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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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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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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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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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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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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Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy
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
Published in Neurology. Genetics (01.08.2017)
Published in Neurology. Genetics (01.08.2017)
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Mitochondrial DNA Depletion Syndrome is Expressed in Amniotic Fluid Cell Cultures
Blake, Julian C., Taanman, Jan-Willem, Morris, Andrew M.M., Gray, R. George F., Cooper, J. Mark, McKiernan, Patrick J., Leonard, James V., Schapira, Anthony H.V.
Published in The American journal of pathology (01.07.1999)
Published in The American journal of pathology (01.07.1999)
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Rapidly progressive asymmetrical weakness in CharcotaMarieaTooth 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)
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Published in Neuromuscular disorders : NMD (01.05.2013)
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Soft Tissue and Regional Musculoskeletal Disease, Fibromyalgia [114–118]
Evans, Sarah, Otter, Simon, Walker-Bone, Karen, Prada, Alejandro, Isasi, Carlos, Campos, Jose, Otón, Teresa, Polo, Jessica, García, Blanca, Mulero, Juan, Gadallah, Naglaa A., El-Hefnawy, Hanan E., El-Arousy, Nadia H., El-Hefnawy, Nadia G., Abdou, Tarek A., El Shafie, Ehab A., El Zohiery, Abeer K., Hider, Samantha L., Whitehurst, David G., Thomas, Elaine, Foster, Nadine E., Devany, Adam J., Musonda, Patrick, Blake, Julian C.
Published in Rheumatology (Oxford, England) (01.04.2010)
Published in Rheumatology (Oxford, England) (01.04.2010)
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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 : JPNS (01.12.2017)
Published in Journal of the peripheral nervous system : JPNS (01.12.2017)
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