Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Mark Busby"'
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 93:e2.232
GNE myopathy is an adult-onset autosomal recessive distal myopathy uniquely characterised by quadri- ceps sparing. It was previously described in Japanese patients and a large ethnic cluster was identified in Jews originating from Iran. Since then, i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1fc94a98d9071a68dee45368b8e8959f
https://doi.org/10.1136/jnnp-2022-abn2.81
https://doi.org/10.1136/jnnp-2022-abn2.81
Autor:
Mark Busby, Rita Barresi, L. Phillips, Tiziana Mongini, Hacer Durmus, Jonathan Baets, Fiona Norwood, Judith N Hudson, James Miller, Peter De Jonghe, Shahriar Nafissi, Katherine Johnson, Ana Töpf, Monkol Lek, Stojan Peric, Daniel G. MacArthur, Marta Bertoli, Willem De Ridder, Shirin Jamal-Omidi, Vidosava Rakocevic Stojanovic, Volker Straub, Tine Deconinck, Anna Łusakowska
Publikováno v:
Journal of neurology, neurosurgery and psychiatry
Introduction TRIM32-related myopathies represent a phenotypic spectrum of a rare autosomal recessive muscle disorder. The disease is described as a mild and progressive myopathy without characteristic clinical features. Originally classified as limb-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28cfdfc1be3263ac26ee02f4f736fa0b
http://hdl.handle.net/2318/1786348
http://hdl.handle.net/2318/1786348
Autor:
Katherine, Johnson, Willem, De Ridder, Ana, Töpf, Marta, Bertoli, Lauren, Phillips, Peter, De Jonghe, Jonathan, Baets, Tine, Deconinck, Vidosava, Rakocevic Stojanovic, Stojan, Perić, Hacer, Durmus, Shirin, Jamal-Omidi, Shahriar, Nafissi, Tiziana, Mongini, Anna, Łusakowska, Mark, Busby, James, Miller, Fiona, Norwood, Judith, Hudson, Rita, Barresi, Monkol, Lek, Daniel G, MacArthur, Volker, Straub
Publikováno v:
Journal of Neurology, Neurosurgery, and Psychiatry
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5cea806501789d91ba89610e58505907
https://pubmed.ncbi.nlm.nih.gov/29921608
https://pubmed.ncbi.nlm.nih.gov/29921608
Autor:
Mark Busby
Publikováno v:
Pacific Historical Review. 87:728-729
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::055192768f6920c525f6c43f4ad71755
https://doi.org/10.1525/phr.2018.87.4.728
https://doi.org/10.1525/phr.2018.87.4.728
Autor:
Patrick F. Chinnery, John B Winer, Kate Bushby, Hanns Lochmüller, Helen Griffin, Aravind V Ramesh, Gerald Pfeffer, Anna Sarkozy, Mark Busby, Maria Elena Farrugia, Volker Straub, Ian J. Wilson, Rita Barresi, J. Hudson, Steven A. Hardy, Hedley C. A. Emsley, Hannah R Elliott, Ashok Raman, Sujit S. Vaidya, Aleksandar Radunovic, Rita Horvath, Chris Everett, Alec Ming
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 85:331-338
Objective Titin gene (TTN) mutations have been described in eight families with hereditary myopathy with early respiratory failure (HMERF). Some of the original patients had features resembling myofibrillar myopathy (MFM), arguing that TTN mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37d2d0ec81da3874dc1712c05f2cd8fb
https://doi.org/10.1136/jnnp-2012-304728
https://doi.org/10.1136/jnnp-2012-304728
Publikováno v:
Brain Disorders & Therapy.
Introduction: CANOMAD (an acronym for its full manifestation of chronic ataxic neuropathy, ophthalmoplegia, IgM paraprotein, cold agglutinins and disialosyl antibodies) is an uncommon paraproteinaemic neuropathy. Methods and Results: We present the c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f81e66e322a5bc02eceb526b93b08fbf
https://doi.org/10.4172/2168-975x.1000166
https://doi.org/10.4172/2168-975x.1000166
Autor:
Mark Busby, Michael Donaghy
Publikováno v:
Journal of Neurology. 250:714-724
The Chronic Dysimmune neuropathies (CDN) are a clinically heterogeneous group of polyneuropathies united by their presumed immune mediated aetiology. At present such neuropathies are classified as Chronic Inflammatory Demyelinating Polyneuropathy (CI
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::03efd27f14d0751c5924562ec5656242
https://doi.org/10.1007/s00415-003-1068-2
https://doi.org/10.1007/s00415-003-1068-2
Publikováno v:
Clinical neurology and neurosurgery. 128
Brown–Vialetto–Van Laere (BVVL) is a rare neurodegenerative isorder caused by mutations in the human intestinal riboflavin ransporter genes, leading to riboflavin deficiency. It is characerised by bulbar palsy, respiratory insufficiency and senso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a3cf3e47fd4800e23bb567309533396
https://pubmed.ncbi.nlm.nih.gov/25462087
https://pubmed.ncbi.nlm.nih.gov/25462087
Autor:
Mark Busby
The Trans-Cedar lynching is an infamous tale buried deep in the subconscious of rural Texas history—although it made front-page headlines in the Dallas Morning News and even in national newspapers from May through November of 1899. This horrifying