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EFNS/ ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.
Published in:
European Journal of Neurology, 2014, v. 21, n. 4, p. 552, doi. 10.1111/ene.12341
By:
- Warrenburg, B. P. C.;
- Gaalen, J.;
- Boesch, S.;
- Burgunder, J. ‐ M.;
- Dürr, A.;
- Giunti, P.;
- Klockgether, T.;
- Mariotti, C.;
- Pandolfo, M.;
- Riess, O.
Publication type:
Article
Huntingtin gene CAG repeat numbers in Chinese patients with Huntington's disease and controls.
Published in:
European Journal of Neurology, 2014, v. 21, n. 4, p. 637, doi. 10.1111/ene.12366
By:
- Jiang, H.;
- Sun, Y. M.;
- Hao, Y.;
- Yan, Y. P.;
- Chen, K.;
- Xin, S. H.;
- Tang, Y. P.;
- Li, X. H.;
- Jun, T.;
- Chen, Y. Y.;
- Liu, Z. J.;
- Wang, C. R.;
- Li, H.;
- Pei, Z.;
- Shang, H. F.;
- Zhang, B. R.;
- Gu, W. H.;
- Wu, Z. Y.;
- Tang, B. S.;
- Burgunder, J. ‐ M.
Publication type:
Article
PRRT2 mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China.
Published in:
European Journal of Neurology, 2014, v. 21, n. 1, p. 174, doi. 10.1111/ene.12122
By:
- Chen, Y. P.;
- Song, W.;
- Yang, J.;
- Zheng, Z.‐Z.;
- Huang, R.;
- Chen, K.;
- Zhao, B.;
- Chen, X. P.;
- Burgunder, J.‐M.;
- Shang, H.‐F.
Publication type:
Article
EFNS review on the role of muscle biopsy in the investigation of myalgia.
Published in:
European Journal of Neurology, 2013, v. 20, n. 7, p. 997, doi. 10.1111/ene.12174
By:
- Kyriakides, T.;
- Angelini, C.;
- Schaefer, J.;
- Mongini, T.;
- Siciliano, G.;
- Sacconi, S.;
- Joseph, J.;
- Burgunder, J. M.;
- Bindoff, L. A.;
- Vissing, J.;
- Visser, M.;
- Hilton ‐ Jones, D.
Publication type:
Article
Assessment of D216H DYT1 polymorphism in a Chinese primary dystonia patient cohort.
Published in:
European Journal of Neurology, 2012, v. 19, n. 6, p. 924, doi. 10.1111/j.1468-1331.2011.03582.x
By:
- Chen, Y.;
- Burgunder, J.-M.;
- Song, W.;
- Huang, R.;
- Shang, H.-F.
Publication type:
Article
EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders.
Published in:
European Journal of Neurology, 2011, v. 18, n. 2, p. 207, doi. 10.1111/j.1468-1331.2010.03069.x
By:
- Burgunder, J.-M.;
- Schöls, L.;
- Baets, J.;
- Andersen, P.;
- Gasser, T.;
- Szolnoki, Z.;
- Fontaine, B.;
- Van Broeckhoven, C.;
- Di Donato, S.;
- De Jonghe, P.;
- Lynch, T.;
- Mariotti, C.;
- Spinazzola, A.;
- Tabrizi, S. J.;
- Tallaksen, C.;
- Zeviani, M.;
- Harbo, H. F.;
- Finsterer, J.
Publication type:
Article
Clinical feature and DYT1 mutation screening in primary dystonia patients from South-West China.
Published in:
European Journal of Neurology, 2010, v. 17, n. 6, p. 846, doi. 10.1111/j.1468-1331.2009.02944.x
By:
- Zhang, S.-S.;
- Fang, D.-F.;
- Hu, X.-H.;
- Burgunder, J.-M.;
- Chen, X.-P.;
- Zhang, Y.-W.;
- Shang, H.-F.
Publication type:
Article
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
Published in:
European Journal of Neurology, 2010, v. 17, n. 5, p. 641, doi. 10.1111/j.1468-1331.2010.02985.x
By:
- Burgunder, J.-M.;
- Finsterer, J.;
- Szolnoki, Z.;
- Fontaine, B.;
- Baets, J.;
- Van Broeckhoven, C.;
- Di Donato, S.;
- De Jonghe, P.;
- Lynch, T.;
- Mariotti, C.;
- Schöls, L.;
- Spinazzola, A.;
- Tabrizi, S. J.;
- Tallaksen, C.;
- Zeviani, M.;
- Harbo, H. F.;
- Gasser, T.
Publication type:
Article
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
Published in:
European Journal of Neurology, 2010, v. 17, n. 2, p. 179, doi. 10.1111/j.1468-1331.2009.02873.x
By:
- Gasser, T.;
- Finsterer, J.;
- Baets, J.;
- Van Broeckhoven, C.;
- Di Donato, S.;
- Fontaine, B.;
- De Jonghe, P.;
- Lossos, A.;
- Lynch, T.;
- Mariotti, C.;
- Schöls, L.;
- Spinazzola, A.;
- Szolnoki, Z.;
- Tabrizi, S. J.;
- Tallaksen, C. M. E.;
- Zeviani, M.;
- Burgunder, J.-M.;
- Harbo, H. F.
Publication type:
Article
EFNS guidelines on the molecular diagnosis of mitochondrial disorders.
Published in:
European Journal of Neurology, 2009, v. 16, n. 12, p. 1255, doi. 10.1111/j.1468-1331.2009.02811.x
By:
- Finsterer, J.;
- Harbo, H. F.;
- Baets, J.;
- Van Broeckhoven, C.;
- Di Donato, S.;
- Fontaine, B.;
- De Jonghe, P.;
- Lossos, A.;
- Lynch, T.;
- Mariotti, C.;
- Schöls, L.;
- Spinazzola, A.;
- Szolnoki, Z.;
- Tabrizi, S. J.;
- Tallaksen, C. M. E.;
- Zeviani, M.;
- Burgunder, J.-M.;
- Gasser, T.
Publication type:
Article
EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias.
Published in:
European Journal of Neurology, 2009, v. 16, n. 7, p. 777, doi. 10.1111/j.1468-1331.2009.02646.x
By:
- Harbo, H. F.;
- Finsterer, J.;
- Baets, J.;
- Van Broeckhoven, C.;
- Di Donato, S.;
- Fontaine, B.;
- De Jonghe, P.;
- Lossos, A.;
- Lynch, T.;
- Mariotti, C.;
- Schöls, L.;
- Spinazzola, A.;
- Szolnoki, Z.;
- Tabrizi, S. J.;
- Tallaksen, C.;
- Zeviani, M.;
- Burgunder, J.-M.;
- Gasser, T.
Publication type:
Article
LRRK2 Gly2385Arg variant is a risk factor of Parkinson’s disease among Han-Chinese from mainland China.
Published in:
European Journal of Neurology, 2008, v. 15, n. 3, p. 301, doi. 10.1111/j.1468-1331.2007.02052.x
By:
- An, X.-K.;
- Peng, R.;
- Li, T.;
- Burgunder, J.-M.;
- Wu, Y.;
- Chen, W.-J.;
- Zhang, J.-H.;
- Wang, Y.-C.;
- Xu, Y.-M.;
- Gou, Y.-R.;
- Yuan, G.-G.;
- Zhang, Z.-J.
Publication type:
Article
Screening of GABA<sub>A</sub>-receptor gene mutations in primary dystonia.
Published in:
European Journal of Neurology, 2007, v. 14, n. 10, p. 1179, doi. 10.1111/j.1468-1331.2007.01910.x
By:
- Shang, H.;
- Lang, D.;
- Burgunder, J.-M.;
- Kaelin-Lang, A.
Publication type:
Article
Clinical and molecular genetic evaluation of patients with primary dystonia.
Published in:
European Journal of Neurology, 2005, v. 12, n. 2, p. 131, doi. 10.1111/j.1468-1331.2004.00974.x
By:
- Shang, H.;
- Clerc, N.;
- Lang, D.;
- Kaelin-Lang, A.;
- Burgunder, J.-M.
Publication type:
Article
Congenital myasthenic syndrome due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene.
Published in:
2002
By:
- Kraner, S.;
- Burgunder, J.-M.;
- Rösler, K. M.;
- Steinlein, O. K.;
- Sieb, J. P.
Publication type:
Case Study
Expression of cholecystokinin and somatostatin genes in the human thalamus.
Published in:
Journal of Comparative Neurology, 1992, v. 324, n. 1, p. 14, doi. 10.1002/cne.903240103
By:
- Burgunder, J.-M.;
- Young, W. S.
Publication type:
Article
Cortical neurons expressing the cholecystokinin gene in the rat: Distribution in the adult brain, ontogeny, and some of their projections.
Published in:
Journal of Comparative Neurology, 1990, v. 300, n. 1, p. 26, doi. 10.1002/cne.903000104
By:
- Burgunder, J.-M.;
- Young, W. S.
Publication type:
Article
Mitochondrial neurogastrointestinal encephalomyopathy in three siblings.
Published in:
Journal of Neurology, 2007, v. 254, n. 2, p. 146, doi. 10.1007/s00415-006-0255-3
By:
- Schüpbach, W. M. M.;
- Vadday, K.;
- Schaller, A.;
- Brekenfeld, C.;
- Kappeler, L.;
- Benoist, J. F.;
- Xuan-Huong, C.;
- Burgunder, J. M.;
- Seibold, F.;
- Gallati, S.;
- Mattle, H. P.
Publication type:
Article
A novel insert mutation in γ-sarcoglycan gene leads to severe childhood autosomal recessive muscular dystrophy.
Published in:
Journal of Neurology, 2002, v. 249, n. 11, p. 1608, doi. 10.1007/s00415-002-0873-3
By:
- Lin, S.;
- Ramelli, G.P.;
- Moser, H.;
- Gallati, S.;
- Burgunder, J.-M.
Publication type:
Article
Disturbed trafficking of dystrophin and associated proteins in targetoid phenomena after chronic muscle denervation.
Published in:
Neuropathology & Applied Neurobiology, 2004, v. 30, n. 3, p. 255, doi. 10.1046/j.0305-1846.2004.00529.x
By:
- von Fellenberg, A.;
- Lin, S.;
- Burgunder, J.-M.
Publication type:
Article
Restoration of dystrophin expression in cultured hybrid myotubes.
Published in:
Neuropathology & Applied Neurobiology, 2002, v. 28, n. 5, p. 397, doi. 10.1046/j.1365-2990.2002.00409.x
By:
- Radojevic, V.;
- Oppliger, C.;
- Gaschen, F.;
- Burgunder, J.-M.
Publication type:
Article
Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.
Published in:
Brain: A Journal of Neurology, 1996, v. 119, n. 5, p. 1487
By:
- Dürr, A.;
- Davoine, C.-S.;
- Paternotte, C.;
- von Fellenberg, J.;
- Cogilnicean, S.;
- Coutinho, P.;
- Lamy, C.;
- Bourgeois, S.;
- Prud'homme, J.-F.;
- Penet, C.;
- Mas, J.-L.;
- Burgunder, J.-M.;
- Hazan, J.;
- Weissenbach, J.;
- Brice, A.;
- Fontaine, B.
Publication type:
Article
Abnormal trafficking of sarcolemmal proteins in α-glucosidase deficiency.
Published in:
Acta Neuropathologica, 2003, v. 105, n. 4, p. 373, doi. 10.1007/s00401-002-0656-z
By:
- Radojevic, V.;
- Humm, A. M.;
- Rösler, K. M.;
- Lauterburg, T.;
- Burgunder, J-M.
Publication type:
Article
Changes of skeletal muscle in young dystrophin-deficient cats: a morphological and morphometric study.
Published in:
Acta Neuropathologica, 2001, v. 101, n. 6, p. 591, doi. 10.1007/s004010000299
By:
- Gaschen, Frédéric;
- Burgunder, J.-M.
Publication type:
Article
Clinical and Molecular Analysis of Chinese Patients with Thyrotoxic Periodic Paralysis.
Published in:
European Neurology, 2003, v. 49, n. 4, p. 227, doi. 10.1159/000070191
By:
- Chen, L.;
- Lang, D.;
- Ran, X. W.;
- Joncourt, F.;
- Gallati, S.;
- Burgunder, J.-M.
Publication type:
Article
Expression of Neuronal Nicotinic Acetylcholine Receptor Subunit Genes in the Rat Autonomic Nervous System.
Published in:
European Journal of Neuroscience, 1994, v. 6, n. 3, p. 478, doi. 10.1111/j.1460-9568.1994.tb00290.x
By:
- Rust, G.;
- Burgunder, J.-M.;
- Lauterburg, T. E.;
- Cachelin, A. B.
Publication type:
Article
Expression of Soluble Guanylyl Cyclase Gene in Adult Rat Brain.
Published in:
European Journal of Neuroscience, 1994, v. 6, n. 2, p. 211, doi. 10.1111/j.1460-9568.1994.tb00263.x
By:
- Burgunder, J.-M.;
- Cheung, P. T.
Publication type:
Article
Haplotype analysis encompassing HTT gene in Chinese patients with Huntington's disease.
Published in:
European Journal of Neurology, 2020, v. 27, n. 2, p. 273, doi. 10.1111/ene.14072
By:
- Li, X.‐Y.;
- Li, H.‐L.;
- Dong, Y.;
- Gao, B.;
- Cheng, H.‐R.;
- Ni, W.;
- Gan, S.‐R.;
- Liu, Z.‐J.;
- Burgunder, J.‐M.;
- Wu, Z.‐Y.
Publication type:
Article
Characterization of social cognition impairment in multiple sclerosis.
Published in:
European Journal of Neurology, 2018, v. 25, n. 1, p. 90, doi. 10.1111/ene.13457
By:
- Neuhaus, M.;
- Bagutti, S.;
- Yaldizli, Ö.;
- Zwahlen, D.;
- Schaub, S.;
- Frey, B.;
- Fischer‐Barnicol, B.;
- Burgunder, J.‐M.;
- Martory, M.‐D.;
- Pöttgen, J.;
- Annoni, J.‐M.;
- Penner, I.‐K.
Publication type:
Article
U7 snRNAs induce correction of mutated dystrophin pre-mRNA by exon skipping.
Published in:
Cellular & Molecular Life Sciences, 2003, v. 60, n. 3, p. 557, doi. 10.1007/s000180300047
By:
- Brun, C.;
- Suter, D.;
- Pauli, C.;
- Dunant, P.;
- Lochmüller, H.;
- Burgunder, J.-M.;
- Schümperli, D.;
- Weis, J.
Publication type:
Article
Differential expression of dystrophin, utrophin, and dystrophin-associated proteins in human muscle culture.
Published in:
Cell & Tissue Research, 2000, v. 300, n. 3, p. 447, doi. 10.1007/s004410000213
By:
- Radojevic, V.;
- Lin, S.;
- Burgunder, J.-M.
Publication type:
Article
Ethanol decreases plasma sulphydryls in man: effect of disulfiram.
Published in:
European Journal of Clinical Investigation, 1988, v. 18, n. 4, p. 420, doi. 10.1111/j.1365-2362.1988.tb01034.x
By:
- BURGUNDER, J.-M.;
- NELLES, J.;
- BILZER, M.;
- LAUTERBURG, B. H.
Publication type:
Article
Decreased production of glutathione in patients with cirrhosis.
Published in:
European Journal of Clinical Investigation, 1987, v. 17, n. 5, p. 408, doi. 10.1111/j.1365-2362.1987.tb01135.x
By:
- BURGUNDER, J.-M.;
- LAUTERBURG, B. H.
Publication type:
Article
EFNS/ENS sutarimas dėl suaugusiųjų lėtinių ataksijų diagnostikos ir gydymo.
Published in:
Neurologijos Seminarai, 2014, v. 18, n. 3, p. 226
By:
- van de Warrenburg, B. P. C.;
- van Gaalen, J.;
- Boesch, S.;
- Burgunder, J.-M.;
- Dürr, A.;
- Giunti, P.;
- Klockgether, T.;
- Mariotti, C.;
- Pandolfo, M.;
- Riess, O.
Publication type:
Article
Disturbed sensorimotor processing during control of precision grip in patients with writer's cramp.
Published in:
2000
By:
- Serrien, Deborah J.;
- Burgunder, Jean-Marc;
- Wiesendanger, Mario;
- Serrien, D J;
- Burgunder, J M;
- Wiesendanger, M
Publication type:
journal article
Prenatal Ontogeny of Growth Hormone Releasing Hormone Expression in Rat Hypothalamus.
Published in:
Developmental Neuroscience, 1991, v. 13, n. 6, p. 397, doi. 10.1159/000112190
By:
- Burgunder, J.-M.
Publication type:
Article
Adenosine A<sub>2A</sub> receptor gene expression in the normal striatum and after 6-OH-dopamine lesion.
Published in:
Journal of Neural Transmission, 2000, v. 107, n. 8/9, p. 851, doi. 10.1007/s007020070037
By:
- Kaelin-Lang, A.;
- Liniger, P.;
- Probst, A.;
- Lauterburg, T.;
- Burgunder, J.-M.
Publication type:
Article

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