Zobrazeno 1 - 4
of 4
pro vyhledávání: '"ANNEKE GABREëLS-FESTEN"'
Publikováno v:
Annals of the New York Academy of Sciences. 883(1)
The study of the morphological phenotypes in patients with different mutations of the PMP22 gene gives additional insights into the role of the protein in myelin function. The pathology in young patients is in some aspects different from the patholog
Autor:
Anneke Gabreëls-Festen, Berry Kremer, H. Jurgen Schelhaas, Bart P.C. van de Warrenburg, Maaike M. Bos, Machiel J. Zwarts, Catarina J Houtman, Hans Scheffer
Publikováno v:
Journal of Clinical Neurophysiology, 23, 4, pp. 381-7
Journal of Clinical Neurophysiology, 23, 381-7
Journal of Clinical Neurophysiology, 23, 381-7
Contains fulltext : 49430.pdf (Publisher’s version ) (Closed access) The discovery of the gene for Friedreich's ataxia (FRDA) has not only broadened the FRDA phenotype, but has also identified patients with early-onset cerebellar ataxia who resembl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbe22397d9e1463b0fc743ec041e0fc5
https://hdl.handle.net/2066/49430
https://hdl.handle.net/2066/49430
Autor:
AMMAR AL-CHALABI, DORIS-EVA BAMIOU, ROBERT W. BANKS, RICHARD J. BAROHN, TIMOTHY J. BENSTEAD, ALAN R. BERGER, C.-H. BERTHOLD, ADIL E. BHARUCHA, ROLFE BIRCH, HERBERT L. BONKOVSKY, AUGUST M. BOOTH, E. PETER BOSCH, HUGH BOSTOCK, FRANK BRADKE, ROSCOE O. BRADY, STEPHEN BRIMIJOIN, DEBORAH BUCK, RICHARD P. BUNGE, DAVID BURKE, JAMES P. BURKE, TED M. BURNS, MICHAEL CAMILLERI, J. AIDAN CARNEY, COLIN CHALK, PHILLIP F. CHANCE, S.Y. CHIU, MICHAEL P. COLLINS, JOHN H. COOTE, JAMES J. CORBETT, DAVID R. CORNBLATH, T. COWEN, PAULA CUDIA, BASIL T. DARRAS, JENNY L. DAVIES, WILLIAM C. DE GROAT, ANGELA DISPENZIERI, MARY L. DOMBOVY, MICHAEL DONAGHY, PETER J. DYCK, P. JAMES B. DYCK, ANDREW G. ENGEL, JANEAN ENGELSTAD, MARK A. FERRANTE, JOHN P. FRAHER, MASON W. FREEMAN, ROY FREEMAN, THOMAS R. FRITSCHE, ANNEKE GABREëLS-FESTEN, ERNEST D. GARDNER, CATERINA GIANNINI, DONALD H. GILDEN, HANS H. GOEBEL, RALF GOLD, IAN A. GRANT, NORMAN A. GREGSON, JOHN W. GRIFFIN, MICHAEL J. GROVES, THOMAS M. HABERMANN, ANGELIKA F. HAHN, SUSAN HALL, JOHN R. HALLIWILL, MICHAEL G. HANNA, A.E. HARDING, HANS-PETER HARTUNG, STEVEN HERSKOVITZ, AHMET HöKE, RICHARD A.C. HUGHES, CLARE HUXLEY, ROBERT R. JACOBSON, ANN JACOBY, KRISTJÁN R. JESSEN, DAVID M. JOHNSON, H. ROYDEN JONES, MICHAEL J. JOYNER, BASHAR KATIRJI, KENTON R. KAUFMAN, JOHN J. KELLY, WILLIAM R. KENNEDY, MATTHEW C. KIERNAN, BERND C. KIESEIER, JUN KIMURA, R.H.M. KING, JOHN T. KISSEL, CAROLINE M. KLEIN, CHRISTOPHER J. KLEIN, KLEOPAS A. KLEOPA, CHRISTOPHER J. KLINGELE, DAVID L. KREULEN, ROBERT A. KYLE, CATHERINE LACROIX, TERRENCE D. LAGERLUND, EDWARD H. LAMBERT, SALLY N. LAWSON, JACQUELINE A. LEAVITT, P. NIGEL LEIGH, J.G. LLEWELYN, GLENN LOPATE, PHILLIP A. LOW, JAMES R. LUPSKI, LINDA M. LUXON, RUDOLF MARTINI, CHRISTOPHER J. MATHIAS, JUSTIN C. MCARTHUR, ELIZABETH S. MCDONALD, JAMES G. MCLEOD, PHILIP G. MCMANIS, L. JOSEPH MELTON, ALBEE MESSING, VIRGINIA V. MICHELS, RHONA MIRSKY, PETER C. O'BRIEN, GRAHAM M. O'HANLON, GILMORE N. O'NEILL, DAVID J. PATERSON, ALAN PESTRONK, DAVID PLEASURE, JOHN D. POLLARD, MICHAEL POLYDEFKIS, SUDHA POTTUMARTHY, MARY M. REILLY, ANDREA ROBERTSON, GUSTAVO C. ROMAN, MICHAEL C. ROWBOTHAM, MONIQUE M. RYAN, MARTIN RYDMARK, THOMAS D. SABIN, GÉRARD SAID, DAVID S. SAPERSTEIN, FRANCESCO SCARAVILLI, HERBERT H. SCHAUMBURG, STEVEN S. SCHERER, RAPHAEL SCHIFFMANN, MARTIN SCHMELZ, JON J.A. SCOTT, KAZIM SHEIKH, JOHN T. SHEPHERD, MICHAEL E. SHY, WOLFGANG SINGER, BENN E. SMITH, ERIC J. SORENSON, JUDITH M. SPIES, ERIK V. STÅLBERG, J. CLARKE STEVENS, GUIDO STOLL, GUILLERMO A. SUAREZ, UELI SUTER, THOMAS R. SWIFT, BRUCE V. TAYLOR, AYALEW TEFFERI, STEPHEN N. THIBODEAU, P.K. THOMAS, PHILIP D. THOMPSON, ERIK C. THORLAND, D.R. TOMLINSON, ERIK TOREBJÖRK, KLAUS V. TOYKA, JOŽE V. TRONTELJ, KENNETH L. TYLER, B. ULFHAKE, PAUL M. VANHOUTTE, ANNABEL K. WANG, LAURA E. WARNER, HENRY DEF. WEBSTER, ANANDA WEERASURIYA, GWEN WENDELSCHAFER-CRABB, EELCO F.M. WIJDICKS, ASA J. WILBOURN, HUGH J. WILLISON, ANTHONY J. WINDEBANK, HARALD WITTE, JACKIE D. WOOD, BRIAN R. YOUNGE, DOUGLAS W. ZOCHODNE
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f7783bdc4253984dc703440678d22e44
https://doi.org/10.1016/b978-0-7216-9491-7.50002-8
https://doi.org/10.1016/b978-0-7216-9491-7.50002-8
Autor:
Anneke Gabreëls-Festen
Publikováno v:
Journal of Anatomy, 200, 4, pp. 341-56
Journal of Anatomy, 200, 341-56
Journal of Anatomy, 200, 341-56
Item does not contain fulltext Dejerine-Sottas syndrome (DSS) is an early onset demyelinating motor and sensory neuropathy with motor nerve conduction velocities below 12 m s(-1). The phenotype is genetically heterogeneous, and autosomal dominant (AD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5345e2ca10888d94fca652bdedd3ecaf
https://repository.ubn.ru.nl/handle/2066/259667
https://repository.ubn.ru.nl/handle/2066/259667