MFN2 deletion of exons 7 and 8: founder mutation in the UK population
Carr, Aisling S., Polke, James M., Wilson, Jacob, Pelayo-Negro, Ana L., Laura, Matilde, Nanji, Tina, Holt, James, Vaughan, Jennifer, Rankin, Julia, Sweeney, Mary G., Blake, Julian, Houlden, Henry, Reilly, Mary M.
Published in Journal of the peripheral nervous system (01.06.2015)
Published in Journal of the peripheral nervous system (01.06.2015)
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Journal Article
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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Journal Article
A novel p.Glu175X premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2
Rossor, Alexander M., Davidson, Gabrielle L., Blake, Julian, Polke, James M., Murphy, Sinéad M., Houlden, Henry, Innes, Amy, Kalmar, Bernadett, Greensmith, Linda, Reilly, Mary M.
Published in Journal of the peripheral nervous system (01.06.2012)
Published in Journal of the peripheral nervous system (01.06.2012)
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Journal Article
SARS1 (SerRS) Causing De Novo Dominant Charcot–Marie–Tooth Disease with Slow Conduction
Record, Christopher J., Skorupinksa, Mariola, Zuchner, Stephan, Blake, Julian, Reilly, Mary M.
Published in Annals of neurology (01.12.2023)
Published in Annals of neurology (01.12.2023)
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Journal Article
135 CMT with renal impairment: consider a dip
Doherty, Carolynne, Blake, Julian, Skorupinska, Mariola, Shah, Sachit, Laura, Matilde, Reilly, Mary
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2022)
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2022)
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Journal Article
127 ACTA1 associated myopathy with neurogenic EMG changes
Doherty, Carolynne, Blake, Julian, Manzur, Adnan, Wakeling, Emma, Shah, Sachit, Muntoni, Francesco, Reilly, Mary
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2022)
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2022)
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Journal Article
Post-transcriptional microRNA repression of the dosage-sensitive PMP22 gene in severe demyelinating Charcot-Marie-Tooth disease
Pipis Menelaos, Seongsik, Won, Poh, Roy, Polke, James, Skorupinska Mariola, Blake, Julian, Rossor, Alexander, Matilde, Laura, Svaren, John, Reilly, Mary
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2023)
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2023)
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Journal Article
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease
Record, Christopher J, Pipis, Menelaos, Skorupinska, Mariola, Blake, Julian, Poh, Roy, Polke, James M, Eggleton, Kelly, Nanji, Tina, Zuchner, Stephan, Cortese, Andrea, Houlden, Henry, Rossor, Alexander M, Laura, Matilde, Reilly, Mary M
Published in Brain (London, England : 1878) (03.09.2024)
Published in Brain (London, England : 1878) (03.09.2024)
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A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity
Beijer, Danique, Dohrn, Maike F, Rebelo, Adriana, Danzi, Matt C, Grosz, Bianca Rose, Ellis, Melina, Kumar, Kishore R, Vucic, Steve, Vais, Horia, Weissenrieder, Jillian S, Lunko, Olesia, Paudel, Usha, Simpson, Leah C, Raposo, Jacquelyn, Saporta, Mario, Arcia, Yeisha, Xu, Isaac, Feely, Shawna, Record, Christopher J, Blake, Julian, Reilly, Mary M, Scherer, Steven, Kennerson, Marina, Lee, Yi-Chung, Foskett, J Kevin, Shy, Michael, Zuchner, Stephan
Published in Brain (London, England : 1878) (28.06.2024)
Published in Brain (London, England : 1878) (28.06.2024)
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Journal Article
Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1
Pipis, Menelaos, Won, Seongsik, Poh, Roy, Efthymiou, Stephanie, Polke, James M, Skorupinska, Mariola, Blake, Julian, Rossor, Alexander M, Moran, John J, Munot, Pinki, Muntoni, Francesco, Laura, Matilde, Svaren, John, Reilly, Mary M
Published in Brain (London, England : 1878) (03.10.2023)
Published in Brain (London, England : 1878) (03.10.2023)
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Prognostic factors for response to treatment by corticosteroid injection or surgery in carpal tunnel syndrome (palms study): A prospective multicenter cohort study
Jerosch‐Herold, Christina, Shepstone, Lee, Houghton, Julie, Wilson, Edward C. F., Blake, Julian
Published in Muscle & nerve (01.07.2019)
Published in Muscle & nerve (01.07.2019)
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Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype
Pipis, Menelaos, Cortese, Andrea, Polke, James M, Poh, Roy, Vandrovcova, Jana, Laura, Matilde, Skorupinska, Mariola, Jacquier, Arnaud, Juntas-Morales, Raul, Latour, Philippe, Petiot, Philippe, Sole, Guilhem, Fromes, Yves, Shah, Sachit, Blake, Julian, Choi, Byung-Ok, Chung, Ki Wha, Stojkovic, Tanya, Rossor, Alexander M, Reilly, Mary M
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2022)
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2022)
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Journal Article
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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