Results 121 to 130 of about 11,997 (297)
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan +14 more
wiley +1 more source
Abstract Background Continuous subcutaneous apomorphine infusion (CSAI) is effective in Parkinson's disease but has not been evaluated in multiple system atrophy (MSA). Objective To assess the 6‐month efficacy and tolerability of CSAI in MSA patients. Methods French multicenter retrospective registry‐based analysis of CSAI use in MSA.
Simon Lamy +16 more
wiley +1 more source
Homogenous Cell Transplantation Trials in Parkinson's Disease: A Systematic Review and Meta‐Analysis
Abstract Background The transplantation of homogenous cells has emerged as an investigational strategy for Parkinson's disease (PD), offering an alternative to symptomatic treatment. Objective We performed a systematic review and meta‐analysis to assess its clinical efficacy and safety.
Nolan Reinisch +4 more
wiley +1 more source
HPLC Resolution of the Enantiomers of Dihydroxyphenylalanine and Selected Salsolinol Derivatives Using Sulfated Beta-Cyclodextrin [PDF]
D- and L-dihydroxyphenylalanine (D- and L-DOPA) and enantiomers of the tetrahydroisoquinoline alkaloids salsolinol (SAL), 1-carboxysalsolinol (1-CSAL), and cis-3-carboxysalsolinol (3-CSAL) were chromatographed using sulfated beta -cyclodextrin (S-beta ...
McMurtrey, K. +2 more
core
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño +6 more
wiley +1 more source
Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review
Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini +5 more
wiley +1 more source
Pig kidney 3,4-dihydroxyphenylalanine (dopa) decarboxylase. Primary structure and relationships to other amino acid decarboxylases [PDF]
The complete amino acid sequence of pig kidney 3,4-dihydroxyphenylalanine (Dopa) decarboxylase is reported. The sequence was determined from analysis of peptides isolated after tryptic and cyanogen bromide cleavages of the enzyme. Each subunit is made up
VOLTATTORNI, Carla +4 more
core
The synthesis of 3: 4-dihydroxyphenylalanine [PDF]
openaire +2 more sources
Abstract Background 22q11.2 deletion syndrome (22q11DS) is a multisystem genetic disorder associated with a significantly increased risk of early‐onset Parkinson's disease (EOPD). Management is challenging because psychiatric and cognitive comorbidities often limit advanced therapies such as deep brain stimulation (DBS). Cases We report 2 patients with
Valle Victor Andrés +10 more
wiley +1 more source
Molecular and cellular determinants of L-Dopa-induced dyskinesia in Parkinson’s Disease
Treatment with L-3,4-dihydroxyphenylalanine (L-Dopa) compensates for decreased striatal dopamine (DA) levels and reduces Parkinson’s disease (PD) symptoms.
Federica Servillo +22 more
doaj +1 more source

