Zobrazeno 1 - 10
of 83
pro vyhledávání: '"J.Z. Heckmatt"'
Publikováno v:
Developmental Medicine and Child Neurology
SUMMARY Nineteen children with the clinical features of Prader‐Willi syndrome were karyotyped, using both routine Giemsa banding and high‐resolution techniques. Chromosome abnormalities involving chromosome 15 were found in 10, entirely normal ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6a5c532972363486d3cd0d0365dac4c
https://doi.org/10.1111/j.1469-8749.1985.tb04540.x
https://doi.org/10.1111/j.1469-8749.1985.tb04540.x
Autor:
Y. Khan, J.Z. Heckmatt
Publikováno v:
Neuromuscular Disorders. 7:75-80
Twelve non-ambulant patients with Duchenne muscular dystrophy underwent a double-blind cross-over clinical trial of slow-release theophylline for the treatment of asymptomatic sleep hypoxaemia. Eight channel polysomnography was carried out at home to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b5480a59e690ef70e3259f87f37b6ee
https://doi.org/10.1016/s0960-8966(96)00423-3
https://doi.org/10.1016/s0960-8966(96)00423-3
Publikováno v:
Archives of Disease in Childhood. 74:195-200
Eight ambulant children aged 6-13 years, four with congenital myopathy, two with congenital muscular dystrophy and two with the rigid spine syndrome, presented with recurrent chest infections, morning headaches, shallow breathing at night, or respira
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3b83b1ca75962a14cd8910d710f6653
https://doi.org/10.1136/adc.74.3.195
https://doi.org/10.1136/adc.74.3.195
Publikováno v:
Neuromuscular Disorders. 4:147-151
Two cases of continuous muscle fibre activity in infancy are reported. Both infants were severely affected and died from respiratory failure. Treatment with phenytoin and carbamazepine produced only temporary improvement. Electrophysiological and pha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25253d36b29478192f5b3cfda52aaf0d
https://doi.org/10.1016/0960-8966(94)90007-8
https://doi.org/10.1016/0960-8966(94)90007-8
Autor:
J.Z. Heckmatt
Publikováno v:
BMUS Bulletin. 1:28-31
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6a3bf28a94768f345aab859f3cb42545
https://doi.org/10.1177/1742271x9300100206
https://doi.org/10.1177/1742271x9300100206
Autor:
A. Sansome, Peter N. Strong, T G Sherratt, Victor Dubowitz, Angela Clerk, N. Hasson, E. Rodillo, J.Z. Heckmatt, Caroline Sewry
Publikováno v:
Neuromuscular Disorders. 3:141-148
Ten females presenting with muscle weakness and a raised serum creatine kinase revealed abnormalities in the expression of dystrophin in their muscle biopsies and were diagnosed as manifesting carriers of Xp21 Duchenne/Becker muscular dystrophy. Seve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bb9670bce84ad16620005c4914e863b
https://doi.org/10.1016/0960-8966(93)90006-6
https://doi.org/10.1016/0960-8966(93)90006-6
Autor:
Victor Dubowitz, S. Clark, J.Z. Heckmatt, Stephen Abbs, Adnan Y. Manzur, Martin Bobrow, Shirley Hodgson
Publikováno v:
Neuromuscular Disorders. 2:269-276
We report the results of screening for molecular deletions in 164 boys with DMD and BMD and correlation of deletions with clinical features. A deletion was detected in 100 cases (61%) by Southern blot hybridization analysis with cDNA probes. Thirty-e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7bcf94a1ac075af293cf544966f5baa
https://doi.org/10.1016/0960-8966(92)90059-f
https://doi.org/10.1016/0960-8966(92)90059-f
Autor:
B. L. Henderson, J.Z. Heckmatt, A. M. Peters, Marlene L. Rose, D. EL-Meleigy, Victor Dubowitz, N. Hasson
Publikováno v:
Clinical Science. 81:153-159
1. Renal haemodynamics were monitored over an average period of 19 months in 17 children being treated with cyclosporin A. Sixteen had juvenile dermatomyositis and one had chronic polyneuropathy. The dose of cyclosporin A ranged from 2.3 to 8.3 mg da
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7422764ab9489f4f168212112e3b4d8
https://doi.org/10.1042/cs0810153
https://doi.org/10.1042/cs0810153
Publikováno v:
Journal of the Neurological Sciences. 102:197-205
Dystrophin, the protein product of the Duchenne muscular dystrophy (DMD) gene, was studied in needle biopsy samples taken from the quadriceps muscle of 15 asymptomatic carriers of DMD (13 adults and 2 young girls) and one symptomatic adult carrier. A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a06d6ac8560dcc1a51bdca46b201a2a
https://doi.org/10.1016/0022-510x(91)90069-j
https://doi.org/10.1016/0022-510x(91)90069-j
Publikováno v:
Neuromuscular Disorders. 1:55-57
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e8ccaaf148c92c9d07263a9d4f43956
https://doi.org/10.1016/0960-8966(91)90043-r
https://doi.org/10.1016/0960-8966(91)90043-r