Found: 15
Select item for more details and to access through your institution.
Bi‐allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2‐NAB complex.
- Published in:
- European Journal of Neurology, 2020, v. 27, n. 12, p. 2662, doi. 10.1111/ene.14512
- By:
- Publication type:
- Article
Clinical spectrum of BICD2 mutations.
- Published in:
- European Journal of Neurology, 2020, v. 27, n. 7, p. 1327, doi. 10.1111/ene.14173
- By:
- Publication type:
- Article
The EGR2 gene is involved in axonal Charcot−Marie−Tooth disease.
- Published in:
- European Journal of Neurology, 2015, v. 22, n. 12, p. 1548, doi. 10.1111/ene.12782
- By:
- Publication type:
- Article
Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 6, p. 565, doi. 10.1111/cge.12015
- By:
- Publication type:
- Article
Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 5, p. 491, doi. 10.1111/j.1399-0004.2011.01667.x
- By:
- Publication type:
- Article
Autoimmunity as a prognostic factor in sporadic adult onset cerebellar ataxia.
- Published in:
- Journal of Neurology, 2012, v. 259, n. 5, p. 851, doi. 10.1007/s00415-011-6266-8
- By:
- Publication type:
- Article
Fast Electrochemical Characterization of Historical Glasses Using Carbon Screen-Printed Electrodes and Ultrasonic Assisted Sampling.
- Published in:
- Electroanalysis, 2011, v. 23, n. 2, p. 521, doi. 10.1002/elan.201000408
- By:
- Publication type:
- Article
El papel humanizante del médico. Interpretación filosófica de la labor antropológica-social del profesional de la medicina.
- Published in:
- Revista Medica del IMSS, 2010, v. 48, n. 1, p. 87
- By:
- Publication type:
- Article
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAPI-associated neuropathy.
- Published in:
- 2008
- By:
- Publication type:
- Journal Article
Prognostic factors in the diagnostic work-up of cancer patients in an internal medicine department: does age matter?
- Published in:
- International Journal of Clinical Practice, 2008, v. 62, n. 11, p. 1723, doi. 10.1111/j.1742-1241.2008.01886.x
- By:
- Publication type:
- Article
Differentiating between malignant and idiopathic pleural effusions: the value of diagnostic procedures.
- Published in:
- QJM: An International Journal of Medicine, 2007, v. 100, n. 6, p. 351, doi. 10.1093/qjmed/hcm032
- By:
- Publication type:
- Article
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot–Marie–Tooth disease type 4.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 4, p. 343, doi. 10.1111/j.1399-0004.2007.00774.x
- By:
- Publication type:
- Article
Factors Influencing Length of Hospital Stay in Patients with Bacterial Pleural Effusion.
- Published in:
- Respiration, 2005, v. 72, n. 6, p. 587, doi. 10.1159/000087366
- By:
- Publication type:
- Article
Friedreich's Ataxia: An Epidemiological Study in Valencia, Spain, Based on Consanguinity Analysis.
- Published in:
- Neuroepidemiology, 1995, v. 14, n. 1, p. 14, doi. 10.1159/000109774
- By:
- Publication type:
- Article
Determination of paraquat by cathodic stripping voltammetry after accumulation through the formation of an ion pair on a hanging mercury drop electrode.
- Published in:
- Electroanalysis, 1993, v. 5, n. 1, p. 79, doi. 10.1002/elan.1140050112
- By:
- Publication type:
- Article