Søgeresultater - Laurà, Matilde

Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis af Kapoor, Mahima, Rossor, Alexander M., Laura, Matilde, Reilly, Mary M.

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An observational study of asymmetry in CMT1A af Pelayo-Negro, Ana L, Carr, Aisling S, Laura, Matilde, Skorupinska, Mariola, Reilly, Mary M

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Rapid progression of late onset axonal Charcot–Marie–Tooth disease associated with a novel MPZ mutation in the extracellular domain af Laurà, Matilde, Milani, Micaela, Morbin, Michela, Moggio, Maurizio, Ripolone, Michela, Jann, Stefano, Scaioli, Vidmer, Taroni, Franco, Pareyson, Davide

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A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder af Tomaselli, Pedro J., Rossor, Alexander M., Horga, Alejandro, Laura, Matilde, Blake, Julian C., Houlden, Henry, Reilly, Mary M.

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Plasma neurofilament light chain concentration in the inherited peripheral neuropathies af Sandelius, Åsa, Zetterberg, Henrik, Blennow, Kaj, Adiutori, Rocco, Malaspina, Andrea, Laura, Matilde, Reilly, Mary M., Rossor, Alexander M.

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A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot–Marie–Tooth disease af Edgar, James R., Ho, Anita K., Laurá, Matilde, Horvath, Rita, Reilly, Mary M., Luzio, J. Paul, Roberts, Rhys C.

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Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene af Rossor, Alexander M., Morrow, Jasper M., Polke, James M., Murphy, Sinead M., Houlden, Henry, Laura, Matilde, Manji, Hadi, Blake, Julian, Reilly, Mary M.

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Characterization of hypotensive and vasorelaxant effects of PHAR-DBH-Me a new cannabinoid receptor agonist af López-Canales, Oscar Alberto, Pavón, Natalia, Ubaldo-Reyes, Laura Matilde, Juárez-Oropeza, Marco Antonio, Torres-Durán, Patricia Victoria, Regla, Ignacio, Paredes-Carbajal, María Cristina

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Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2 af Murphy, Sinéad M., Ernst, Daniela, Wei, Yu, Laurà, Matilde, Liu, Yo-Tsen, Polke, James, Blake, Julian, Winer, John, Houlden, Henry, Hornemann, Thorsten, Reilly, Mary M.

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Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease af Burns, Joshua, Ouvrier, Robert, Estilow, Tim, Shy, Rosemary, Laurá, Matilde, Eichinger, Kate, Muntoni, Francesco, Reilly, Mary M., Pareyson, Davide, Acsadi, Gyula, Shy, Michael E., Finkel, Richard S.

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Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids af Penno, Anke, Reilly, Mary M., Houlden, Henry, Laurá, Matilde, Rentsch, Katharina, Niederkofler, Vera, Stoeckli, Esther T., Nicholson, Garth, Eichler, Florian, Brown, Robert H., von Eckardstein, Arnold, Hornemann, Thorsten

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X inactivation in females with X-linked Charcot–Marie–Tooth disease af Murphy, Sinéad M., Ovens, Richard, Polke, James, Siskind, Carly E., Laurà, Matilde, Bull, Karen, Ramdharry, Gita, Houlden, Henry, Murphy, Raymond P.J., Shy, Michael E., Reilly, Mary M.

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SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome af Horga, Alejandro, Tomaselli, Pedro J., Gonzalez, Michael A., Laurà, Matilde, Muntoni, Francesco, Manzur, Adnan Y., Hanna, Michael G., Blake, Julian C., Houlden, Henry, Züchner, Stephan, Reilly, Mary M.

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Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease af Cortese, Andrea, Wilcox, Janel E., Polke, James M., Poh, Roy, Skorupinska, Mariola, Rossor, Alexander M., Laura, Matilde, Tomaselli, Pedro J., Houlden, Henry, Shy, Michael E., Reilly, Mary M.

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Validation of the CMT Pediatric Scale as an outcome measure of disability af Burns, Joshua, Ouvrier, Robert, Estilow, Tim, Shy, Rosemary, Laurá, Matilde, Pallant, Julie F., Lek, Monkol, Muntoni, Francesco, Reilly, Mary M., Pareyson, Davide, Acsadi, Gyula, Shy, Michael E., Finkel, Richard S.

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Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis af Sadjadi, Reza, Reilly, Mary M., Shy, Michael E., Pareyson, Davide, Laura, Matilde, Murphy, Sinead, Feely, Shawna M.E., Grider, Tiffany, Bacon, Chelsea, Piscosquito, Giuseppe, Calabrese, Daniela, Burns, Ted M.

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Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity af Ernst, Daniela, Murphy, Sinéad M., Sathiyanadan, Karthik, Wei, Yu, Othman, Alaa, Laurá, Matilde, Liu, Yo-Tsen, Penno, Anke, Blake, Julian, Donaghy, Michael, Houlden, Henry, Reilly, Mary M., Hornemann, Thorsten

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Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation af Liu, Yo-Tsen, Hersheson, Joshua, Plagnol, Vincent, Fawcett, Katherine, Duberley, Kate E C, Preza, Elisavet, Hargreaves, Iain P, Chalasani, Annapurna, Laurá, Matilde, Wood, Nick W, Reilly, Mary M, Houlden, Henry

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Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents and young adults with Charcot-Marie-Tooth disease af Burns, Joshua, Menezes, Manoj, Finkel, Richard S., Estilow, Tim, Moroni, Isabella, Pagliano, Emanuela, Laurá, Matilde, Muntoni, Francesco, Herrmann, David N., Eichinger, Kate, Shy, Rosemary, Pareyson, Davide, Reilly, Mary M., Shy, Michael E.

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Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT af Tomaselli, Pedro J., Rossor, Alexander M., Horga, Alejandro, Jaunmuktane, Zane, Carr, Aisling, Saveri, Paola, Piscosquito, Giuseppe, Pareyson, Davide, Laura, Matilde, Blake, Julian C., Poh, Roy, Polke, James, Houlden, Henry, Reilly, Mary M.

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