Search Results - "NORTH, K. N"

Calpain cleavage within dysferlin exon 40a releases a synaptotagmin-like module for membrane repair by Redpath, G M I, Woolger, N, Piper, A K, Lemckert, F A, Lek, A, Greer, P A, North, K N, Cooper, S T

“…Dysferlin and calpain are important mediators of the emergency response to repair plasma membrane injury. Our previous research revealed that membrane injury…”
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Cerebrovascular dysplasia in neurofibromatosis type 1 by Cairns, A G, North, K N

“…Objective:To assess the frequency and clinical characteristics of the increasingly recognised complication of cerebrovascular dysplasia in children with…”
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Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy by MENEZES, M. P, WADDELL, L. B, HARBORD, M, NORTH, K. N, CLARKE, N. F, EVESSON, F. J, COOPER, S, WEBSTER, R, JONES, K, MOWAT, D, KIERNAN, M. C, JOHNSTON, H. M, CORBETT, A

“…To identify the most useful clinical and histologic markers that facilitate early diagnosis in LMNA-related muscular dystrophy and to assess the usefulness of…”
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Outcome of noninvasive ventilation in children with neuromuscular disease by YOUNG, H. K, LOWE, A, FITZGERALD, D. A, SETON, C, WATERS, K. A, KENNY, E, HYNAN, L. S, IANNACCONE, S. T, NORTH, K. N, RYAN, M. M

“…To assess the effect of institution of noninvasive ventilation (NIV) on clinical outcome and quality of life (QOL) in a cohort of children with severe…”
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Diagnosis and etiology of congenital muscular dystrophy by PEAT, R. A, SMITH, J. M, COMPTON, A. G, BAKER, N. L, PACE, R. A, BURKIN, D. J, KAUFMAN, S. J, LAMANDE, S. R, NORTH, K. N

“…We aimed to determine the frequency of all known forms of congenital muscular dystrophy (CMD) in a large Australasian cohort. We screened 101 patients with CMD…”
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Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1) by GUTMANN, D. H, RASMUSSEN, S. A, WOLKENSTEIN, P, MACCOLLIN, M. M, GUHA, A, INSKIP, P. D, NORTH, K. N, POYHONEN, M, BIRCH, P. H, FRIEDMAN, J. M

“…Children with neurofibromatosis 1 (NF1) often develop low-grade gliomas, but brain tumors are infrequently encountered in adults with NF1. The authors present…”
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Mutations in ACTN4 , encoding α-actinin-4, cause familial focal segmental glomerulosclerosis by Kaplan, Joshua M, Rennke, Helmut, North, Kathryn N, A Correia, Lori, Rodríguez-Pérez, José-Carlos, Pollak, Martin R, Beggs, Alan H, Tong, Hui-Qi, Allen, Philip G, H Kim, Sung, Mathis, Beverly J

“…Focal and segmental glomerulosclerosis (FSGS) is a common, non-specific renal lesion. Although it is often secondary to other disorders, including HIV…”
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Natural history of cognitive deficits and their relationship to MRI T2-hyperintensities in NF1 by HYMAN, S. L, GILL, D. S, SHORES, E. A, STEINBERG, A, JOY, P, GIBIKOTE, S. V, NORTH, K. N

“…Cognitive impairment is the most common complication of neurofibromatosis type 1 (NF1) in childhood. Current research suggests a strong relationship between…”
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Clinical course correlates poorly with muscle pathology in nemaline myopathy by RYAN, M. M, ILKOVSKI, B, DE GIROLAMI, U, IANNACCONE, S. T, LAING, N. G, NORTH, K. N, BEGGS, A. H, STRICKLAND, C. D, SCHNELL, C, SANOUDOU, D, MIDGETT, C, HOUSTON, R, MUIRHEAD, D, DENNETT, X, SHIELD, L. K

“…To report pathologic findings in 124 Australian and North American cases of primary nemaline myopathy. Results of 164 muscle biopsies from 124 Australian and…”
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Cognitive function and academic performance in neurofibromatosis 1 : Consensus statement from the NF1 Cognitive Disorders Task Force by NORTH, K. N, RICCARDI, V, SAMANGO-SPROUSE, C, FERNER, R, MOORE, B, LEGIUS, E, RATNER, N, DENCKLA, M. B

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Uptake of health monitoring and disease self-management in Australian adults with neurofibromatosis type 1: strategies to improve care by Crawford, H.A., Barton, B., Wilson, M.J., Berman, Y., McKelvey-Martin, V.J., Morrison, P.J., North, K.N.

“…Lifelong health monitoring is recommended in neurofibromatosis type 1 (NF1) because of the progressive and unpredictable range of disabling and potentially…”
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A common nonsense mutation results in α-actinin-3 deficiency in the general population by North, Kathryn N, Yang, Nan, Wattanasirichaigoon, Duangrurdee, Mills, Michelle, Easteal, Simon, Beggs, Alan H

“…The alpha -actinins are actin-binding proteins encoded by a multigene family. In skeletal muscle, they are a major structural component of the Z-lines that…”
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Development of clinical practice guidelines for allied health and nursing assessment and management of Duchenne muscular dystrophy by Davidson, Z. E., Bray, P., Rose, K., Rodrigues, M. J., Corben, L., North, K. N., Ryan, M. M., Burns, J.

“…To provide evidence-based guidance specific to allied health and nursing practice for the assessment and management of individuals with Duchenne muscular…”
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A “human knockout” model to investigate the influence of the α-actinin-3 protein on exercise-induced mitochondrial adaptations by Papadimitriou, I. D., Eynon, N., Yan, X., Munson, F., Jacques, M., Kuang, J., Voisin, S., North, K. N., Bishop, D. J.

“…Research in α-actinin-3 knockout mice suggests a novel role for α-actinin-3 as a mediator of cell signalling. We took advantage of naturally-occurring human…”
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Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas by Johnson, K. J., Fisher, M. J., Listernick, R. L., North, K. N., Schorry, E. K., Viskochil, D., Weinstein, M., Rubin, J. B., Gutmann, D. H.

“…Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant cancer syndromes worldwide. Individuals with NF1 have a wide variety of clinical…”
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Exploring the relationship between α-actinin-3 deficiency and obesity in mice and humans by Houweling, P J, Berman, Y D, Turner, N, Quinlan, K G R, Seto, J T, Yang, N, Lek, M, Macarthur, D G, Cooney, G, North, K N

“…Obesity is a worldwide health crisis, and the identification of genetic modifiers of weight gain is crucial in understanding this complex disorder. A common…”
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Fetal akinesia: review of the genetics of the neuromuscular causes by Ravenscroft, Gianina, Sollis, Elliot, Charles, Adrian K, North, Kathryn N, Baynam, Gareth, Laing, Nigel G

“…Fetal akinesia refers to a broad spectrum of disorders in which the unifying feature is a reduction or lack of fetal movement. Fetal akinesias may be caused by…”
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Brain structure and function in neurofibromatosis type 1: current concepts and future directions by Payne, Jonathan M, Moharir, Mahendranath D, Webster, Richard, North, Kathryn N

“…Neurofibromatosis type 1 (NF1) is a common neurogenetic condition associated with cognitive dysfunction and learning disability. Over the past decade,…”
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α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization by Garton, F C, Seto, J T, Quinlan, K G R, Yang, N, Houweling, P J, North, K N

“…Homozygosity for a common null polymorphism (R577X) in the ACTN3 gene results in the absence of the fast fibre-specific protein, α-actinin-3 in ∼16% of humans…”
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Nemaline myopathy : current concepts by NORTH, K. N, LAING, N. G, WALLGREN-PETTERSSON, C

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