Results 61 to 70 of about 187,598 (208)
Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review
Movement Disorders Clinical Practice, EarlyView.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
Disease Models & Mechanisms, 2016 Familial dysautonomia (FD) is a rare neurodegenerative disease caused by a mutation in intron 20 of the IKBKAP gene (c.2204+6T>C), leading to tissue-specific skipping of exon 20 and a decrease in the synthesis of the encoded protein IKAP (also known as ...
Mylène Hervé, El Chérif Ibrahim
doaj +1 more source
Effects of IKAP/hELP1 deficiency on gene expression in differentiating neuroblastoma cells: implications for familial dysautonomia. [PDF]
PLoS ONE, 2011 Familial dysautonomia (FD) is a developmental neuropathy of the sensory and autonomous nervous systems. The IKBKAP gene, encoding the IKAP/hELP1 subunit of the RNA polymerase II Elongator complex is mutated in FD patients, leading to a tissue-specific ...
Rachel Cohen-Kupiec +3 more
doaj +1 more source
Clinical presentation of Crohn's disease. Association between familial disease, smoking, disease phenotype, extraintestinal manifestations and need for surgery [PDF]
, 2005 Background/Aims: Recent molecular data suggest that genetic factors may underlie the disease heterogeneity observed in Crohn's disease (CD). It was also suggested that familial inflammatory bowel disease (IBD) is a homogenous subgroup, phenotypically ...
Gasztonyi, Beáta +16 more
core +2 more sources
Apathy in Parkinson's Disease: Distinguishing Overlapping Symptoms Via Network Analysis
Movement Disorders Clinical Practice, EarlyView.Abstract Background Anxiety, fatigue, and excessive daytime sleepiness (EDS) frequently co‐occur in Parkinson's disease (PD) and can influence the clinical determination of apathy. Objective To distinguish patient‐reported apathy from other non‐motor symptoms.
Joseph Seemiller +6 more
wiley +1 more source
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1998 No ...
+7 more sources
Neurobiology of Disease, 2017 FD is a rare neurodegenerative disorder caused by a mutation of the IKBKAP gene, which induces low expression levels of the Elongator subunit IKAP/hELP1 protein.
Mylène Hervé, El Chérif Ibrahim
doaj +1 more source
Movement Disorders Clinical Practice, EarlyView.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
Arquivos de Neuro-Psiquiatria, 2013 Prion diseases are neurodegenerative illnesses due to the accumulation of small infectious pathogens containing protein but apparently lacking nucleic acid, which have long incubation periods and progress inexorably once clinical symptoms appear.
Abelardo Q-C Araujo
doaj +1 more source
Cardiac-locked bursts of muscle sympathetic nerve activity are absent in familial dysautonomia
, 2013 Familial dysautonomia (Riley–Day syndrome) is an hereditary sensory and autonomic neuropathy (HSAN type III), expressed at birth, that is associated with reduced pain and temperature sensibilities and absent baroreflexes, causing orthostatic hypotension ...
Norcliffe-Kaufmann, Lucy +3 more
core +1 more source