The autosomal recessively inherited progressive myoclonus epilepsies and their genes
Ramachandran, Nivetha, Girard, Jean‐Marie, Turnbull, Julie, Minassian, Berge A.
Published in Epilepsia (Copenhagen) (01.05.2009)
Published in Epilepsia (Copenhagen) (01.05.2009)
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Glycogen hyperphosphorylation underlies lafora body formation
Turnbull, Julie, Wang, Peixiang, Girard, Jean-Marie, Ruggieri, Alessandra, Wang, Tony J., Draginov, Arman G., Kameka, Alexander P., Pencea, Nela, Zhao, Xiaochu, Ackerley, Cameron A., Minassian, Berge A.
Published in Annals of neurology (01.12.2010)
Published in Annals of neurology (01.12.2010)
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Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo
Tagliabracci, Vincent S, Turnbull, Julie, Wang, Wei, Girard, Jean-Marie, Zhao, Xiaochu, Skurat, Alexander V, Delgado-Escueta, Antonio V, Minassian, Berge A, DePaoli-Roach, Anna A, Roach, Peter J
Published in Proceedings of the National Academy of Sciences - PNAS (04.12.2007)
Published in Proceedings of the National Academy of Sciences - PNAS (04.12.2007)
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ATP Hydrolysis and Pristinamycin IIA Inhibition of the Staphylococcus aureus Vga(A), a Dual ABC Protein Involved in Streptogramin A Resistance
Jacquet, Eric, Girard, Jean-Marie, Ramaen, Odile, Pamlard, Olivier, Lévaique, Hélène, Betton, Jean-Michel, Dassa, Elie, Chesneau, Olivier
Published in The Journal of biological chemistry (12.09.2008)
Published in The Journal of biological chemistry (12.09.2008)
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22-YEAR-OLD GIRL WITH STATUS EPILEPTICUS AND PROGRESSIVE NEUROLOGICAL SYMPTOMS
Striano, Pasquale, Ackerley, Cameron A., Cervasio, Mariarosaria, Girard, Jean-Marie, Turnbull, Julie, Del Basso-De Caro, Maria Laura, Striano, Salvatore, Zara, Federico, Minassian, Berge A.
Published in Brain pathology (Zurich, Switzerland) (01.10.2009)
Published in Brain pathology (Zurich, Switzerland) (01.10.2009)
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Hyperphosphorylation of Glucosyl C6 Carbons and Altered Structure of Glycogen in the Neurodegenerative Epilepsy Lafora Disease
Nitschke, Felix, Wang, Peixiang, Schmieder, Peter, Girard, Jean-Marie, Awrey, Donald E., Wang, Tony, Israelian, Johan, Zhao, XiaoChu, Turnbull, Julie, Heydenreich, Matthias, Kleinpeter, Erich, Steup, Martin, Minassian, Berge A.
Published in Cell metabolism (07.05.2013)
Published in Cell metabolism (07.05.2013)
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Early-onset Lafora body disease
TURNBULL, Julie, GIRARD, Jean-Marie, TYAGI, Atul, YAN LIU, PENCEA, Nela, XIAOCHU ZHAO, SCHERER, Stephen W, ACKERLEY, Cameron A, MINASSIAN, Berge A, LOHI, Hannes, CHAN, Elayne M, PEIXIANG WANG, TIBERIA, Erica, OMER, Salah, AHMED, Mushtaq, BENNETT, Christopher, CHAKRABARTY, Aruna
Published in Brain (London, England : 1878) (01.09.2012)
Published in Brain (London, England : 1878) (01.09.2012)
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Abnormal Metabolism of Glycogen Phosphate as a Cause for Lafora Disease
Tagliabracci, Vincent S., Girard, Jean Marie, Segvich, Dyann, Meyer, Catalina, Turnbull, Julie, Zhao, Xiaochu, Minassian, Berge A., DePaoli-Roach, Anna A., Roach, Peter J.
Published in The Journal of biological chemistry (05.12.2008)
Published in The Journal of biological chemistry (05.12.2008)
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Journal Article
Typical progression of myoclonic epilepsy of the Lafora type: a case report
Minassian, Berge A, Striano, Pasquale, Zara, Federico, Turnbull, Julie, Girard, Jean-Marie, Ackerley, Cameron A, Cervasio, Mariarosaria, De Rosa, Gaetano, Del Basso-De Caro, Maria Laura, Striano, Salvatore
Published in Nature clinical practice. Neurology (01.02.2008)
Published in Nature clinical practice. Neurology (01.02.2008)
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Phosphorylation prevents polyglucosan transport in Lafora disease
Girard, Jean-Marie, Stone, Scellig S D, Lohi, Hannes, Blaszykowski, Christophe, Teixeira, Catia, Turnbull, Julie, Wang, Afra, Draginov, Arman, Wang, Peixiang, Zhao, Xiao Chu, Ackerley, Cameron A, Frankland, Paul W, Minassian, Berge A
Published in Neurology (03.07.2012)
Published in Neurology (03.07.2012)
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La révolution numérique en radiologie
HOOGEWOUD, Henri-Marcel, GIRARD, Jean-Marie
Published in Revue médicale de la Suisse romande (01.08.2001)
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Published in Revue médicale de la Suisse romande (01.08.2001)
Journal Article
22‐YEAR‐OLD GIRL WITH STATUS EPILEPTICUS AND PROGRESSIVE NEUROLOGICAL SYMPTOMS
Striano, Pasquale, Ackerley, Cameron A., Cervasio, Mariarosaria, Girard, Jean‐Marie, Turnbull, Julie, Del Basso‐De Caro, Maria Laura, Striano, Salvatore, Zara, Federico, Minassian, Berge A.
Published in Brain pathology (Zurich, Switzerland) (01.10.2009)
Published in Brain pathology (Zurich, Switzerland) (01.10.2009)
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22-year-old girl with status epilepticus and progressive neurological symptoms
Striano, Pasquale, Ackerley, Cameron A, Cervasio, Mariarosaria, Girard, Jean-Marie, Turnbull, Julie, Del Basso-De Caro, Maria Laura, Striano, Salvatore, Zara, Federico, Minassian, Berge A
Published in Brain pathology (Zurich, Switzerland) (01.10.2009)
Published in Brain pathology (Zurich, Switzerland) (01.10.2009)
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