Resultats de la cerca - Laurà, Matilde

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet