Search Results - "KENNERSON, M. L"

A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4) by Perez-Siles, G, Ellis, M, Ashe, A, Grosz, B, Vucic, S, Kiernan, M C, Morris, K A, Reddel, S W, Kennerson, M L

“…Spinal Muscular Atrophy (SMA) is a heterogeneous group of neuromuscular diseases characterized by degeneration of anterior horn cells of the spinal cord,…”
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Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous : Families with and without MFN2 mutations by ZHU, D, KENNERSON, M. L, WALIZADA, G, ZÜCHNER, S, VANCE, J. M, NICHOLSON, G. A

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Quantitative muscle ultrasound as a biomarker in Charcot-Marie-Tooth neuropathy by Shahrizaila, N, Noto, Y, Simon, NG, Huynh, W, Shibuya, K, Matamala, JM, Dharmadasa, T, Devenney, E, Kennerson, ML, Nicholson, GA, Kiernan, MC

“…Highlights • Charcot-Marie-Tooth (CMT) patients have increased muscle echogenicity of hand and lower leg muscles. • In CMT, the volume and thickness of the…”
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Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies by Tey, S., Ahmad-Annuar, A., Drew, A.P., Shahrizaila, N., Nicholson, G.A., Kennerson, M.L.

“…The cytoplasmic dynein–dynactin genes are attractive candidates for neurodegenerative disorders given their functional role in retrograde transport along…”
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A Locus for Hereditary Sensory Neuropathy with Cough and Gastroesophageal Reflux on Chromosome 3p22-p24 by Kok, C., Kennerson, M.L., Spring, P.J., Ing, A.J., Pollard, J.D., Nicholson, G.A.

“…Hereditary sensory neuropathy type I (HSN I) is a group of dominantly inherited degenerative disorders of peripheral nerve in which sensory features are more…”
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Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease by HUTTNER, I. G, KENNERSON, M. L, REDDEL, S. W, RADOVANOVIC, D, NICHOLSON, G. A

“…To characterize a large family with X-linked Charcot-Marie-Tooth (CMT) neuropathy without mutations in the gap junction protein B1 (GJB1) gene, which has an…”
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A new autosomal dominant pure cerebellar ataxia by STOREY, E, GARDNER, R. J. M, KNIGHT, M. A, KENNERSON, M. L, TUCK, R. R, FORREST, S. M, NICHOLSON, G. A

“…A kindred is described with a dominantly inherited "pure" cerebellar ataxia in which the currently known spinocerebellar ataxias have been excluded. In the…”
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Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation by Perez-Siles, G., Cutrupi, A., Ellis, M., Screnci, R., Mao, D., Uesugi, M., Yiu, Eppie M., Ryan, Monique M., Choi, B. O., Nicholson, G., Kennerson, M. L.

“…Charcot-Marie-Tooth (CMT) is a group of inherited diseases clinically and genetically heterogenous, characterised by length dependent degeneration of axons of…”
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Dominant Intermediate Charcot-Marie-Tooth Neuropathy Maps to Chromosome 19p12-p13.2 by Kennerson, M.L., Zhu, D., Gardner, R.J.M., Storey, E., Merory, J., Robertson, S.P., Nicholson, G.A.

“…The hereditary disorders of peripheral nerve form one of the most common groups of human genetic diseases, collectively called Charcot-Marie-Tooth (CMT)…”
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A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene by Kennerson, Marina L, Yiu, Eppie M, Chuang, David T, Kidambi, Aditi, Tso, Shih-Chia, Ly, Carolyn, Chaudhry, Rabia, Drew, Alexander P, Rance, Gary, Delatycki, Martin B, Züchner, Stephan, Ryan, Monique M, Nicholson, Garth A

“…Hereditary motor and sensory disorders of the peripheral nerve form one of the most common groups of human genetic diseases collectively called…”
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A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies by Nicholson, Garth A, Valentijn, Linda J, Cherryson, Annia K, Kennerson, Marina L, Bragg, Tara L, DeKroon, Robert M, Ross, David A, Pollard, John D, Mcleod, James G, Bolhuis, Pieter A, Baas, Frank

“…Hereditary neuropathy with liability to pressure palsies (HNPP) has been a associated with a deletion of 1.5 megabases of chromosome 17p. One of four biopsy…”
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The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3 by Blair, Ian P, Gordon, Melissa J, Bananis, Tessy, Kennerson, Marina L, Nicholson, Garth A, Nash, Janet, Dawkins, Jennifer L, Cherryson, Annia K

“…Hereditary sensory neuropathy type I (HSN-I, also known as hereditary sensory and autonomic neuropathy type I (HSAN-I), or hereditary sensory radicular…”
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Detection of Charcot-Marie-Tooth type 1A duplication by the polymerase chain reaction by Blair, I P, Kennerson, M L, Nicholson, G A

“…Charcot-Marie-Tooth disease type 1A (CMT1A) is a hereditary peripheral neuropathy with a genetic locus on chromosome 17p11.2. The majority of patients carry a…”
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Genomic structure and physical mapping of C17orf1 : A gene associated with the proximal element of the CMT1A-REP binary repeat by KENNERSON, M. L, NASSIF, N. T, NICHOLSON, G. A

“…C17orf1, a gene expressed in skeletal muscle and heart, was initially isolated from a fetal brain cDNA library and localized centromeric to and partially…”
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The Charcot-Marie-tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene by KENNERSON, M. L, NASSIF, N. T, DAWKINS, J. L, DEKROON, R. M, YANG, J. G, NICHOLSON, G. A

“…Misalignment between the two elements of the CMT1A-REP binary repeat on chromosome 17p11.2-p12 causes two inherited peripheral neuropathies,…”
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A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies using multiplexed real-time PCR by Lorentzos, P, Kaiser, T, Kennerson, M L, Nicholson, G A

“…Alterations in gene copy number have been shown to cause disease in humans. Two of the most common inherited peripheral neuropathies, Charcot-Marie-Tooth 1A…”
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Single test for two hereditary neuropathies, CMT1A and HNPP by Kennerson, M L, Gordon, M J, Blair, I P, Nicholson, G A

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Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20 by Berkovic, S F, Kennerson, M L, Howell, R A, Scheffer, I E, Hwang, P A, Nicholson, G A

“…To determine whether the syndrome of benign familial neonatal convulsions in a large family was linked to markers on chromosome 20q and to study the seizure…”
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Charcot-Marie-Tooth neuropathy type 1A mutation: apparent crossovers with D17S122 are due to a duplication by Nicholson, G A, Kennerson, M L, Keats, B J, Mesterovic, N, Churcher, W, Barker, D, Ross, D A

“…A locus for the slow conducting form of Charcot-Marie-Tooth neuropathy (CMT1A) was localised to the proximal short arm of chromosome 17, in band p11.2, distal…”
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DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4) by Chen, Ying-Zhang, Bennett, Craig L., Huynh, Huy M., Blair, Ian P., Puls, Imke, Irobi, Joy, Dierick, Ines, Abel, Annette, Kennerson, Marina L., Rabin, Bruce A., Nicholson, Garth A., Auer-Grumbach, Michaela, Wagner, Klaus, De Jonghe, Peter, Griffin, John W., Fischbeck, Kenneth H., Timmerman, Vincent, Cornblath, David R., Chance, Phillip F.

“…Juvenile amyotrophic lateral sclerosis (ALS4) is a rare autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS) characterized by distal muscle…”
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