Výsledky vyhledávání - "Phillip F. Chance"

Akademický článek

Senataxin, the yeast Sen1p orthologue: Characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease

Autor: Ying-Zhang Chen, Sayed H. Hashemi, Susan K. Anderson, Yongzhao Huang, Maria-Ceu Moreira, David R. Lynch, Ian A. Glass, Phillip F. Chance, Craig L. Bennett

Publikováno v: Neurobiology of Disease, Vol 23, Iss 1, Pp 97-108 (2006)

A severe recessive cerebellar ataxia, Ataxia-Oculomotor Apraxia 2 (AOA2) and a juvenile onset form of dominant amyotrophic lateral sclerosis (ALS4) result from mutations of the Senataxin (SETX) gene. To begin characterization this disease protein, we

Externí odkaz: https://doaj.org/article/9f5332fe512346c7b1ba5bd6a05a46a1

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Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

Publikováno v: Journal of Medical Genetics
JOURNAL OF MEDICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

Bachmann-Gagescu, Ruxandra/0000-0002-3571-5271; O'Roak, Brian/0000-0002-4141-0095; Isabella, Christine/0000-0003-0786-7240; Blue, Elizabeth/0000-0002-0633-0305; , Beyhan/0000-0002-9620-5021 WOS: 000358443800002 PubMed: 26092869 Background Joubert syn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10525a2bb15fc91d75c98785572f9870

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Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy

Autor: Megan L. Landsverk, Dana M. Knutzen, Richard K. Olney, Elizabeth K. Ruzzo, Patrick F. Chinnery, Karen Barnett, Angela M. B. Collie, Gareth Parry, Sabrina W. Yum, Robert H. Brown, Jonathan Adkins, Heather C Mefford, Karen Buysse, Phillip F. Chance, Evan E. Eichler, David Simpson, Mark C. Hannibal

Publikováno v: Journal of Medical Genetics, 47, 601-7
Journal of Medical Genetics, 47, 9, pp. 601-7

Item does not contain fulltext BACKGROUND: Genomic copy number variants have been shown to be responsible for multiple genetic diseases. Recently, a duplication in septin 9 (SEPT9) was shown to be causal for hereditary neuralgic amyotrophy (HNA), an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27521b5155fa6a8ed162c03a314370b3
https://doi.org/10.1136/jmg.2009.072348

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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

Publikováno v: JOURNAL OF MEDICAL GENETICS, 47(1), 8-21. BMJ PUBLISHING GROUP

Dobyns, William/0000-0002-7681-2844; VERLOES, Alain/0000-0003-4819-0264 WOS: 000273581000002 PubMed: 19574260 Objective To identify genetic causes of COACH syndrome Background COACH syndrome is a rare autosomal recessive disorder characterised by Cer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4c69965fd9fdf0208dc865457477b0a
https://research.rug.nl/en/publications/7d497c85-c766-447b-aaee-e270a2330ab5

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SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy

Autor: S. Lovitt, Thomas D. Bird, Karen Barnett, L. R. Miller, Stanley H. Appel, Alexis Brice, Elizabeth K. Ruzzo, Eric LeGuern, Eva Andermann, B. B. Worrall, Phillip F. Chance, H. M. Bedford, Megan L. Landsverk, B. Betz, Jillian G. Buchan, Mark C. Hannibal, Dana M. Knutzen

Publikováno v: Neurology. 72:1755-1759

Background: Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder that manifests as recurrent, episodic, painful brachial neuropathies. A gene for HNA maps to chromosome 17q25.3 where mutations in SEPT9 , encoding the septin-9 prote

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01768cce8b88bcb66faf0bdca5b4bf6b
https://doi.org/10.1212/wnl.0b013e3181a609e3

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Late-onset hereditary axonal neuropathies

Autor: Phillip F. Chance, W. Seltzer, Hillary Lipe, Kiri L. Brickell, Michael D. Weiss, Craig L. Bennett, Gregory T. Carter, K. Isaacs, Victoria H. Lawson, Thomas D. Bird, Kevin M. Flanigan

Publikováno v: Neurology. 71:14-20

Background: Hereditary motor-sensory neuropathy or the Charcot-Marie-Tooth syndrome is known to represent considerable genetic heterogeneity. Onset is usually in childhood, adolescence, or young adulthood. The objective of this study was to define la

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f02cfae5d70789da271b1b6f233ee60b
https://doi.org/10.1212/01.wnl.0000304048.94023.73

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In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome

Autor: Puneet Opal, S. D. Batish, Ying Zhang Chen, N. Nagan, Craig L. Bennett, Alexander G. Bassuk, Phillip F. Chance

Publikováno v: Neurogenetics. 8:45-49

Senataxin mutations are the molecular basis of two distinct syndromes: (1) ataxia oculomotor apraxia type 2 (AOA2) and (2) juvenile amyotrophic lateral sclerosis 4 (ALS4). The authors describe clinical and molecular genetic studies of mother and daug

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::767898038a71c8f11a4b2695228d1475
https://doi.org/10.1007/s10048-006-0067-8

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Senataxin, the yeast Sen1p orthologue: Characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease

Autor: Yongzhao Huang, Craig L. Bennett, Ian A. Glass, Sayed H. Hashemi, Phillip F. Chance, David A. Lynch, Ying Zhang Chen, Maria-Ceu Moreira, Susan K. Anderson

Publikováno v: Neurobiology of Disease, Vol 23, Iss 1, Pp 97-108 (2006)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::430f752edcba5e298591d3e6c44b051b
https://doi.org/10.1016/j.nbd.2006.02.007

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Inherited Neuropathies: From Gene to Disease

Autor: Marcel P. Keller, Phillip F. Chance

Publikováno v: Brain Pathol

Inherited disorders of peripheral nerves represent a common group of neurologic diseases. Charcot-Marie-Tooth neuropathy type 1 (CMT1) is a genetically heterogeneous group of chronic demyelinating polyneuropathies with loci mapping to chromosome 17 (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25092fa91aff36f1486711ad321557c5
https://doi.org/10.1111/j.1750-3639.1999.tb00230.x

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Inherited focal, episodic neuropathies

Autor: Phillip F. Chance

Publikováno v: NeuroMolecular Medicine. 8:159-173

Hereditary neuropathy with liability to pressure palsies (HNPP; also called tomaculous neuropathy) is an autosomal-dominant disorder that produces a painless episodic, recurrent, focal demyelinating neuropathy. HNPP generally develops during adolesce

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::32c0dee86dedc11875bf90f665dc5f69
https://doi.org/10.1385/nmm:8:1-2:159

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