Humans: the ultimate animal models

Tekijä Reilly, Mary M, Rossor, Alexander M
Julkaisussa J Neurol Neurosurg Psychiatry (2020)

Knee bobbing in Charcot–Marie-Tooth disease

Tekijä Rossor, Alexander M., Murphy, Sinead, Reilly, Mary M.
Julkaistu 2012

Opsoclonus myoclonus syndrome due to squamous cell carcinoma of the oesophagus

Tekijä Rossor, Alexander M, Perry, Fiona, Botha, Abrie, Norwood, Fiona
Julkaistu 2014

Appearance of anti-NMDAR antibodies after plasma exchange and total removal of malignant ovarian teratoma in a patient with paraneoplastic limbic encephalopathy

Tekijä Wali, Sarah M, Cai, Andrew, Rossor, Alexander M, Clough, Christopher
Julkaistu 2011

Sensory neuronopathy associated with cholangiocarcinoma diagnosed 6 years after symptom onset

Tekijä Rossor, Alexander M, Blake, Julian, Pissanou, Theodora, Reilly, Mary M
Julkaisussa BMJ Case Rep (2017)

Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis

Tekijä Kapoor, Mahima, Rossor, Alexander M., Laura, Matilde, Reilly, Mary M.
Julkaisussa J Neuromuscul Dis (2019)

Can compressive thoracic cord lesions cause a pure lower motor neurone syndrome?

Tekijä Kok, Chin Yong, Chandrashekar, Hoskote, Turner, Christopher, Manji, Hadi, Rossor, Alexander M
Julkaisussa Pract Neurol (2019)

TDP43 pathology in the brain, spinal cord, and dorsal root ganglia of a patient with FOSMN

Tekijä Rossor, Alexander M., Jaunmuktane, Zane, Rossor, Martin N., Hoti, Glen, Reilly, Mary M.
Julkaisussa Neurology (2019)

A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder

Tekijä Tomaselli, Pedro J., Rossor, Alexander M., Horga, Alejandro, Laura, Matilde, Blake, Julian C., Houlden, Henry, Reilly, Mary M.
Julkaisussa J Peripher Nerv Syst (2017)

Plasma neurofilament light chain concentration in the inherited peripheral neuropathies

Tekijä Sandelius, Åsa, Zetterberg, Henrik, Blennow, Kaj, Adiutori, Rocco, Malaspina, Andrea, Laura, Matilde, Reilly, Mary M., Rossor, Alexander M.
Julkaisussa Neurology (2018)

Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy

Tekijä Rossor, Alexander M., Sleigh, James N., Groves, Michael, Muntoni, Francesco, Reilly, Mary M., Hoogenraad, Casper C., Schiavo, Giampietro
Julkaisussa Acta Neuropathol Commun (2020)

Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies

Tekijä Burnor, Elisabeth, Yang, Li, Zhou, Hao, Patterson, Kristina R., Quinn, Colin, Reilly, Mary M., Rossor, Alexander M., Scherer, Steven S., Lancaster, Eric
Julkaisussa Neurology (2018)

Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene

Tekijä Rossor, Alexander M., Morrow, Jasper M., Polke, James M., Murphy, Sinead M., Houlden, Henry, Laura, Matilde, Manji, Hadi, Blake, Julian, Reilly, Mary M.
Julkaisussa Neuromuscul Disord (2017)

IGHMBP2 mutation associated with organ-specific autonomic dysfunction

Tekijä Tomaselli, Pedro J., Horga, Alejandro, Rossor, Alexander M., Jaunmuktane, Zane, Cortese, Andrea, Blake, Julian C., Zarate-Lopez, Natalia, Houlden, Henry, Reilly, Mary M.
Julkaisussa Neuromuscul Disord (2018)

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy

Tekijä Bugiardini, Enrico, Rossor, Alexander M., Lynch, David S., Swash, Michael, Pittman, Alan M., Blake, Julian C., Hanna, Michael G., Houlden, Henry, Holton, Janice L., Reilly, Mary M., Matthews, Emma
Julkaisussa Neurol Genet (2017)

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

Tekijä 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.
Julkaisussa Neurology (2020)

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

Tekijä 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.
Julkaisussa Neurology (2017)

Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy

Tekijä Schiza, Natasa, Georgiou, Elena, Kagiava, Alexia, Médard, Jean-Jacques, Richter, Jan, Tryfonos, Christina, Sargiannidou, Irene, Heslegrave, Amanda J, Rossor, Alexander M, Zetterberg, Henrik, Reilly, Mary M, Christodoulou, Christina, Chrast, Roman, Kleopa, Kleopas A
Julkaisussa Brain (2019)

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)

Tekijä Panosyan, Francis B., Laura, Matilde, Rossor, Alexander M., Pisciotta, Chiara, Piscosquito, Giuseppe, Burns, Joshua, Li, Jun, Yum, Sabrina W., Lewis, Richard A., Day, John, Horvath, Rita, Herrmann, David N., Shy, Michael E., Pareyson, Davide, Reilly, Mary M., Scherer, Steven S.
Julkaisussa Neurology (2017)

Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

Tekijä Murphy, Sinead M., Laura, Matilde, Fawcett, Katherine, Pandraud, Amelie, Liu, Yo-Tsen, Davidson, Gabrielle L, Rossor, Alexander M, Polke, James M, Castleman, Victoria, Manji, Hadi, Lunn, Michael P T, Bull, Karen, Ramdharry, Gita, Davis, Mary, Blake, Julian C, Houlden, Henry, Reilly, Mary M
Julkaistu 2012