Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing
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
Published in Journal of neurology, neurosurgery and psychiatry (01.07.2012)
Published in Journal of neurology, neurosurgery and psychiatry (01.07.2012)
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Diffuse intraneural perineurioma presenting as bilateral brachial plexopathy
Christopher, Record, Harri, Sivasathiaseelan, Julian, Blake, David, Gosal, Tim, Lavin, Zane, Jaunmuktane, Sebastian, Brandner, Michael, Lunn, Mary, Reilly
Published in Journal of neurology, neurosurgery and psychiatry (28.11.2023)
Published in Journal of neurology, neurosurgery and psychiatry (28.11.2023)
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Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1
Kugathasan, Umaiyal, Evans, Matthew R B, Morrow, Jasper M, Sinclair, Christopher D J, Thornton, John S, Yousry, Tarek A, Hornemann, Thorsten, Suriyanarayanan, Saranya, Owusu-Ansah, Khadijah, Lauria, Giuseppe, Lombardi, Raffaella, Polke, James M, Wilson, Emma, Bennett, David L H, Houlden, Henry, Hanna, Michael G, Blake, Julian C, Laura, Matilde, Reilly, Mary M
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2019)
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2019)
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Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype
Record, Christopher J, O'Connor, Antoinette, Verbeek, Nienke E, van Rheenen, Wouter, Zamba Papanicolaou, Eleni, Peric, Stojan, Ligthart, Peter C, Skorupinska, Mariola, van Binsbergen, Ellen, Campeau, Philippe M, Ivanovic, Vukan, Hennigan, Brian, McHugh, John C, Blake, Julian C, Murakami, Yoshiko, Laura, Matilde, Murphy, Sinéad M, Reilly, Mary M
Published in Annals of neurology (23.10.2024)
Published in Annals of neurology (23.10.2024)
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Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT
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
Published in Neurology (11.04.2017)
Published in Neurology (11.04.2017)
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SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome
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
Published in Neurology (11.10.2016)
Published in Neurology (11.10.2016)
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IGHMBP2 mutation associated with organ-specific autonomic dysfunction
Tomaselli, Pedro J., Horga, Alejandro, Rossor, Alexander M., Jaunmuktane, Zane, Cortese, Andrea, Blake, Julian C., Zarate-Lopez, Natalia, Houlden, Henry, Reilly, Mary M.
Published in Neuromuscular disorders : NMD (01.12.2018)
Published in Neuromuscular disorders : NMD (01.12.2018)
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Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease
Horga, Alejandro, Laurà, Matilde, Jaunmuktane, Zane, Jerath, Nivedita U, Gonzalez, Michael A, Polke, James M, Poh, Roy, Blake, Julian C, Liu, Yo-Tsen, Wiethoff, Sarah, Bettencourt, Conceição, Lunn, Michael PT, Manji, Hadi, Hanna, Michael G, Houlden, Henry, Brandner, Sebastian, Züchner, Stephan, Shy, Michael, Reilly, Mary M
Published in Journal of neurology, neurosurgery and psychiatry (01.07.2017)
Published in Journal of neurology, neurosurgery and psychiatry (01.07.2017)
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Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy
Rebelo, Adriana P., Abrams, Alexander J., Cottenie, Ellen, Horga, Alejandro, Gonzalez, Michael, Bis, Dana M., Sanchez-Mejias, Avencia, Pinto, Milena, Buglo, Elena, Markel, Kasey, Prince, Jeffrey, Laura, Matilde, Houlden, Henry, Blake, Julian, Woodward, Cathy, Sweeney, Mary G., Holton, Janice L., Hanna, Michael, Dallman, Julia E., Auer-Grumbach, Michaela, Reilly, Mary M., Zuchner, Stephan
Published in American journal of human genetics (07.04.2016)
Published in American journal of human genetics (07.04.2016)
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Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia
HORGA, Alejandro, PITCEATHLY, Robert D. S, HANNA, Michael G, REILLY, Mary M, BLAKE, Julian C, WOODWARD, Catherine E, ZAPATER, Pedro, FRATTER, Carl, MUDANOHWO, Ese E, PLANT, Gordon T, HOULDEN, Henry, SWEENEY, Mary G
Published in Brain (London, England : 1878) (01.12.2014)
Published in Brain (London, England : 1878) (01.12.2014)
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A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder
Tomaselli, Pedro J., Rossor, Alexander M., Horga, Alejandro, Laura, Matilde, Blake, Julian C., Houlden, Henry, Reilly, Mary M.
Published in Journal of the peripheral nervous system (01.12.2017)
Published in Journal of the peripheral nervous system (01.12.2017)
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Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre
Bugiardini, Enrico, Khan, Alaa M., Phadke, Rahul, Lynch, David S., Cortese, Andrea, Feng, Lucy, Gang, Qiang, Pittman, Alan M., Morrow, Jasper M., Turner, Chris, Carr, Aisling S., Quinlivan, Ros, Rossor, Alexander M., Holton, Janice L., Parton, Matt, Blake, Julian C., Reilly, Mary M., Houlden, Henry, Matthews, Emma, Hanna, Michael G.
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
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Using Transcranial Magnetic Stimulation to Evaluate the Motor Pathways After an Intraoperative Spinal Cord Injury and to Predict the Recovery of Intraoperative Transcranial Electrical Motor Evoked Potentials: A Case Report
Grover, Helen J, Thornton, Rachel, Lutchman, Lennel N, Blake, Julian C
Published in Journal of clinical neurophysiology (01.06.2016)
Published in Journal of clinical neurophysiology (01.06.2016)
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Pain and small fiber function in charcot-marie-tooth disease type 1A
Laurà, Matilde, Hutton, Elspeth J., Blake, Julian, Lunn, Michael P., Fox, Zoe, Pareyson, Davide, Solari, Alessandra, Radice, Davide, Koltzenburg, Martin, Reilly, Mary M.
Published in Muscle & nerve (01.09.2014)
Published in Muscle & nerve (01.09.2014)
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Rapidly progressive asymmetrical weakness in Charcot–Marie–Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy
Cottenie, Ellen, Menezes, Manoj P, Rossor, Alexander M, Morrow, Jasper M, Yousry, Tarek A, Dick, David J, Anderson, Janice R, Jaunmuktane, Zane, Brandner, Sebastian, Blake, Julian C, Houlden, Henry, Reilly, Mary M
Published in Neuromuscular disorders : NMD (01.05.2013)
Published in Neuromuscular disorders : NMD (01.05.2013)
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Ndrg1 in development and maintenance of the myelin sheath
King, Rosalind H.M, Chandler, David, Lopaticki, Sash, Huang, Dexing, Blake, Julian, Muddle, John R, Kilpatrick, Trevor, Nourallah, Michelle, Miyata, Toshiyuki, Okuda, Tomohiko, Carter, Kim W, Hunter, Michael, Angelicheva, Dora, Morahan, Grant, Kalaydjieva, Luba
Published in Neurobiology of disease (01.06.2011)
Published in Neurobiology of disease (01.06.2011)
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The phenotype of Charcot–Marie–Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy
Houlden, Henry, Laura, Matilde, Ginsberg, Lionel, Jungbluth, Heinz, Robb, Stephanie A, Blake, Julian, Robinson, Susan, King, Rosalind H.M, Reilly, Mary M
Published in Neuromuscular disorders : NMD (01.04.2009)
Published in Neuromuscular disorders : NMD (01.04.2009)
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Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I)
Houlden, Henry, King, Rosalind, Blake, Julian, Groves, Mike, Love, Seth, Woodward, Cathy, Hammans, Simon, Nicoll, James, Lennox, Graham, O'Donovan, Dominic G., Gabriel, Carolyn, Thomas, P. K., Reilly, Mary M.
Published in Brain (London, England : 1878) (01.02.2006)
Published in Brain (London, England : 1878) (01.02.2006)
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Asymmetric sensory ganglionopathy: A case series
Marquez-Infante, Celedonio, Murphy, Sinéad M., Mathew, Liberty, Alsanousi, Ali, Lunn, Michael P., Brandner, Sebastian, Yousry, Tarek A., Blake, Julian, Reilly, Mary M.
Published in Muscle & nerve (01.07.2013)
Published in Muscle & nerve (01.07.2013)
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