Search Results - "Lamp, Merit"

Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" by Grandis, Marina, Geroldi, Alessandro, Gulli, Rossella, Manganelli, Fiore, Gotta, Fabio, Lamp, Merit, Origone, Paola, Trevisan, Lucia, Gemelli, Chiara, Fabbri, Sabrina, Schenone, Angelo, Tozza, Stefano, Santoro, Lucio, Bellone, Emilia, Mandich, Paola

“…Transthyretin (TTR)-related familial amyloid polyneuropathy (TTR-FAP) is a life-threatening autosomal dominant, systemic disease. First symptoms usually occur…”
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Polymorphisms in MMP-2 and MMP-9 promoter regions are associated with endometriosis by Saare, Merli, M.Sc, Lamp, Merit, M.D, Kaart, Tanel, Ph.D, Karro, Helle, M.D., Ph.D, Kadastik, Ülle, M.D, Metspalu, Andres, M.D., Ph.D, Peters, Maire, Ph.D, Salumets, Andres, Ph.D

“…In this case-control study, we investigated the potential associations of MMP-2 and MMP-9 gene promoter region polymorphisms as well as MMP-2 promoter…”
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Quiz Page February 2015 by Piccoli, Giorgina B., MD, Cimmino, Marco A., MD, Lamp, Merit, MD, Gotta, Fabio, MD, Vigotti, Federica N., MD, Priola, Adriano M., MD, Veltri, Andrea, MD, Mandich, Paola, MD

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A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? by Gotta, Fabio, Lamp, Merit, Geroldi, Alessandro, Trevisan, Lucia, Origone, Paola, Fugazza, Giuseppina, Fabbri, Sabrina, Nesti, Claudia, Rubegni, Anna, Morani, Federica, Santorelli, Filippo Maria, Bellone, Emilia, Mandich, Paola

“…Perrault syndrome is a rare disorder characterized by ovarian dysgenesis, bilateral sensorineural hearing loss and associated with mutations in six…”
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Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients by Lamp, Merit, Origone, Paola, Geroldi, Alessandro, Verdiani, Simonetta, Gotta, Fabio, Caponnetto, Claudia, Devigili, Grazia, Verriello, Lorenzo, Scialò, Carlo, Cabona, Corrado, Canosa, Antonio, Vanni, Irene, Bellone, Emilia, Eleopra, Roberto, Mandich, Paola

“…Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with a heterogeneous genetic background. Because mutation analysis by Sanger sequencing is…”
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Two novel cases of compound heterozygous mutations in mitofusin2: finding out the inheritance by Geroldi, Alessandro, Lastella, Patrizia, Patruno, Margherita, Gotta, Fabio, Resta, Nicoletta, Devigili, Grazia, Sabbà, Carlo, Gulli, Rossella, Lamp, Merit, Origone, Paola, Mandich, Paola, Bellone, Emilia

“…Highlights • Two novel MFN2 compound heterozygous mutations identified • CMT2A patients phenotypes and inheritance pattern are heterogeneous • Extensive study…”
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Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype by Origone, Paola, Accardo, Jennifer, Verdiani, Simonetta, Lamp, Merit, Arnaldi, Dario, Bellone, Emilia, Picco, Agnese, Morbelli, Silvia, Mandich, Paola, Nobili, Flavio

“…Increasing evidence has shown that morphological and functional neuroimaging may help to understand the pathophysiological mechanisms leading to behavioral…”
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Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier by Origone, Paola, Gotta, Fabio, Lamp, Merit, Trevisan, Lucia, Geroldi, Alessandro, Massucco, Davide, Grazzini, Matteo, Massa, Federico, Ticconi, Flavia, Bauckneht, Matteo, Marchese, Roberta, Abbruzzese, Giovanni, Bellone, Emilia, Mandich, Paola

“…Spinocerebellar ataxia 17 (SCA17) is one of the most heterogeneous forms of autosomal dominant cerebellar ataxias with a large clinical spectrum which can…”
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1993–2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa by Mandich, Paola, Lamp, Merit, Gotta, Fabio, Gulli, Rossella, Iacometti, Ariela, Marchese, Roberta, Bellone, Emilia, Abbruzzese, Giovanni, Ferrandes, Giovanna

“…Background Predictive testing for Huntington's disease has been available at the Medical Genetics Unit of the University of Genoa from 1987. In 1989, an…”
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Quiz Page February 2015: Renal Colic in an Adolescent by Piccoli, Giorgina B., Cimmino, Marco A., Lamp, Merit, Gotta, Fabio, Vigotti, Federica N., Priola, Adriano M., Veltri, Andrea, Mandich, Paola

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Polymorphisms in ESR1, ESR2 and HSD17B1 genes are associated with fertility status in endometriosis by Lamp, Merit, Peters, Maire, Reinmaa, Eva, Haller-Kikkatalo, Kadri, Kaart, Tanel, Kadastik, Ülle, Karro, Helle, Metspalu, Andres, Salumets, Andres

“…Objective. To investigate whether polymorphisms in genes involved in biosynthesis and signalling of sex steroids influence susceptibility to endometriosis and…”
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Genetic variations in vascular endothelial growth factor but not in angiotensin I-converting enzyme genes are associated with endometriosis in Estonian women by Lamp, Merit, Saare, Merli, Laisk, Triin, Karro, Helle, Kadastik, Ülle, Metspalu, Andres, Peters, Maire, Salumets, Andres

“…Abstract Objective To determine plausible associations between endometriosis and vascular endothelial growth factor gene ( VEGF −2578 A/C, −1154 G/A, −634 G/C…”
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Survivin promoter polymorphisms and autoantibodies in endometriosis by Lamp, Merit, Saare, Merli, Kadastik, Ülle, Karro, Helle, Salumets, Andres, Uibo, Raivo, Peters, Maire

“…Abstract Expression of survivin, an inhibitor of apoptosis, is increased in endometriotic lesions and probably favors the survival of endometrial fragments in…”
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Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier by Origone, Paola, Gotta, Fabio, Lamp, Merit, Trevisan, Lucia, Geroldi, Alessandro, Massucco, Davide, Grazzini, Matteo, Massa, Federico, Ticconi, Flavia, Bauckneht, Matteo, Marchese, Roberta, Abbruzzese, Giovanni, Bellone, Emilia, Mandich, Paola

“…BACKGROUNDSpinocerebellar ataxia 17 (SCA17) is one of the most heterogeneous forms of autosomal dominant cerebellar ataxias with a large clinical spectrum…”
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Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype by Origone, Paola, Accardo, Jennifer, Verdiani, Simonetta, Lamp, Merit, Arnaldi, Dario, Bellone, Emilia, Picco, Agnese, Morbelli, Silvia, Mandich, Paola, Nobili, Flavio

“…Increasing evidence has shown that morphological and functional neuroimaging may help to understand the pathophysiological mechanisms leading to behavioral…”
Get full text