Zobrazeno 1 - 10
of 13
pro vyhledávání: '"T O, Crawford"'
Autor:
T O, Crawford
Publikováno v:
Seminars in Pediatric Neurology. 5:287-294
The cloning of ATM in 1995, the gene responsible for ataxia-telangiectasia, opened a dimension of biological research that is as complex and intriguing to cell biologists as this classic disorder has been to clinicians for four decades. The phenotype
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96f0c41445286e2adddf8ab6481458d4
https://doi.org/10.1016/s1071-9091(98)80007-7
https://doi.org/10.1016/s1071-9091(98)80007-7
Ataxia-telangiectasia, an autosomal recessive disorder caused by defect of the ataxia-telangiectasia mutated gene, is characterized by progressive neurologic impairment with cerebellar atrophy, ocular and cutaneous telangiectasia, immunodeficiency, h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7bf2bcfbced0a8c928d641c451d983b
https://europepmc.org/articles/PMC4106125/
https://europepmc.org/articles/PMC4106125/
Publikováno v:
Neuropediatrics. 37(4)
Object: Ataxia-telangiectasia (A-T) is a recessively inherited neurodegenerative disorder with prominent progressive ataxia and cerebellar degeneration, as well as manifest abnormalities of tone, posture, and movement suggesting extrapyramidal dysfun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b879dc562cb75ce32587ddb8b0993523
https://pubmed.ncbi.nlm.nih.gov/17177151
https://pubmed.ncbi.nlm.nih.gov/17177151
Autor:
V, Chaudhry, T O, Crawford
Publikováno v:
Musclenerve. 22(12)
The principal electrodiagnostic feature of infant botulism, an incremental response on high rates of repetitive nerve stimulation, has variable sensitivity and may not always be useful as a diagnostic test given the vagaries of test timing and severi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::38f40e30fd9a20496fb579b2a350a11f
https://pubmed.ncbi.nlm.nih.gov/10567083
https://pubmed.ncbi.nlm.nih.gov/10567083
Publikováno v:
Annals of neurology. 46(3)
Although abnormal eye movements are a prominent feature of ataxia telangiectasia, the characteristics of the oculomotor dysfunction in the disease have been reported only in small groups of patients. We have examined eye movements clinically in 56 pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ca759bbac8642ad8f4f5f42c9e7887ee
https://pubmed.ncbi.nlm.nih.gov/10482258
https://pubmed.ncbi.nlm.nih.gov/10482258
Autor:
J G, Gleeson, S R, Minnerath, J W, Fox, K M, Allen, R F, Luo, S E, Hong, M J, Berg, R, Kuzniecky, P J, Reitnauer, R, Borgatti, A P, Mira, R, Guerrini, G L, Holmes, C M, Rooney, S, Berkovic, I, Scheffer, E C, Cooper, S, Ricci, R, Cusmai, T O, Crawford, R, Leroy, E, Andermann, J W, Wheless, W B, Dobyns, C A, Walsh
Publikováno v:
Annals of neurology. 45(2)
Mutations in the X-linked gene doublecortin, which encodes a protein with no dear structural homologues, are found in pedigrees in which affected females show "double cortex" syndrome (DC; also known as subcortical band heterotopia or laminar heterot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dc3dca58538810b1c021e42d6fc50730
https://pubmed.ncbi.nlm.nih.gov/9989613
https://pubmed.ncbi.nlm.nih.gov/9989613
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
https://pubmed.ncbi.nlm.nih.gov/9894134
Autor:
K M, Flanigan, T O, Crawford, J W, Griffin, H H, Goebel, A, Kohlschütter, J, Ranells, P R, Camfield, L J, Ptácek
Publikováno v:
Annals of neurology. 43(1)
Giant axonal neuropathy (GAN) is a degenerative disorder of the peripheral nerves that is inherited as an autosomal recessive trait, presenting in early childhood and progressing to death, usually by late adolescence. Diagnosis is made by peripheral
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::849b1c50c2d41f8a1176e5ba831a20ae
https://pubmed.ncbi.nlm.nih.gov/9450783
https://pubmed.ncbi.nlm.nih.gov/9450783
Publikováno v:
The Journal of Bone & Joint Surgery. 66:450-453
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::57b77e73b448816d95157890c3040152
https://doi.org/10.2106/00004623-198466030-00020
https://doi.org/10.2106/00004623-198466030-00020
Publikováno v:
Neurology. 37(2)
We report our experience with 300 consecutive parenteral doses of lorazepam (LOR) for status epilepticus (SE) or serial seizures in 77 children and young adults. The median dose for SE in children less than 12 years old was 0.10 mg/kg. LOR stopped th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c2efc0a8b49d58b577b904a0a31d5ff
https://pubmed.ncbi.nlm.nih.gov/3808299
https://pubmed.ncbi.nlm.nih.gov/3808299