Results 211 to 220 of about 312,671 (350)

Prevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early‐Onset and Familial Parkinson's Disease

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Leucine‐rich repeat kinase 2 (LRRK2) p.L1795F variant was proposed as a genetic risk factor for Parkinson's disease (PD). However, its prevalence, phenotype, and origin remain unknown. Objective The aim was to evaluate the frequency and phenotype of p.L1795F in early‐onset PD (EOPD) and familial PD compared to healthy controls (HC ...
Miriam Ostrozovicova   +35 more
wiley   +1 more source

Progranulin Mutation Manifesting as Parkinson Disease: A Case Series from the PADUA‐CESNE Cohort

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Mutations in progranulin (GRN) are associated with frontotemporal dementia, although a Parkinson disease (PD) phenotype is uncommon, especially in young patients. Cases We report three subjects from the PADUA‐CESNE cohort, meeting diagnostic criteria for PD, with onset under age 55.
Giulia Bonato   +8 more
wiley   +1 more source

Tea consumption: a cause of constipation? [PDF]

open access: bronze, 1981
Liselotte Højgaard   +3 more
openalex   +1 more source

Impaired Respiratory Function as an Auxiliary Marker for Disease Progression in Different Motor Subtypes of Parkinson's Disease

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background The mechanisms underlying respiratory function impairments in different motor subtypes of Parkinson's disease (PD) remain poorly understood. Objectives This study aims to elucidate the differences in respiratory function between the two main PD motor subtypes, tremor‐dominant (TD) and postural instability gait difficulty (PIGD), and
Zhen Li   +10 more
wiley   +1 more source

Outcome of colectomy for severe idiopathic constipation. [PDF]

open access: bronze, 1988
Michael A. Kamm   +2 more
openalex   +1 more source

Myoclonic Dystonia: A Common Phenomenology in the Pleomorphic Movements of Angelman Syndrome

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Angelman syndrome (AS) is a neurodevelopmental disorder characterized by developmental delay, intellectual disability, a sociable demeanor, and abnormal movements. People with AS often exhibit multiple types of abnormal movements, including nonepileptic myoclonus, tremor, and dystonia, which hamper attempts to identify phenomenology
Robert P. Carson   +8 more
wiley   +1 more source

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