Zobrazeno 1 - 10 of 19 pro vyhledávání: '"P F, Chance"'
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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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2
Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation - a family study
Autor: W. Grisold, M. C. Hannibal, Jürgen Neesen, Helga Rehder, Franco Laccone, P. F. Chance
Publikováno v: Clinical Genetics. 74:279-283
We report a family in which two siblings presented with an apparent dysmorphic syndrome, including hypotelorism, blepharophimosis, slight ptosis, epicanthal folds, microstomia and dysmorphic ears. One sibling had a cleft palate. Initially, blepharoph
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::509c6ed66f13f66cd28a34268697250b
https://doi.org/10.1111/j.1399-0004.2008.01022.x
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3
Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2‐12: Analysis with a CMT1A‐REP repeat probe and photostimulated luminescence imaging
Autor: T, Ikegami, H, Ikeda, P F, Chance, H, Kiyosawa, M, Yamamoto, G, Sobue, A, Ohnishi, N, Tachi, K, Hayasaka
Publikováno v: Human Mutation. 9:563-566
Charcot-Marie-Tooth disease type 1A (CMT1A) is a common autosomal dominant demyelinating peripheral neuropathy. Most patients with CMT1A have been found to have a 1.5 megabase tandem DNA duplication in chromosome 17p11.2-12. Meiotic unequal crossover
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1297f01901f0065ae03aadd1af1965e8
https://doi.org/10.1002/(sici)1098-1004(1997)9:6<563::aid-humu10>3.3.co
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6
Overview of hereditary neuropathy with liability to pressure palsies
Autor: P F, Chance
Publikováno v: Annals of the New York Academy of Sciences. 883
Hereditary neuropathy with liability to recurrent pressure-sensitive palsies (HNPP; also called tomaculous neuropathy) is an autosomal dominant disorder that produces an episodic, recurrent demyelinating neuropathy. HNPP generally develops during ado
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cae831afe326b6b421d1baf7c6835730
https://pubmed.ncbi.nlm.nih.gov/10586225
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8
Molecular basis of neuromuscular diseases
Autor: P F, Chance, T, Ashizawa, E P, Hoffman, T O, Crawford
Publikováno v: Physical medicine and rehabilitation clinics of North America. 9(1)
For many neuromuscular disorders, the chromosomal location is known, the causal gene has been identified, and direct application of this knowledge may be made in a clinical setting. The benefits resulting from molecular-based methods include improved
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d489db3d44200ab352a07a14f49b2f2a
https://pubmed.ncbi.nlm.nih.gov/9894134
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9
Is there a familial carpal tunnel syndrome? An evaluation and literature review
Autor: J G, Gossett, P F, Chance
Publikováno v: Musclenerve. 21(11)
We review the reports of families proposed to have the familial carpal tunnel syndrome (FCTS). The demographic features of sporadic carpal tunnel syndrome (CTS) differ from FCTS, where an earlier onset and increased bilateral involvement is seen. We
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::49131616497208fc37e3d005d7f2d1ef
https://pubmed.ncbi.nlm.nih.gov/9771681
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10
Clinical and molecular analysis in Joubert syndrome
Autor: J E, Pellegrino, M W, Lensch, M, Muenke, P F, Chance
Publikováno v: American journal of medical genetics. 72(1)
Joubert syndrome is an autosomal recessive disorder comprising cerebellar hypoplasia, hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. The biochemical basis of the Joubert syndrome is unknown. We ascertained
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d2fe5a54e2633ed407ed05b060c96132
https://pubmed.ncbi.nlm.nih.gov/9295076
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