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Elisabeth Ollagnon Roman

Showing results (1-10 of 14) with videos related to

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Journal of Neurology|April 12, 2007
Familial orbital myositisMaud Jacob, Elisabeth Ollagnon Roman, Alain Vighetto
Molecular Genetics & Genomic Medicine|August 23, 2019
Predictive testing for Huntington disease over 24 years: Evolution of the profile of the participants and analysis of symptomsFrancis Ramond, Isabelle Quadrio, Laurence Le Vavasseur, et al.
Brain : a Journal of Neurology|March 24, 2017
High intra-familiar clinical variability in MORC2 mutated CMT2 patientsClaudio Semplicini, Elisabeth Ollagnon-Roman, Sarah Leonard-Louis, et al.
Neuromuscular Disorders : NMD|April 13, 2016
Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletionMaxime Jouaud, Pierre-Marie Gonnaud, Laurence Richard, et al.
Journal of Neurology|July 27, 2021
Comparative diagnosis interest of NfL and pNfH in CSF and plasma in a context of FTD-ALS spectrumJean Escal, Anthony Fourier, Maité Formaglio, et al.
Archives of Neurology|August 18, 2004
Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14Giovanni Stevanin, Valérie Hahn, Ebba Lohmann, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 30, 2010
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindredsPeter Bauer, Giovanni Stevanin, Christian Beetz, et al.
Nature Genetics|August 24, 2005
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesisOlivier Gribouval, Marie Gonzales, Thomas Neuhaus, et al.
Human Mutation|October 15, 2008
Analysis of the DYSF mutational spectrum in a large cohort of patientsMartin Krahn, Christophe Béroud, Véronique Labelle, et al.
Human Mutation|May 28, 2011
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunctionCyril Goizet, Christel Depienne, Giovanni Benard, et al.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
Journal of Neurology|April 12, 2007
Familial orbital myositisMaud Jacob, Elisabeth Ollagnon Roman, Alain Vighetto
Molecular Genetics & Genomic Medicine|August 23, 2019
Predictive testing for Huntington disease over 24 years: Evolution of the profile of the participants and analysis of symptomsFrancis Ramond, Isabelle Quadrio, Laurence Le Vavasseur, et al.
Brain : a Journal of Neurology|March 24, 2017
High intra-familiar clinical variability in MORC2 mutated CMT2 patientsClaudio Semplicini, Elisabeth Ollagnon-Roman, Sarah Leonard-Louis, et al.
Neuromuscular Disorders : NMD|April 13, 2016
Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletionMaxime Jouaud, Pierre-Marie Gonnaud, Laurence Richard, et al.
Journal of Neurology|July 27, 2021
Comparative diagnosis interest of NfL and pNfH in CSF and plasma in a context of FTD-ALS spectrumJean Escal, Anthony Fourier, Maité Formaglio, et al.
Archives of Neurology|August 18, 2004
Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14Giovanni Stevanin, Valérie Hahn, Ebba Lohmann, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 30, 2010
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindredsPeter Bauer, Giovanni Stevanin, Christian Beetz, et al.
Nature Genetics|August 24, 2005
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesisOlivier Gribouval, Marie Gonzales, Thomas Neuhaus, et al.
Human Mutation|October 15, 2008
Analysis of the DYSF mutational spectrum in a large cohort of patientsMartin Krahn, Christophe Béroud, Véronique Labelle, et al.
Human Mutation|May 28, 2011
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunctionCyril Goizet, Christel Depienne, Giovanni Benard, et al.
Pageof 2