Zobrazeno 1 - 10
of 576
pro vyhledávání: '"D. Gardner-Medwin"'
Publikováno v:
Developmental Medicine & Child Neurology. 32:729-732
SUMMARY Periventricular calcification was found in an eight-year-old boy with seizures. The diagnosis of tuberous sclerosis was considered, but (like his mother) he has central neurofibromatosis. This condition must be considered in the differential
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddee266f0366c4a7e3da635edb83842d
https://doi.org/10.1111/j.1469-8749.1990.tb08434.x
https://doi.org/10.1111/j.1469-8749.1990.tb08434.x
Publikováno v:
Developmental Medicine & Child Neurology. 33:884-890
The head circumferences of 64 patients with Duchenne muscular dystrophy were measured and found to be greater than those of a normal population. The patients had relative, and in 12 cases, absolute macrocephaly. 47 of the 64 patients underwent intell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0409cc4e77340d07d0dcff44c5ed8404
https://doi.org/10.1111/j.1469-8749.1991.tb14797.x
https://doi.org/10.1111/j.1469-8749.1991.tb14797.x
Publikováno v:
Developmental Medicine & Child Neurology. 34:73-79
SUMMARY Familial paroxysmal rhabdomyolysis with myoglobinuria is a rare and life-threatening disease of young children, of unknown aetiology. Attacks bear no relation to exercise, are usually triggered by intercurrent infections and are often severe.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::219a330dbfbd5590df30aa1afaf33d13
https://doi.org/10.1111/j.1469-8749.1992.tb08567.x
https://doi.org/10.1111/j.1469-8749.1992.tb08567.x
Autor:
D. Gardner-Medwin, J. Murray
Publikováno v:
Ibis. 100:313-318
Summary Three weeks were spent on the Spanish side of the western Pyrenees in March and April. At the Col de Ibaneta and in the Roncal valley migrants were visible only in poor weather. At the top of the Col de Gavarnie very little migration was seen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::56840b8f771ac1b91c385975df217246
https://doi.org/10.1111/j.1474-919x.1958.tb00401.x
https://doi.org/10.1111/j.1474-919x.1958.tb00401.x
Publikováno v:
Proceedings of the Institution of Mechanical Engineers, Part H: Journal of Engineering in Medicine. 209:215-223
Winging of the scapula occurring in muscular disorders (muscular dystrophy and spinal muscular atrophy) or nerve injury has been investigated, resulting in a thorough understanding and presentation of the underlying biomechanics causing this occurren
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14618401bbbe1da92f5471cfaa396930
https://doi.org/10.1243/pime_proc_1995_209_348_02
https://doi.org/10.1243/pime_proc_1995_209_348_02
Publikováno v:
Neuropediatrics. 25:140-144
We report the radiological appearances of 5 children with hemimegalencephaly. There are few reports of this rare condition in the radiological literature. Two of the children have hemimegalencephaly as an isolated finding while the other three have P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b140724a365bf7c9835b70f68656d1a
https://doi.org/10.1055/s-2008-1073012
https://doi.org/10.1055/s-2008-1073012
Autor:
J L Welch, J.T. den Dunnen, I. B. Ginjaar, Ann Curtis, T J Butler, M A Johnson, D. Gardner-Medwin, Egbert Bakker, K. Bushby, L V Nicholson
Publikováno v:
Journal of Medical Genetics. 30:745-751
This report is the third part of a trilogy from a multidisciplinary study which was undertaken to investigate gene and protein expression in a large cohort of patients with well defined and diverse clinical phenotypes. The aim of part 3 was to review
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfceb1d5bd94ba065e08fda12d3b8a8e
https://doi.org/10.1136/jmg.30.9.745
https://doi.org/10.1136/jmg.30.9.745
Publikováno v:
Archives of Disease in Childhood. 68:632-636
The age when boys lose the ability to walk independently is one of the milestones in the progression of Duchenne muscular dystrophy (DMD). We have used this as a measure of disease severity in a group of 30 patients with DMD and six patients with int
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00ac305e05f183311b006fcf9e49157e
https://doi.org/10.1136/adc.68.5.632
https://doi.org/10.1136/adc.68.5.632
Publikováno v:
Neuropediatrics. 24:93-97
Details of disease progression and dystrophin expression are presented for three patients with Duchenne muscular dystrophy (DMD) who unexpectedly had intragenic deletions which maintained the open reading frame for mRNA translation. Analysis of dystr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::846e195fafbd0bc6123631c2116eb56a
https://doi.org/10.1055/s-2008-1071521
https://doi.org/10.1055/s-2008-1071521
Autor:
K. M. D. Bushby, D. Gardner-Medwin
Publikováno v:
Journal of Neurology. 240:98-104
We have investigated 67 patients with proven Becker muscular dystrophy (BMD) using a standard protocol including a detailed history and a functional and clinical examination. Our aim was to define the natural history of the disease in a large cohort
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d2d6dcfc2d148dbd5c681f94d5b2c2c
https://doi.org/10.1007/bf00858725
https://doi.org/10.1007/bf00858725