Resultados de procura - Laurà, Matilde

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2 por 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.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease por 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.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

X inactivation in females with X-linked Charcot–Marie–Tooth disease por 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.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome por 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.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease por 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.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Validation of the CMT Pediatric Scale as an outcome measure of disability por 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.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis por 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.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents and young adults with Charcot-Marie-Tooth disease por 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.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT por 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.

Ligazón do recurso Ligazón do recurso Ligazón do recurso