Resultados da pesquisa - Reilly, Mary M.

Classification and diagnosis of the inherited neuropathies Por Reilly, Mary M.

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Early detection of nerve injury in transthyretin-related familial amyloid polyneuropathy Por Morrow, Jasper M., Reilly, Mary M.

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Humans: the ultimate animal models Por Reilly, Mary M, Rossor, Alexander M

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Knee bobbing in Charcot–Marie-Tooth disease Por Rossor, Alexander M., Murphy, Sinead, Reilly, Mary M.

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A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H Por Houlden, Henry, Hammans, Simon, Katifi, Haider, Reilly, Mary M.

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Sensory neuronopathy associated with cholangiocarcinoma diagnosed 6 years after symptom onset Por Rossor, Alexander M, Blake, Julian, Pissanou, Theodora, Reilly, Mary M

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

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Hip flexor fatigue limits walking in Charcot-Marie-Tooth disease Por RAMDHARRY, GITA M., DAY, BRIAN L., REILLY, MARY M., MARSDEN, JONATHAN F.

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Mutation in FAM134B causing severe hereditary sensory neuropathy Por Murphy, Sinead M, Davidson, Gabrielle L, Brandner, Sebastian, Houlden, Henry, Reilly, Mary M

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

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TDP43 pathology in the brain, spinal cord, and dorsal root ganglia of a patient with FOSMN Por Rossor, Alexander M., Jaunmuktane, Zane, Rossor, Martin N., Hoti, Glen, Reilly, Mary M.

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Ascorbic acid for the treatment of Charcot‐Marie‐Tooth disease Por Gess, Burkhard, Baets, Jonathan, De Jonghe, Peter, Reilly, Mary M, Pareyson, Davide, Young, Peter

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Rydel-Seiffer fork revisited: Beyond a simple case of black and white Por Panosyan, Francis B., Mountain, Joan M., Reilly, Mary M., Shy, Michael E., Herrmann, David N.

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A novel mutation in the FGD4 gene causing Charcot‐Marie‐Tooth disease Por Zis, Panagiotis, Reilly, Mary M., Rao, Dasappaiah G., Tomaselli, Pedro, Rossor, Alex M., Hadjivassiliou, Marios

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Early-Onset Leptomeningeal Manifestation of G47R Hereditary Transthyretin Amyloidosis Por Cechin, Laura, Gasmelseed, Jihad, Bashford, James, Rowczenio, Dorota, Reilly, Mary M., Gillmore, Julian D., Coutinho, Ester

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New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy Por Houlden, Henry, Groves, Mike, Miedzybrodzka, Zosia, Roper, Helen, Willis, Tracey, Winer, John, Cole, Gaynor, Reilly, Mary M

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Severe axonal neuropathy is a late manifestation of SPG11 Por Manole, Andreea, Chelban, Viorica, Haridy, Nourelhoda A., Hamed, Sherifa A., Berardo, Andrés, Reilly, Mary M., Houlden, Henry

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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.

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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.

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Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy Por Rossor, Alexander M., Sleigh, James N., Groves, Michael, Muntoni, Francesco, Reilly, Mary M., Hoogenraad, Casper C., Schiavo, Giampietro

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