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Case Reports
- Poliomyelitis-like syndrome with matching magnetic resonance features in a case of Lyme neuroborreliosisV Charles, T P Duprez, B Kabamba, A Ivanoiu, C J M SindicCase Reports Jan 2009, 2009 bcr0720080527; DOI: 10.1136/bcr.07.2008.0527
- Duplication of the Williams–Beuren critical region: case report and further delineation of the phenotypic spectrumC Orellana, Jordi Bernabeu, Sandra Monfort, Monica Rosello, Juan Silvestre Oltra, Irene Ferrer, Ramiro Quiroga, Isabel Martinez-garay, Francisco MartinezCase Reports Jan 2009, 2009 bcr0820080665; DOI: 10.1136/bcr.08.2008.0665
- Identification of a novel PEX14 mutation in Zellweger syndromeSofie J Huybrechts, Paul P Van Veldhoven, Ilse Hoffman, Renate Zeevaert, Rita de Vos, Philippe Demaerel, Marijke Brams, Jaak Jaeken, Marc Fransen, David CassimanCase Reports Jan 2009, 2009 bcr0720080503; DOI: 10.1136/bcr.07.2008.0503
- C34T mutation of the AMPD1 gene in an elite white runnerAlejandro Lucia, Miguel A Martin, Jonathan Esteve-Lanao, Alejandro F San Juan, Juan C Rubio, Jesús Oliván, Joaquín ArenasCase Reports Jan 2009, 2009 bcr0720080535; DOI: 10.1136/bcr.07.2008.0535
- Mild clinical expression of Lambert–Eaton myasthenic syndrome in a patient with HIV infectionAndre Truffert, Gilles Allali, Natalia Vokatch, Patrice H LaliveCase Reports Jan 2009, 2009 bcr0820080649; DOI: 10.1136/bcr.08.2008.0649
- A novel founder mutation in the MFN2 gene associated with variable Charcot–Marie–Tooth type 2 phenotype in two families from Southern ItalyMaria Muglia, Giovanni Vazza, Alessandra Patitucci, Micaela Milani, Davide Pareyson, Franco Taroni, Aldo Quattrone, Maria Luisa MostacciuoloCase Reports Jan 2009, 2009 bcr0820080652; DOI: 10.1136/bcr.08.2008.0652
- Hydrocephalus induced choreaNicol Voermans, Pieter Schutte, Bastiaan R BloemCase Reports Jan 2009, 2009 bcr0720080506; DOI: 10.1136/bcr.07.2008.0506
- Non-convulsive status epilepticus causing focal neurological deficits in CADASILPhilipp O Valko, Massimiliano M Siccoli, Andreas Schiller, Heinz G Wieser, Hans H JungCase Reports Jan 2009, 2009 bcr0720080529; DOI: 10.1136/bcr.07.2008.0529
- Reversible limbic encephalitis with antibodies against the membranes of neurones of the hippocampusHaruo Shimazaki, Yoshihito Ando, Imaharu Nakano, Josep DalmauCase Reports Jan 2009, 2009 bcr0720080509; DOI: 10.1136/bcr.07.2008.0509
- An unusual presentation of optic neuritis and the Pulfrich phenomenonMaeve O’Doherty, Ian FlitcroftCase Reports Jan 2009, 2009 bcr0820080647; DOI: 10.1136/bcr.08.2008.0647
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