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Showing results (121-130 of 346) with videos related to

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Journal of the Neurological Sciences|July 6, 2015
MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectivesGiulia Stuppia, Federica Rizzo, Giulietta Riboldi, et al.
Clinical Parkinsonism & Related Disorders|June 30, 2023
Tremulous spastic ataxia in a patient with a homozygous truncating <i>SYNE1</i> variantFrancesca Spagnolo, Edoardo Monfrini, Vincenza Pinto, et al.
Experimental Hematology|January 1, 1980
Erythropoietic differentiation in humans: in vitro studies on erythroid progenitors and Hb synthesis in fetal, newborn and adult lifeC Peschle, G Migliaccio, A R Migliaccio, et al.
Journal of the Neurological Sciences|May 12, 2009
Transthyretin Asn90 variant: amyloidogenic or non-amyloidogenic roleA Bersano, R Del Bo, E Ballabio, et al.
Journal of Cellular and Molecular Medicine|December 18, 2009
Growth factors in ischemic strokeS Lanfranconi, F Locatelli, S Corti, et al.
Human Genetics|May 1, 1988
A frequent A gamma-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with beta-thalassemiaS Ottolenghi, C Camaschella, P Comi, et al.
Diseases (Basel, Switzerland)|November 21, 2023
Unraveling the Neurological Complexity of Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Protein, and Skin Changes Syndrome: A Report of a Challenging Case of a Young Woman and Cutting-Edge Advancements in the FieldGioconda Furciniti, Giuseppe Casalino, Francesco M Lo Russo, et al.
Human Mutation|October 29, 2002
A collection of 33 novel human mtDNA homoplasmic variantsMarco Crimi, Monica Sciacco, Sara Galbiati, et al.
Case Reports in Neurology|April 15, 2011
Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial PresentationGiulietta Riboldi, Roberto Del Bo, Michela Ranieri, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|August 13, 2021
Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotoniaSara Locci, Rosanna Cardani, Paola Brunori, et al.
Pageof 35

Showing results (121-130 of 346) with videos related to

Sort By:
Pageof 35
Journal of the Neurological Sciences|July 6, 2015
MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectivesGiulia Stuppia, Federica Rizzo, Giulietta Riboldi, et al.
Clinical Parkinsonism & Related Disorders|June 30, 2023
Tremulous spastic ataxia in a patient with a homozygous truncating <i>SYNE1</i> variantFrancesca Spagnolo, Edoardo Monfrini, Vincenza Pinto, et al.
Experimental Hematology|January 1, 1980
Erythropoietic differentiation in humans: in vitro studies on erythroid progenitors and Hb synthesis in fetal, newborn and adult lifeC Peschle, G Migliaccio, A R Migliaccio, et al.
Journal of the Neurological Sciences|May 12, 2009
Transthyretin Asn90 variant: amyloidogenic or non-amyloidogenic roleA Bersano, R Del Bo, E Ballabio, et al.
Journal of Cellular and Molecular Medicine|December 18, 2009
Growth factors in ischemic strokeS Lanfranconi, F Locatelli, S Corti, et al.
Human Genetics|May 1, 1988
A frequent A gamma-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with beta-thalassemiaS Ottolenghi, C Camaschella, P Comi, et al.
Diseases (Basel, Switzerland)|November 21, 2023
Unraveling the Neurological Complexity of Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Protein, and Skin Changes Syndrome: A Report of a Challenging Case of a Young Woman and Cutting-Edge Advancements in the FieldGioconda Furciniti, Giuseppe Casalino, Francesco M Lo Russo, et al.
Human Mutation|October 29, 2002
A collection of 33 novel human mtDNA homoplasmic variantsMarco Crimi, Monica Sciacco, Sara Galbiati, et al.
Case Reports in Neurology|April 15, 2011
Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial PresentationGiulietta Riboldi, Roberto Del Bo, Michela Ranieri, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|August 13, 2021
Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotoniaSara Locci, Rosanna Cardani, Paola Brunori, et al.
Pageof 35