Search Results - "Hand, Collette K."

Familial amyotrophic lateral sclerosis by Hand, Collette K., Rouleau, Guy A.

“…The increasing complexity of the pathways implicated in the pathogenesis of familial amyotrophic lateral sclerosis (ALS) has stimulated intensive research in…”
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Implementation of an ISO15189 accredited next-generation sequencing service with the fully automated Ion Torrent Genexus: the experience of a clinical diagnostic laboratory by Werner, Réiltín, Connolly, Amy, Bennett, Michael, Hand, Collette K, Burke, Louise

“…Next-generation sequencing (NGS) is integral to the delivery of personalised medicine for targeted cancer therapy. Average turnaround times (TAT) from…”
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Low incidence of BRAF and NRAS mutations in a population with a high incidence of melanoma by Neville, Grace, Marzario, Barbara, Shilling, David, Hand, Collette K, Heffron, Cynthia

“…Reported rates of BRAF mutation in Irish cutaneous melanoma cohorts are lower than the reported international data. We aimed to assess the mutational status of…”
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Chorea-Acanthocytosis and the Huntington Disease Allele in an Irish Family by Murphy, Olwen C, O'Toole, Orna, Hand, Collette K, Ryan, Aisling M

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A Novel ATP1A2 Gene Mutation in an Irish Familial Hemiplegic Migraine Kindred by Fernandez, Desiree M., Hand, Collette K., Sweeney, Brian J., Parfrey, Nollaig A.

“…Objective.— We studied a large Irish Caucasian pedigree with familial hemiplegic migraine (FHM) with the aim of finding the causative gene mutation…”
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Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family by Hand, Collette K., Mayeux-Portas, Veronique, Khoris, Jawad, Briolotti, Valerie, Clavelou, Pierre, Camu, William, Rouleau, Guy A.

“…We describe a French amyotrophic lateral sclerosis (ALS) family with two distinct mutations in the Cu/Zn superoxide dismutase (SOD1) gene. The D90A mutation…”
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Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree by Hand, Collette K, McGuire, Mairide, Parfrey, Nollaig A, Murphy, Conor C

“…Congenital hereditary endothelial dystrophy (CHED) is a genetic disorder of corneal endothelial cells resulting in corneal clouding and visual impairment…”
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A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 by Showguchi-Miyata, Junko, Hosler, Betsy A, Devon, Rebecca S, Skaug, Jennifer, Scherer, Stephen W, Okada, Yoshinori, Hayden, Michael R, Kwiatkowski, Thomas, Hadano, Shinji, Otomo, Asako, Nasir, Jamal, Singaraja, Roshni, Rouleau, Guy A, Brown, Robert H, Ikeda, Joh-E, Sagie, Tally, Yanagisawa, Yoshiko, Miyamoto, Natsuki, Osuga, Hitoshi, Figlewicz, Denise A, Hand, Collette K

“…Amyotrophic lateral sclerosis 2 (ALS2) is an autosomal recessive form of juvenile ALS and has been mapped to human chromosome 2q33. Here we report the…”
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Andersen–Tawil Syndrome With Early Fixed Myopathy by Lefter, Stela, Hardiman, Orla, Costigan, Donal, Lynch, Bryan, McConville, John, Hand, Collette K, Ryan, Aisling M

“…ABSTRACTAndersen–Tawil syndrome (ATS) is a rare autosomal dominant potassium channelopathy characterized by a triad of periodic paralysis, ventricular…”
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Chorea–Acanthocytosis and the Huntington Disease Allele in an Irish Family by Murphy, Olwen C., O’Toole, Orna, Hand, Collette K., Ryan, Aisling M.

“…Genetic analysis of the VPS13A (ChAc) gene (NM_033305.2) demonstrated that the three affected siblings are compound heterozygotes, with one copy of the…”
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A Novel Locus for Familial Amyotrophic Lateral Sclerosis, on Chromosome 18q by Hand, Collette K., Khoris, Jawad, Salachas, François, Gros-Louis, François, Lopes, Ana Amélia Simões, Mayeux-Portas, Veronique, Brown, Robert H., Meininger, Vincent, Camu, William, Rouleau, Guy A.

“…Amyotrophic lateral sclerosis (ALS) is an adult-onset degenerative disorder characterized by the death of motor neurons in the cortex, brain stem, and spinal…”
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A novel locus for restless legs syndrome maps to chromosome 19p in an Irish pedigree by Skehan, Evelyn B., Abdulrahim, Manal M. A., Parfrey, Nollaig A., Hand, Collette K.

“…Restless legs syndrome (RLS) is a common, sleep-related movement disorder. The symptoms follow a circadian pattern, worsening in the evening or night, leading…”
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An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred by Gros-Louis, François, Meijer, Inge A., Hand, Collette K., Dubé, Marie-Pierre, MacGregor, Daune L., Seni, Marie-Hélène, Devon, Rebecca S., Hayden, Michael R., Andermann, Frederick, Andermann, Eva, Rouleau, Guy A.

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Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families by Koenekoop, Robert K, Loyer, Magali, Hand, Collette K, Al Mahdi, Huda, Dembinska, Olga, Beneish, Raquel, Racine, Julie, Rouleau, Guy A

“…To characterize the molecular defects in two x-linked retinitis pigmentosa (RP) families. We hypothesized that different RPGR mutations result in distinct RP…”
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Phenotypic Variation in a Caucasian Kindred with Chorea‐Acanthocytosis by Merwick, Áine, Mok, Tzehow, McNamara, Brian, Parfrey, Nollaig A., Moore, Helena, Sweeney, Brian J., Hand, Collette K., Ryan, Aisling M.

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Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation by Dupré, Nicolas, Verlaan, Dominique J, Hand, Collette K, Laurent, Sandra B, Turecki, Gustavo, Davenport, W Jeptha, Acciarri, Nicola, Dichgans, Johannes, Ohkuma, Akio, Siegel, Adrian M, Rouleau, Guy A

“…Cerebral cavernous malformation (CCM) is a form of intracranial vascular disease that may arise sporadically or be dominantly inherited. Linkage studies have…”
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Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct by Callaghan, Máire, Hand, Collette K, Kennedy, Susan M, FitzSimon, J Susan, Collum, Louis M T, Parfrey, Nollaig A

“…BACKGROUND Congenital hereditary endothelial dystrophy (CHED) is a corneal dystrophy characterised by diffuse bilateral corneal clouding resulting in impaired…”
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A founder mutation in French-Canadian families with X-linked hereditary neuropathy by Dupré, N, Cossette, L, Hand, C K, Bouchard, J P, Rouleau, G A, Puymirat, J

“…The aim of the present study was to identify the mutations in the connexin 32 gene in French-Canadian families with X-linked Charcot-Marie-Tooth disease…”
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Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis by Hand, Collette K, Devon, Rebecca S, Gros-Louis, Francois, Rochefort, Daniel, Khoris, Jawad, Meininger, Vincent, Bouchard, Jean-Pierre, Camu, William, Hayden, Michael R, Rouleau, Guy A

“…Mutations in the ALS2 gene cause juvenile-onset autosomal recessive amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegia. To assess the role…”
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Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia by Meijer, Inge A, Hand, Collette K, Cossette, P, Figlewicz, Denise A, Rouleau, Guy A

“…Hereditary spastic paraplegia (HSP) is a neurodegenerative disease characterized by progressive spasticity and weakness of the lower limbs. The most common…”
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