Found: 30
Select item for more details and to access through your institution.
Multicore myopathy: respiratory failure and paraspinal muscle contractures are important complications.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Deletion status and intellectual impairment in Duchenne muscular dystrophy.
- Published in:
- 1995
- By:
- Publication type:
- journal article
Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3.
- Published in:
- Human Genetics, 2005, v. 117, n. 2/3, p. 207, doi. 10.1007/s00439-005-1301-4
- By:
- Publication type:
- Article
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.
- Published in:
- 2004
- By:
- Publication type:
- Journal Article
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)
- Published in:
- 2003
- By:
- Publication type:
- Journal Article
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
- Published in:
- Annals of Neurology, 2000, v. 48, n. 2, p. 170, doi. 10.1002/1531-8249(200008)48:2<170::AID-ANA6>3.0.CO;2-J
- By:
- Publication type:
- Article
Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 2, p. 166, doi. 10.1111/cge.12695
- By:
- Publication type:
- Article
Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?
- Published in:
- Clinical Genetics, 2011, v. 80, n. 4, p. 398, doi. 10.1111/j.1399-0004.2010.01620.x
- By:
- Publication type:
- Article
Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2.
- Published in:
- Brain: A Journal of Neurology, 1998, v. 121, n. 4, p. 581, doi. 10.1093/brain/121.4.581
- By:
- Publication type:
- Article
Review Limb-girdle muscular dystrophies – from genetics to molecular pathology.
- Published in:
- Neuropathology & Applied Neurobiology, 2004, v. 30, n. 2, p. 91, doi. 10.1111/j.1365-2990.2004.00555.x
- By:
- Publication type:
- Article
EFNS nuorodos apie galūnių-juosmens raumenų distrofijų diagnostiką ir gydymą.
- Published in:
- Neurologijos Seminarai, 2008, v. 12, n. 3, p. 170
- By:
- Publication type:
- Article
EUROPLAN: A Project to Support the Development of National Plans on Rare Diseases in Europe.
- Published in:
- Public Health Genomics, 2014, v. 16, n. 6, p. 278, doi. 10.1159/000355932
- By:
- Publication type:
- Article
Genetics and the muscular dystrophies.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Head circumference and intellectual performance of patients with Duchenne muscular dystrophy.
- Published in:
- 1991
- By:
- Publication type:
- journal article
Hereditary Vascular Dementia Linked to Notch 3 Mutations: CADASIL in British Families.
- Published in:
- Annals of the New York Academy of Sciences, 2000, v. 903, n. 1, p. 293, doi. 10.1111/j.1749-6632.2000.tb06379.x
- By:
- Publication type:
- Article
Intolerance to ß-blockade in a mouse model of δ-sarcoglycan-deficient muscular dystrophy cardiomyopathy.
- Published in:
- 2010
- By:
- Publication type:
- journal article
MR imaging in Duchenne muscular dystrophy: quantification of T1-weighted signal, contrast uptake, and the effects of exercise.
- Published in:
- 2009
- By:
- Publication type:
- journal article
EFNS guideline on diagnosis and management of limb girdle muscular dystrophies.
- Published in:
- European Journal of Neurology, 2007, v. 14, n. 12, p. 1305, doi. 10.1111/j.1468-1331.2007.01979.x
- By:
- Publication type:
- Article
Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy.
- Published in:
- Child: Care, Health & Development, 2013, v. 39, n. 3, p. 449, doi. 10.1111/j.1365-2214.2012.01387.x
- By:
- Publication type:
- Article
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 1, p. 147, doi. 10.1093/brain/awn289
- By:
- Publication type:
- Article
Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP).
- Published in:
- 2008
- By:
- Publication type:
- journal article
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
- Published in:
- 2007
- By:
- Publication type:
- journal article
How to go about diagnosing and managing the limb-girdle muscular dystrophies.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Limb-girdle muscular dystrophy: a follow-up study of 79 patients.
- Published in:
- Acta Neurologica Scandinavica, 1996, v. 94, n. 3, p. 177, doi. 10.1111/j.1600-0404.1996.tb07050.x
- By:
- Publication type:
- Article
Steroid treatment causes deterioration of myocardial function in the δ-sarcoglycan-deficient mouse model for dilated cardiomyopathy.
- Published in:
- Cardiovascular Research, 2008, v. 79, n. 4, p. 652, doi. 10.1093/cvr/cvn131
- By:
- Publication type:
- Article
New Zealand parent's perceptions of the use and safety of over the counter liquid analgesics.
- Published in:
- Pharmacy Practice (1886-3655), 2010, v. 8, n. 4, p. 238, doi. 10.4321/S1886-36552010000400006
- By:
- Publication type:
- Article
Cardiomyopathy in duchenne, becker, and sarcoglycanopathies: a role for coronary dysfunction?
- Published in:
- 1999
- By:
- Publication type:
- journal article
Jejunocolic fistula after radiation for malignant teratoma.
- Published in:
- 1989
- By:
- Publication type:
- journal article
Jejunocolic fistula after radiation for malignant teratoma.
- Published in:
- Journal of the Royal Society of Medicine, 1989, v. 82, n. 1, p. 54, doi. 10.1177/014107688908200126
- By:
- Publication type:
- Article