Severe childhood encephalopathy with dyskinesia and prolonged cognitive disturbances: evidence for anti‐N‐methyl‐d‐aspartate receptor encephalitis
POLONI, CLAUDIA, KORFF, CHRISTIAN M, RICOTTI, VALERIA, KING, MARY D, PEREZ, ELIANE ROULET, MAYOR‐DUBOIS, CLAIRE, HAENGGELI, CHARLES‐ANTOINE, DEONNA, THIERRY
Published in Developmental medicine and child neurology (01.05.2010)
Published in Developmental medicine and child neurology (01.05.2010)
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A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene
Ferreiro, Ana, Monnier, Nicole, Romero, Norma B., Leroy, Jean-Paul, Bönnemann, Carsten, Haenggeli, Charles-Antoine, Straub, Volker, Voss, Wolfgang D., Nivoche, Yves, Jungbluth, Heinz, Lemainque, Arnaud, Voit, Thomas, Lunardi, Joël, Fardeau, Michel, Guicheney, Pascale
Published in Annals of neurology (01.06.2002)
Published in Annals of neurology (01.06.2002)
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MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother
Dayer, Alexandre G., Bottani, Armand, Bouchardy, Isabelle, Fluss, Joel, Antonarakis, Stylianos E., Haenggeli, Charles-Antoine, Morris, Michael A.
Published in Brain & development (Tokyo. 1979) (2007)
Published in Brain & development (Tokyo. 1979) (2007)
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Multi-minicore disease-searching for boundaries: Phenotype analysis of 38 cases
Ferreiro, Ana, Estournet, Brigitte, Chateau, Danielle, Romero, Norma B., Laroche, Cécile, Odent, Sylvie, Toutain, Annick, Cabello, Ana, Fontan, Daniel, Dos Santos, Heloísa G., Haenggeli, Charles-Antoine, Bertini, Enrico, Urtizberea, Jon-Andoni, Guicheney, Pascale, Fardeau, Michel
Published in Annals of neurology (01.11.2000)
Published in Annals of neurology (01.11.2000)
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Is benign myoclonic epilepsy of infancy truly idiopathic and generalized?
Korff, Christian M, Jallon, Pierre, Lascano, Agustina, Michel, Christoph, Seeck, Margitta, Haenggeli, Charles-Antoine
Published in Epileptic disorders (01.06.2009)
Published in Epileptic disorders (01.06.2009)
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Early onset and rapidly progressive subacute sclerosing panencephalitis after congenital measles infection
CRUZADO, Dounia, MASSEREY-SPICHER, Virginie, ROUX, Laurent, DELAVELLE, Jacqueline, PICARD, Fabienne, HAENGGELI, Charles-Antoine
Published in European journal of pediatrics (01.08.2002)
Published in European journal of pediatrics (01.08.2002)
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Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report
Jenny, Benoit, Radovanovic, Ivan, Haenggeli, Charles-Antoine, Delavelle, Jacqueline, Rüfenacht, Daniel, Kaelin, André, Blouin, Jean-Louis, Bottani, Armand, Rilliet, Bénédict
Published in Journal of neurosurgery (01.10.2007)
Published in Journal of neurosurgery (01.10.2007)
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Plant-induced seizures : reappearance of an old problem
BURKHARD, P. R, BURKHARDT, K, HAENGGELI, C.-A, LANDIS, T
Published in Journal of neurology (01.08.1999)
Published in Journal of neurology (01.08.1999)
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Alexander disease: Early presence of cerebral MRI criteria
Poloni, Claudia B, Ferey, Solène, Haenggeli, Charles-Antoine, Delavelle, Jacqueline, Bottani, Armand, Salomons, Gajja S, Van Der Knaap, Marjo S, Korff, Christian M
Published in European journal of paediatric neurology (01.11.2009)
Published in European journal of paediatric neurology (01.11.2009)
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Journal Article
MEHMO, a novel syndrome: assignment of disease locus to Xp21.1–p22.13
DeLozier-Blanchet, Célia D, Haenggeli, Charles-Antoine, Bottani, Armand
Published in European journal of human genetics : EJHG (01.09.1999)
Published in European journal of human genetics : EJHG (01.09.1999)
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T-type α1H Ca2+ channels are involved in Ca2+ signaling during terminal differentiation (fusion) of human myoblasts
Bijlenga, Philippe, Liu, Jian-Hui, Espinos, Estelle, Haenggeli, Charles-Antoine, Fischer-Lougheed, Jacqueline, Bader, Charles R., Bernheim, Laurent
Published in Proceedings of the National Academy of Sciences - PNAS (20.06.2000)
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Published in Proceedings of the National Academy of Sciences - PNAS (20.06.2000)
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T-type alpha1H Ca2+ channels are involved in Ca2+ signaling during terminal differentiation (fusion) of human myoblasts
Bijlenga, Philippe, Jian-Hui, Liu, Espinos, Estelle, Charles-Antoine Haenggeli
Published in Proceedings of the National Academy of Sciences - PNAS (20.06.2000)
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Published in Proceedings of the National Academy of Sciences - PNAS (20.06.2000)
Journal Article
T-Type α 1H Ca2+Channels Are Involved in Ca2+Signaling during Terminal Differentiation (Fusion) of Human Myoblasts
Bijlenga, Philippe, Liu, Jian-Hui, Espinos, Estelle, Haenggeli, Charles-Antoine, Fischer-Lougheed, Jacqueline, Bader, Charles R., Bernheim, Laurent
Published in Proceedings of the National Academy of Sciences - PNAS (20.06.2000)
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Published in Proceedings of the National Academy of Sciences - PNAS (20.06.2000)
Journal Article
T-type α1H Ca 2+ channels are involved in Ca 2+ signaling during terminal differentiation (fusion) of human myoblasts
Bijlenga, Philippe, Liu, Jian-Hui, Espinos, Estelle, Haenggeli, Charles-Antoine, Fischer-Lougheed, Jacqueline, Bader, Charles R., Bernheim, Laurent
Published in Proceedings of the National Academy of Sciences - PNAS (20.06.2000)
Published in Proceedings of the National Academy of Sciences - PNAS (20.06.2000)
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PCR based mutation screening of the laminin α2 chain gene (LAMA2) : application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy
GUICHENEY, P, VIGNIER, N, TOPALOGLU, H, MORA, M, HARPEY, J.-P, HAENGGELI, C.-A, BAROIS, A, HAINQUE, B, SCHWARTZ, K, TOME, F. M. S, FARDEAU, M, TRYGGVASON, K, XU ZHANG, YI HE, CRUAUD, C, FREY, V, HELBLING-LECLERC, A, RICHARD, P, ESTOURNET, B, MERLINI, L
Published in Journal of medical genetics (1998)
Published in Journal of medical genetics (1998)
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