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Browsing Research Articles (Neurology) by Type "Postprint Article"
Now showing items 1-14 of 14
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(Elsevier, 2016-01)The diagnosis of porphyria remains challenging as the condition is characterized by a myriad of clinical and biochemical features. More importantly, an acute attack is associated with increased morbidity and mortality. ...
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(Sage, 2017-06)AIM : This retrospective cohort study analyzes the impact of possible risk factors on the survival chance of patients with cryptococcal meningitis. These factors include the patient's socio-economic background, age, gender, ...
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(Springer, 2011-05)Stroke is one of the leading causes of death worldwide. Formation of a fibrin clot is controlled by a group of tightly regulated plasma proteases and cofactors and a change in the fibrin fiber formation causes an alteration ...
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(Springer, 2008)Facioscapulohumeral muscular dystrophy (FSHD) is not a recognized neuromuscular cause of dysphagia. However, a study of pharyngoesophageal function in FSHD has not been performed or reported. The aim of this study was to ...
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(Springer, 2019-10)G2019S in LRRK2 is the most common mutation associated with Parkinson’s disease (PD). Highest frequencies are in North African Arabic (30–41%) and Ashkenazi Jewish (6–30%) populations, mostly due to founder effects. Here, ...
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(American Medical Association, 2023-04)A 37-year-old man presented to the emergency department with a 3-day history of acute blindness. He had delayed the consultation because of the belief that the symptoms were transient adverse reactions from an overuse of ...
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(Wiley, 2021-07)A pathological hallmark of the neurodegenerative disorder, Parkinson's disease (PD), is aggregation of toxic forms of the presynaptic protein, α-synuclein in structures known as Lewy bodies. α-Synuclein pathology is found ...
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(Springer, 2014-08)Berichtet wird über eine 63 jährige Patientin mit Diabetes mellitus und einer unilateralen Hemichorea-Athetose, bei der eine nicht-ketotische Hyperglykämie als Ursache diagnostiziert wurde. Diese seltene Komplikation im ...
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(Springer, 2008)Rigid spine syndrome (RSS) is a group of childhood-onset muscle disorders characterized by marked limitation of flexion of the spine. Various cardiac changes have been documented in case reports. This study reports on a ...
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(Springer, 2008)The rigid spine syndrome (RSS) is not a recognized cause of dysphagia. The “vacuolar variant” of RSS causes mild, generalized, and slowly progressive weakness. Respiratory evaluation detected severe restrictive chest wall ...
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(Elsevier, 2020-04)Sequence variants in glucocerebrosidase (GBA) are a major genetic risk factor for Parkinson's disease (PD), and display ethnic-dependent frequencies, for example, variants such as p.N370S and 84insGG are common in Ashkenazi ...
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(Karger, 2014-10)Paroxysmal nonkinesigenic dyskinesia (PNKD) causes episodes of treatment-resistant involuntary movements. Previous case reports showed effective treatment of PNKD with deep brain stimulation (DBS). We report 2 patients in ...
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(Elsevier, 2020-01)BACKGROUND : Bobble-head doll syndrome is a rare neurological syndrome presenting with repetitive anteroposterior head movements. It is usually associated with expansile cystic lesions in the third ventricular region. CASE ...
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(BMJ Publishing Group, 2017)Mitochondrial neurogastrointestinal encephalopathy (MNGIE), usually an autosomal-recessive inherited condition, causes gastrointestinal dysmotility, ophthalmoplegia, ptosis, leukoencephalopathy and neuropathy. The chromosome ...
Now showing items 1-14 of 14