compared…Exergame training in Early Onset Ataxia patients
Objective: In ambulant EOA children, we aimed to study the effect of a medically designed “ice-skating exergame” on balance, posture and muscle force parameters Background:…
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