Zobrazeno 1 - 10
of 87
pro vyhledávání: '"Julian Blake"'
Autor:
Rosalind H.M. King, David Chandler, Sash Lopaticki, Dexing Huang, Julian Blake, John R. Muddle, Trevor Kilpatrick, Michelle Nourallah, Toshiyuki Miyata, Tomohiko Okuda, Kim W. Carter, Michael Hunter, Dora Angelicheva, Grant Morahan, Luba Kalaydjieva
Publikováno v:
Neurobiology of Disease, Vol 42, Iss 3, Pp 368-380 (2011)
CMT4D disease is a severe autosomal recessive demyelinating neuropathy with extensive axonal loss leading to early disability, caused by mutations in the N-myc downstream regulated gene 1 (NDRG1). NDRG1 is expressed at particularly high levels in the
Externí odkaz:
https://doaj.org/article/025929e759604c54813529023ccc2f1a
Autor:
Antonia S Carroll, Carolynne M Doherty, Julian Blake, Stephen J Hunt, Chandrashekar Hoskote, Feargal McNicholl, Rahul Phadke, Oonagh Sheehy, Fion D Bremner, Shirley D'Sa, Christopher McNamara, Mary M Reilly
Publikováno v:
Practical Neurology. 22:396-406
The histiocytoses are a group of rare disorders characterised by the accumulation of neoplastic or non-neoplastic activated histiocytes in various tissues. Phenotypes vary widely from cutaneous lesions or lymphadenopathy that regress spontaneously to
Autor:
Luke Francis O'Donnell, Andrea Cortese, Alexander M Rossor, Matilde Laura, Julian Blake, Mariola Skorupinska, Michael P Lunn, John S Thornton, Riccardo Currò, Jasper M Morrow, Mary M Reilly
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 94:88-90
Autor:
Christopher J Record, Menelaos Pipis, Julian Blake, Riccardo Curro, Michael P Lunn, Alexander M Rossor, Matilde Laura, Andrea Cortese, Mary M Reilly
Publikováno v:
Journal of the peripheral nervous system : JPNS. 27(2)
Autor:
Alexander M. Rossor, Matt Parton, David S. Lynch, Michael G. Hanna, Enrico Bugiardini, Qiang Gang, Andrea Cortese, Jasper M. Morrow, Lucy Feng, Ros Quinlivan, Janice L. Holton, Aisling Carr, Alaa Khan, Alan Pittman, Mary M. Reilly, Rahul Phadke, Chris Turner, Julian Blake, Henry Houlden, Emma Matthews
Publikováno v:
Neuromuscular Disorders. 29:747-757
Diagnosis of inherited myopathies can be a challenging and lengthy process due to broad genetic and phenotypic heterogeneity. In this study we applied focused exome sequencing to investigate a cohort of 100 complex adult myopathy cases who remained u
Autor:
M Skorupinska, Guilhem Solé, Philippe Latour, Mary M. Reilly, Andrea Cortese, Tanya Stojkovic, Sachit Shah, Ki Wha Chung, Raul Juntas-Morales, Jana Vandrovcova, Byung-Ok Choi, Menelaos Pipis, Roy Poh, James M. Polke, Philippe Petiot, Matilde Laura, Alexander M. Rossor, Yves Fromes, Julian Blake, Arnaud Jacquier
Publikováno v:
Journal of Neurology, Neurosurgery and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, 2021, jnnp-2021-327186. ⟨10.1136/jnnp-2021-327186⟩
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2021, jnnp-2021-327186. ⟨10.1136/jnnp-2021-327186⟩
Journal of Neurology, Neurosurgery and Psychiatry, 2021, jnnp-2021-327186. ⟨10.1136/jnnp-2021-327186⟩
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2021, jnnp-2021-327186. ⟨10.1136/jnnp-2021-327186⟩
ObjectiveNeurofilaments are the major scaffolding proteins for the neuronal cytoskeleton, and variants in NEFH have recently been described to cause axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC).MethodsIn this large observational study, we pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d319da7afd60ea990d61bdd8ccdc0dee
https://hal.sorbonne-universite.fr/hal-03353031/file/jnnp-2021-327186.full.pdf
https://hal.sorbonne-universite.fr/hal-03353031/file/jnnp-2021-327186.full.pdf
Autor:
Menelaos, Pipis, Andrea, Cortese, James M, Polke, Roy, Poh, Jana, Vandrovcova, Matilde, Laura, Mariola, Skorupinska, Arnaud, Jacquier, Raul, Juntas-Morales, Philippe, Latour, Philippe, Petiot, Guilhem, Sole, Yves, Fromes, Sachit, Shah, Julian, Blake, Byung-Ok, Choi, Ki Wha, Chung, Tanya, Stojkovic, Alexander M, Rossor, Mary M, Reilly
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry. 93(1)
Neurofilaments are the major scaffolding proteins for the neuronal cytoskeleton, and variants inIn this large observational study, we present phenotype-genotype correlations on 30 affected and 3 asymptomatic mutation carriers from eight families.The
Autor:
Julian Blake, Janet A. Gilbertson, D Choi, S Shah, R.S. Phadke, Aisling Carr, Ashutosh D. Wechalekar, Philip N. Hawkins, Carol J. Whelan, Mary M. Reilly, Julian D. Gillmore
Publikováno v:
Journal of Neuromuscular Diseases. 6:267-270
Here we describe a patient with genetically confirmed ATTR, a family history of the disease and histological confirmation following carpal tunnel release surgery but no other manifestations. The first major neurological or systemic manifestation was
Publikováno v:
International Journal of Sports Marketing and Sponsorship. 20:2-25
Purpose Sponsorship is a major contributor to income in the South African sports arena, and is a critical component allowing sports unions to remain financially viable and sustainable. Sports sponsoring companies, however, have long questioned the fi
Autor:
Carolynne Doherty, Julian Blake, Adnan Manzur, Emma Wakeling, Sachit Shah, Francesco Muntoni, Mary Reilly
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 93:A140.3-A141
BackgroundWe describe a proband and her son who have proximal limb and facial weakness and marked hand involvement. A congenital myopathy panel demonstrated two RYR1 variants and the p.Ile289Phe novel variant in ACTA1.Cases: The proband had initially