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Targeting oxidative stress improves disease outcomes in a rat model of acquired epilepsy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy.
- Published in:
- Journal of the Peripheral Nervous System, 2015, v. 20, n. 4, p. 415, doi. 10.1111/jns.12148
- By:
- Publication type:
- Article
Targeting oxidative stress improves disease outcomes in a rat model of acquired epilepsy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
An extremely severe phenotype attributed to WDR81 nonsense mutations.
- Published in:
- 2017
- By:
- Publication type:
- letter
Clinical guidelines in pediatric headache: evaluation of quality using the AGREE II instrument.
- Published in:
- Journal of Headache & Pain, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1129-2377-15-57
- By:
- Publication type:
- Article
Congenital Fiber Type Disproportion Myopathy.
- Published in:
- Clinical Pediatrics, 1985, v. 24, n. 4, p. 219, doi. 10.1177/000992288502400410
- By:
- Publication type:
- Article
Effects of antiepileptic therapy on bone mineral status evaluated by phalangeal quantitative ultrasound in pediatric patients with epilepsy and motor impairment.
- Published in:
- Minerva Pediatrics, 2023, v. 75, n. 4, p. 476, doi. 10.23736/S2724-5276.18.05235-0
- By:
- Publication type:
- Article
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 6, p. 940, doi. 10.1111/cge.13753
- By:
- Publication type:
- Article
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0240-y
- By:
- Publication type:
- Article
CNS involvement in OFD1 syndrome: A clinical, molecular, and neuroimaging study.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-74
- By:
- Publication type:
- Article
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Clinical description of a patient carrying the smallest reported deletion involving 10p14 region.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 832, doi. 10.1002/ajmg.a.34133
- By:
- Publication type:
- Article
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1697, doi. 10.1002/ajmg.a.33976
- By:
- Publication type:
- Article
The Pediatric Symptom Checklist as screening tool for neurological and psychosocial problems in a paediatric cohort of patients with coeliac disease.
- Published in:
- Acta Paediatrica, 2013, v. 102, n. 7, p. e325, doi. 10.1111/apa.12239
- By:
- Publication type:
- Article
Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome.
- Published in:
- Acta Paediatrica, 2006, v. 95, n. 7, p. 861, doi. 10.1080/08035250500527307
- By:
- Publication type:
- Article
Aminotransferases and muscular diseases: A disregarded lesson. Case reports and review of the literature.
- Published in:
- Journal of Paediatrics & Child Health, 2012, v. 48, n. 10, p. 886, doi. 10.1111/j.1440-1754.2010.01730.x
- By:
- Publication type:
- Article
Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements.
- Published in:
- Journal of Clinical Medicine, 2024, v. 13, n. 4, p. 1109, doi. 10.3390/jcm13041109
- By:
- Publication type:
- Article
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 190, doi. 10.1002/ajmg.a.36200
- By:
- Publication type:
- Article
Atypical expression of ß-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities.
- Published in:
- Clinical Genetics, 1978, v. 14, n. 1, p. 16, doi. 10.1111/j.1399-0004.1978.tb02055.x
- By:
- Publication type:
- Article
Long-Term Enzyme Replacement Therapy for Pompe Disease With Recombinant Human Alpha-glucosidase Derived From Chinese Hamster Ovary Cells.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 5, p. 565, doi. 10.1177/0883073807302598
- By:
- Publication type:
- Article