Results 151 to 160 of about 7,599,301 (308)
Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen +11 more
wiley +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Registration OPEN: “A common international standard for rare materials cataloguing? Why? And how?”
, 2016 “A common international standard for rare materials cataloguing? Why? And how?” 22nd February 2016, Biblioteca Nacional de Portugal (Lisbon), 10am-6pm Registration is now open for this one-day conference being held at the Biblioteca Nacional de Portugal (
IFLA Rare Books & Special Collections Section
core +1 more source
Multivariable clinical-genetic model for predicting dyskinesia in early-onset Parkinson’s disease
Translational Neurodegeneration, 2021 Yong-Ping Chen +11 more
doaj +1 more source
Jugan geon-gang gwa jilbyeongRare diseases require long-term treatment and management because disease-related information is limited. Furthermore, their causes and symptoms are very complex, which make full recovery and cure very challenging. Accordingly, annual celebrations are held to strengthen patients' and families' will to overcome and improve awareness of rare diseases ...
Kim, Jimin, M, Jiwon
openaire +2 more sources
Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To (1) validate GAD65‐ELISA detection and quantification for type 1 diabetes mellitus and autoimmune neurological diagnoses, (2) correlate ELISA results (reference range < 5 IU/mL) with established radioimmunoprecipitation assay (RIA; ≤ 0.02 nmol/L), and (3) define ELISA clinical utility and pitfalls.
Andrew McKeon +11 more
wiley +1 more source
Unlocking MENA's potential in rare-disease precision medicine. [PDF]
Orphanet J Rare DisTabarki B, Hundallah K, Alfadhel M.
europepmc +1 more source