Unusual upper limb features in SORD neuropathy

Authors: Record, Christopher J, Pipis, Menelaos, Blake, Julian, Curro, Riccardo, Lunn, Michael P, Rossor, Alexander M, Laura, Matilde, Cortese, Andrea, Reilly, Mary M

Source: Journal of the peripheral nervous system. 27(2):175-177

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100153872520.0x000001&indx=1&recIds=ETOCvdc_100153872520.0x000001

Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre

Authors: 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.

Source: In Neuromuscular Disorders October 2019 29(10):747-757

Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.

Authors: Record, Christopher J¹, Pipis, Menelaos¹, Skorupinska, Mariola¹, Blake, Julian^1,2, Poh, Roy³, Polke, James M³, Eggleton, Kelly³, Nanji, Tina³, Zuchner, Stephan^4,5, Cortese, Andrea¹, Houlden, Henry¹, Rossor, Alexander M¹, Laura, Matilde¹, Reilly, Mary M¹, m.reilly@ucl.ac.uk

Source: Brain: A Journal of Neurology; Sep2024, Vol. 147 Issue 9, p3144-3156, 13p

The relationship between sports sponsorships and corporate financial returns in South Africa

Authors: Blake, Julian, Fourie, Sonja, Goldman, Michael

Source: International journal of sports marketing & sponsorship. 20(1):2-25

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100119404578.0x000001&indx=1&recIds=ETOCvdc_100119404578.0x000001

Prognostic factors for response to treatment by corticosteroid injection or surgery in carpal tunnel syndrome (palms study): A prospective multicenter cohort study

Authors: Jerosch‐Herold, Christina, Shepstone, Lee, Houghton, Julie, Wilson, Edward C. F., Blake, Julian

Source: Muscle & nerve. 60(1):32-40

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100084180191.0x000001&indx=1&recIds=ETOCvdc_100084180191.0x000001

A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs)

Authors: Pareyson, Davide, Stojkovic, Tanya, Reilly, Mary M., Leonard‐Louis, Sarah, Laurà, Matilde, Blake, Julian, Parman, Yesim, Battaloglu, Esra, Tazir, Meriem, Bellatache, Mounia, Bonello‐Palot, Nathalie, Lévy, Nicolas, Sacconi, Sabrina, Guimarães‐Costa, Raquel, Attarian, Sharham, Latour, Philippe, Solé, Guilhem, Megarbane, André, Horvath, Rita, Ricci, Giulia, Choi, Byung‐Ok, Schenone, Angelo, Gemelli, Chiara, Geroldi, Alessandro, Sabatelli, Mario, Luigetti, Marco, Santoro, Lucio, Manganelli, Fiore, Quattrone, Aldo, Valentino, Paola, Murakami, Tatsufumi, Scherer, Steven S., Dankwa, Lois, Shy, Michael E., Bacon, Chelsea J., Herrmann, David N., Zambon, Alberto, Tramacere, Irene, Pisciotta, Chiara, Magri, Stefania, Previtali, Stefano C., Bolino, Alessandra

Source: Annals of neurology. 86(1):55-67

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100082955055.0x000001&indx=1&recIds=ETOCvdc_100082955055.0x000001

Intermediate conduction velocity in two cases of Charcot−Marie−Tooth disease type 1A.

Authors: Tomaselli, Pedro José¹ (AUTHOR), Blake, Julian^2,3 (AUTHOR), Polke, James M.⁴ (AUTHOR), do Nascimento, Osvaldo José Moreira⁵ (AUTHOR), Reilly, Mary M.² (AUTHOR), Marques Júnior, Wilson¹ (AUTHOR), Laurá, Matilde² (AUTHOR) m.laura@ucl.ac.uk

Source: European Journal of Neurology. May2024, Vol. 31 Issue 5, p1-4. 4p.

Subject Terms: *CHARCOT-Marie-Tooth disease, *MEDIAN nerve, *ULNAR nerve, *VELOCITY, *NEURAL conduction, *CARPAL tunnel syndrome, *HEART block

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

Authors: Rossor, Alexander M. ^*, Morrow, Jasper M., Polke, James M., Murphy, Sinead M., Houlden, Henry, Laura, Matilde, Manji, Hadi, Blake, Julian, Reilly, Mary M.

Source: In Neuromuscular Disorders January 2017 27(1):50-56

IGHMBP2 mutation associated with organ-specific autonomic dysfunction

Authors: Tomaselli, Pedro J., Horga, Alejandro, Rossor, Alexander M., Jaunmuktane, Zane, Cortese, Andrea, Blake, Julian C., Zarate-Lopez, Natalia, Houlden, Henry, Reilly, Mary M.

Source: NEUROMUSCULAR DISORDERS. 28(12):1012-1015

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100087960712.0x000001&indx=1&recIds=ETOCvdc_100087960712.0x000001

Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy

Authors: 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

Source: In The American Journal of Human Genetics 7 April 2016 98(4):597-614

Digenic FLNA and UCHL1 variants resulting in a complex phenotype.

Authors: Pernice, Helena F., O'Donnell, Luke F., Rossor, Alexander M., Laura, Matilde, Record, Christopher J., Skorupinska, Mariola, Blake, Julian, Poh, Roy, Polke, James, Reilly, Mary M.

Source: Journal of the Peripheral Nervous System; Mar2024, Vol. 29 Issue 1, p111-115, 5p

Subject Terms: X-linked genetic disorders, GENETIC mutation, NEUROPHYSIOLOGY, SOMATOSENSORY evoked potentials, GENETIC testing, ESTERASES, CARRIER proteins

Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts.

Authors: Cortese, Andrea, Currò, Riccardo, Ronco, Riccardo, Blake, Julian, Rossor, Alex M., Bugiardini, Enrico, Laurà, Matilde, Warner, Tom, Yousry, Tarek, Poh, Roy, Polke, James, Rebelo, Adriana, Dohrn, Maike F., Saporta, Mario, Houlden, Henry, Zuchner, Stephan, Reilly, Mary M.

Source: European Journal of Neurology; Jan2024, Vol. 31 Issue 1, p1-6, 6p

Subject Terms: CONGENITAL disorders, CHARCOT-Marie-Tooth disease, CATARACT, NERVE conduction studies, GENETIC testing, EYE hemorrhage

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

Authors: 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.

Source: Neurology. 88(15):1445-1453

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100043674543.0x000001&indx=1&recIds=ETOCvdc_100043674543.0x000001

High conductivity electrostatic chuck

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

Authors: Grover, Helen J., Thornton, Rachel, Lutchman, Lennel N., Blake, Julian C.

Source: Journal of clinical neurophysiology. 33(3):e8-e11

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100037243778.0x000001&indx=1&recIds=ETOCvdc_100037243778.0x000001

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome

Authors: 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.

Source: Neurology. 87(15):1607-1612

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100036345862.0x000001&indx=1&recIds=ETOCvdc_100036345862.0x000001

Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.

Authors: Pipis, Menelaos¹, Won, Seongsik², Poh, Roy¹, Efthymiou, Stephanie¹, Polke, James M¹, Skorupinska, Mariola¹, Blake, Julian^1,3, Rossor, Alexander M¹, Moran, John J², Munot, Pinki⁴, Muntoni, Francesco⁴, Laura, Matilde¹, Svaren, John², Reilly, Mary M¹, m.reilly@ucl.ac.uk

Source: Brain: A Journal of Neurology; Oct2023, Vol. 146 Issue 10, p4025-4032, 8p

Pregnancy as trigger of central nervous system dysfunction in type 1 X‐linked Charcot–Marie–Tooth disease.

Authors: Purcaru, Elena, Gunawardana, Nushan, Blake, Julian

Source: Muscle & Nerve; Oct2023, Vol. 68 Issue 4, pE37-E40, 4p

Melt purification and delivery system

Ndrg1 in development and maintenance of the myelin sheath

Authors: 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

Source: In Neurobiology of Disease June 2011 42(3):368-380