Frequency of neuropsychiatric symptoms in non-demented early and late-onset Parkinson’s disease patients
Objective: To compare the frequency of neuropsychiatric symptoms (NPS) (depression, anxiety, psychotic, irritability, aggression, euphoria, apathy, behavioral disinhibition, repetitive motor behavior (RMB) and eating disorder)…Integrated therapy for Functional Movement Disorders: results from a pilot clinic
Objective: To create a novel pilot clinic for the treatment of Functional Movement Disorders (FMD). Background: FMDs are aberrations of motor system functioning in the…Reviewing the clinical and mutational spectrum of SLC20A2, PDGFB, PDGFRB, XPR1 and MYORG mutations in Primary Familial Brain Calcification (PFBC) for MDSGene
Objective: We present the clinical and mutational spectrum of SLC20A2, PDGFB, PDGFRB, XPR1, and MYORG mutations, thereby adding a new gene, MYORG, recently found to…Variants in the beta-Glucocerebrosidase A (GBA) gene in German patients with Parkinson´s disease
Objective: To characterize GBA variants in a cohort of German patients with PD. Background: GBA encodes the lysosomal enzyme beta-glucocerebrosidase A. GBA mutations cause the lysosomal…A novel p.Trp42Arg REEP1 mutation associated with autosomal recessive Distal spinal muscular atrophy with vocal cord and diaphragmatic paralysis
Objective: To present a patient with homozygous mutation in Receptor Expression-Enhancing Protein 1 (REEP1) gene manifesting a severe congenital Distal spinal muscular atrophy (SMA) with…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…GBA mutation: Linking Parkinson’s and Gaucher’s Diseases
Objective: Identify among patients attending the Movement Disorders Unit at the National Institute of Neurology and Neurosurgery, Mexico, if glucocerebrosidase (GBA) mutations were present in…Longitudinal CSF-profile and brain pathology mirrors clinical course of LRRK2-Related Parkinson’s Disease
Objective: Do clinical cognitive profiles and CSF characterisitcs of Abeta1_42, total-tau, phospho-tau and alpha-synuclein during lifetime correspond to histopathological findings post-mortem in LRKK2-associated Parkinson’s disease…Auditory-Perceptual Voice and Speech Evaluation in ATP1A3-positive Patients
Objective: To characterize speech and voice dysfunctions in ATP1A3 mutation positive individuals compared to concurrent mutation negative family controls. Background: Bulbar symptoms are frequent in…NKX2-1-Related Disorder with Cerebral Folate Deficiency
Objective: To describe a patient with a de novo NKX2-1 mutation and low CSF 5-methyltetrahydrofolate (5MTHF) who had mild improvement in fine motor control after…
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