Browsing Research Articles (Neurology) by Title

Browsing Research Articles (Neurology) by Title

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  • Pretorius, Etheresia; Swanepoel, A.C. (Albe Carina); Buys, A.V. (Antonia Vergina); Vermeulen, Natasha; Duim, Wiebren; Kell, Douglas B. (Impact Journals, 2014-10)
    A major trend in recent Parkinson’s disease (PD) research is the investigation of biological markers that could help in identifying at‐risk individuals or to track disease progression and response to therapies. Central ...
  • Stubgen, Joerg-Patrick (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 ...
  • Lech, James C.; Halma, Matthew T.J.; Obajuluwa, Adejoke O.; Baker, Malcolm Kevin; Hamblin, Michael R. (Sage, 2023-04)
    BACKGROUND : The relationship between the quality of the learning environment and student outcomes is receiving more serious attention from educational psychologists, neurologists, ophthalmologists, orthopedists, surgeons, ...
  • Du Toit, Nicola; Van Coller, Riaan; Anderson, David G.; Carr, Jonathan; Bardien, Soraya (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, ...
  • Corbett, Mark A.; Kroes, Thessa; Veneziano, Liana; Bennett, Mark F.; Florian, Rahel; Schneider, Amy L.; Coppola, Antonietta; Licchetta, Laura; Franceschetti, Silvana; Suppa, Antonio; Wenger, Aaron; Mei, Davide; Pendziwiat, Manuela; Kaya, Sabine; Delledonne, Massimo; Straussberg, Rachel; Xumerle, Luciano; Regan, Brigid; Crompton, Douglas; Van Rootselaar, Anne-Fleur; CorrelL, Anthony; Catford, Rachael; Bisulli, Francesca; Chakraborty, Shreyasee; Baldassari, Sara; Tinuper, Paolo; Barton, Kirston; Carswell, Shaun; Smith, Martin; Berardelli, Alfredo; Carroll, Renee; Gardner, Alison; Friend, Kathryn L.; Blatt, Ilan; Lacomino, Michele; Di Bonaventura, Carlo; Striano, Salvatore; Buratti, Julien; Keren, Boris; Nava, Caroline; Forlani, Sylvie; Rudolf, Gabrielle; Hirsch, Edouard; Leguern, Eric; Labauge, Pierre; Balestrini, Simona; Sander, Josemir W.; Afawi, Zaid; Helbig, Ingo; Ishiura, Hiroyuki; Tsuji, Shoji; Sisodiya, Sanjay M.; Casari, Giorgio; Sadleir, Lynette G.; Van Coller, Riaan; Tijssen, Marina A.J.; Klein, Karl Martin; Van den Maagdenberg, Arn M.J.M.; Zara, Federico; Guerrini, Renzo; Berkovic, Samuel F.; Pippucci, Tommaso; Canafoglia, Laura (Nature Research, 2019-10)
    Familial Adult Myoclonic Epilepsy (FAME) is characterised by cortical myoclonic tremor usually from the second decade of life and overt myoclonic or generalised tonic-clonic seizures. Four independent loci have been ...
  • Mudau, Adziambei; Suleman, Farhana Ebrahim; Schutte, Clara-Maria; Lockhat, Zarina I. (Health and Medical Publishing Group, 2017-11-14)
    Progressive multifocal leucoencephalopathy (PML) is a progressive demyelinating condition resulting from infection with the John Cunningham virus and precipitated by immunocompromised states. The HIV pandemic, especially ...
  • Schutte, Clara-Maria; Van der Meyden, C.H. (Kees); Kakaza, Mandisa; Lockhat, Zarina I.; Van der Walt, Elizabeth (Health and Medical Publishing Group, 2019)
    BACKGROUND: The recent listeriosis outbreak in South Africa (SA) received widespread attention in the media. More than 1 000 laboratoryconfirmed cases of listeriosis occurred during an 18-month period, with a case fatality ...
  • Chetty, Devina; Abrahams, Shameemah; Van Coller, Riaan; Carr, Jonathan; Kenyon, Colin; Bardien, Soraya (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 ...
  • Hiesgen, Juliane; Variava, Ebrahim (Health and Medical Publishing Group, 2015-06-26)
    We report the case of an HIV-positive female patient with neurofibromatosis type 1 who was treated for recurrent peptic ulcer disease and later developed diabetes mellitus and chronic diarrhoea. A metastasising somatostatinoma ...
  • Hiesgen, Juliane (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 ...
  • Van Rooy, Mia-Jeanne; Duim, Wiebren; Ehlers, Rene; Buys, Antoinette V.; Pretorius, Etheresia (BioMed Central, 2015)
    BACKGROUND : Strokes are commonly preceded by transient ischemic attacks (TIAs). TIA is often associated with metabolic syndrome (causing chronic inflammation), resulting in a proinflammatory- and procoagulantenvironment. The ...
  • Carr, Jonathan; Van Coller, Riaan (Health and Medical Publishing Group, 2014-06)
    Neurodegenerative diseases are important causes of disability and death, with prominent examples including Alzheimer’s disease, Parkinson’s disease (PD) and motor neuron disease. Although familial clustering of these ...
  • Stubgen, Joerg-Patrick (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 ...
  • Stubgen, Joerg-Patrick (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 ...
  • Wacker, Douglas; Ludwig, Mike (Springer, 2019-01)
    Neural vasopressin is a potent modulator of behaviour in vertebrates. It acts at both sensory processing regions and within larger regulatory networks to mediate changes in social recognition, affiliation, aggression, ...
  • Mahungu, Amokelani C.; Anderson, David G.; Rossouw, Anastasia C.; Van Coller, Riaan; Carr, Jonathan A.; Ross, Owen A.; Bardien, Soraya (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 ...
  • Schutte, Clara-Maria; Naidoo, Jayendra; Kakaza, Mandisa; Pillay, M.; Hiesgen, Juliane (MedPharm Publications, 2015)
    Inhalation of volatile agents, or solvent abuse, is a dangerous pastime practised by many young adolescents in various parts of the world. Benzine, a distillate of petroleum, is a cheap and readily available solvent that ...
  • Schutte, Clara-Maria; Van der Meyden, C.H. (Kees); Van Niekerk, Linette; Kakaza, Mandisa; Van Coller, Riaan; Ueckermann, Veronica; Oosthuizen, Nicholette M. (Health and Medical Publishing Group, 2016-01)
    The hepatic porphyrias are a group of rare metabolic disorders, each of which is associated with a specific enzymatic alteration in the haem biosynthesis pathway. In South Africa (SA), a high incidence of variegate porphyria ...
  • Schutte, Clara-Maria; Dorfling, Cecilia Maria; Van Coller, Riaan; Honey, E.M.; Jansen van Rensburg, Elizabeth (Health and Medical Publishing Group, 2015-07)
    Autosomal dominantly inherited oculopharyngeal muscular dystrophy (OPMD) is caused by a trinucleotide repeat expansion in exon 1 of the polyadenylate binding protein nuclear 1 (PABPN1) gene on chromosome 14q. A large ...
  • Anderson, D.G.; Van Coller, Riaan; Carr, J. (Health and Medical Publishing Group, 2017-11)
    BACKGROUND : Parkinson’s disease (PD) is a common neurodegenerative disease, associated with severe impairment of quality of life. Although the motor aspects of the illness are typically successfully treated with medications ...