Published in J Neurol Neurosurg Psychiatry on August 13, 2007
Myofibrillar myopathies. Neuromuscul Disord (2011) 1.45
Distinct muscle imaging patterns in myofibrillar myopathies. Neurology (2008) 1.41
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. Ann Neurol (2012) 1.35
Myofibrillar myopathies. Curr Opin Neurol (2008) 1.00
Lower limb radiology of distal myopathy due to the S60F myotilin mutation. Eur Neurol (2009) 0.80
Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype? J Neurol Sci (2008) 0.79
Novel recessive myotilin mutation causes severe myofibrillar myopathy. Neurogenetics (2014) 0.76
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet (2013) 9.46
Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology (2006) 6.44
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet (1998) 4.38
A controlled trial of high-dose intravenous immune globulin infusions as treatment for dermatomyositis. N Engl J Med (1993) 3.74
Mitochondrial myopathy caused by long-term zidovudine therapy. N Engl J Med (1990) 3.52
Segregation of leading-edge and uropod components into specific lipid rafts during T cell polarization. Proc Natl Acad Sci U S A (2001) 2.55
APOE and Alzheimer disease: a major gene with semi-dominant inheritance. Mol Psychiatry (2011) 2.31
The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study. Neurology (2011) 2.06
Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol (2001) 2.05
Retention of permanent incisors by mesiodens: a family affair. Br Dent J (2000) 2.04
Guidelines for treatment of autoimmune neuromuscular transmission disorders. Eur J Neurol (2010) 2.03
Randomized controlled trial of intravenous immunoglobulin versus oral prednisolone in chronic inflammatory demyelinating polyradiculoneuropathy. Ann Neurol (2001) 2.00
Infusion of platelets transiently reduces nucleoside overload in MNGIE. Neurology (2006) 1.98
Gene expression of ERCC1 as a novel prognostic marker in advanced bladder cancer patients receiving cisplatin-based chemotherapy. Ann Oncol (2007) 1.96
Telemedicine as a tool for intensive management of diabetes: the DIABTel experience. Comput Methods Programs Biomed (2002) 1.83
The SIESTA method; developments and applicability. J Phys Condens Matter (2008) 1.83
Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies. Neurology (2010) 1.79
Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients. Neurology (2001) 1.60
Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms. Neurology (2008) 1.53
Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study. Brain (1991) 1.53
Acute polyneuropathy in critically ill patients. Intensive Care Med (1990) 1.49
Focal exertional rhabdomyolysis associated with a hemangioma steal syndrome. Am J Med (2000) 1.45
The expanding clinical profile of anti-AMPA receptor encephalitis. Neurology (2010) 1.44
Treatment with pegylated interferon alpha-2b and ribavirin in patients unresponsive to previous treatments with standard interferon as monotherapy or combined with ribavirin. Rev Esp Enferm Dig (2005) 1.43
Location of aortic node metastases in locally advanced cervical cancer. Gynecol Oncol (2012) 1.42
[Assessment of calf circumference as an indicator of the risk for hyponutrition in the elderly]. Nutr Hosp (2009) 1.40
[Opinion survey on renal donation from living donor]. Nefrologia (2005) 1.39
[Imaging diagnosis of hepatocellular carcinoma. Addendum to hepatocellular carcinoma: diagnosis, staging and treatment strategies]. Radiologia (2011) 1.39
An early description of striatonigral degeneration. J Neurol (1999) 1.39
[Cesarean section in a patient with acute myocardial infarction during pregnancy]. Rev Esp Anestesiol Reanim (2007) 1.39
Clinical status of motoneuron disease does not correlate with serum neurotoxicity on cultured neurons. Acta Neurol Scand (1992) 1.39
[Antiganglioside antibodies: when, which and for what]. Neurologia (2001) 1.39
Brain infarction after postcoital contraception in a migraine patient. J Neurol (2002) 1.38
[The polymerase chain reaction as a marker of cytomegalovirus infection in heart transplant recipients]. Med Clin (Barc) (1999) 1.38
[Cardiac arrest after the administration of fentanyl and vecuronium during a laparotomy]. Rev Esp Anestesiol Reanim (1993) 1.38
Study of the interference of haemolysis in the determination of creatinine in the Technicon DAX-72 (Bayer) Eur J Clin Chem Clin Biochem (1997) 1.38
Natural bioactive compounds of Citrus limon for food and health. J Pharm Biomed Anal (2009) 1.35
[Spanish version of the CAM-ICU (Confusion Assessment Method for the Intensive Care Unit). Pilot study of validation]. Med Intensiva (2009) 1.31
Psychological characteristics of morbidly obese candidates for bariatric surgery. Obes Surg (2008) 1.28
Inter-laboratory validation of an ELISA for the determination of serum anti-ganglioside antibodies. Eur J Neurol (1999) 1.28
Partial Removal of Lipopolysaccharide from Thiobacillus ferrooxidans Affects Its Adhesion to Solids. Appl Environ Microbiol (1994) 1.27
Urokinase-dependent plasminogen activation is required for efficient skeletal muscle regeneration in vivo. Blood (2001) 1.25
Surfactant protein genetic marker alleles identify a subgroup of tuberculosis in a Mexican population. J Infect Dis (2000) 1.24
Diagnostic strategy for familial and sporadic cases of neuropathy associated with 17p11.2 deletion. Muscle Nerve (2001) 1.23
[Torsade de pointes and cardiorespiratory arrest induced by azithromycin in a patient with congenital long QT syndrome]. Med Clin (Barc) (2001) 1.22
A new phenotype of dysferlinopathy with congenital onset. Neuromuscul Disord (2008) 1.20
Protein phosphatase 1alpha is a Ras-activated Bad phosphatase that regulates interleukin-2 deprivation-induced apoptosis. EMBO J (2000) 1.20
Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease. Mol Psychiatry (2012) 1.20
Hereditary "pure" spastic paraplegia: a study of nine families. J Neurol Neurosurg Psychiatry (1993) 1.20
Reduced-intensity conditioning allogeneic transplantation is associated with a high incidence of extramedullary relapses in multiple myeloma patients. Leukemia (2006) 1.20
Neuroendocrine cervical carcinoma: a diagnostic and therapeutic challenge. Gynecol Oncol (2001) 1.19
Long-lasting treatment effect of rituximab in MuSK myasthenia. Neurology (2012) 1.19
Dysferlin expression in monocytes: a source of mRNA for mutation analysis. Neuromuscul Disord (2006) 1.17
Impact of highly active antiretroviral therapy on blood pressure in HIV-infected patients. A prospective study in a cohort of naive patients. HIV Med (2006) 1.16
Myasthenia gravis: a higher than expected incidence in the elderly. Neurology (2003) 1.16
Responsiveness of different rating instruments in spinocerebellar ataxia patients. Neurology (2010) 1.15
Safety and immunogenicity of a paediatric presentation of an influenza vaccine. Arch Dis Child (2000) 1.14
Clinical evaluation of an in-house IS6110 polymerase chain reaction for diagnosis of tuberculosis. Eur J Clin Microbiol Infect Dis (2000) 1.13
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Neurology (2001) 1.13
Study of resistance to anti-tuberculosis drugs in five districts of Equatorial Guinea: rates, risk factors, genotyping of gene mutations and molecular epidemiology. Int J Tuberc Lung Dis (2004) 1.11
Cyclopia and sirenomelia in a liveborn infant. J Med Genet (1998) 1.09
Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group. Hum Genet (1999) 1.08
[Serological certification of the interruption of the vectorial transmission of Chagas disease in Chile]. Rev Med Chil (2001) 1.08
[Conjunctivitis caused by Aeromonas hydrophila]. Enferm Infecc Microbiol Clin (1997) 1.08
[Primary non-Hodgkin's lymphoma of the breast]. Med Clin (Barc) (1993) 1.07
Road traffic noise around schools: a risk for pupil's performance? Int Arch Occup Environ Health (1993) 1.06
[Size of breast cancer at the time of initial diagnosis]. Med Clin (Barc) (1992) 1.05
Prevalence of hereditary motor and sensory neuropathy in Cantabria. Acta Neurol Scand (1987) 1.05
A leishmaniosis surveillance system among stray dogs in the region of Madrid: ten years of serodiagnosis (1996-2006). Parasitol Res (2007) 1.05
European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of multifocal motor neuropathy. Eur J Neurol (2006) 1.04
Confined displacement algorithm determines true and random colocalization in fluorescence microscopy. J Microsc (2010) 1.04
[Trypanosoma cruzi transplacental infection: situation in Chile]. Rev Med Chil (2001) 1.04
Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study. Neurology (1998) 1.03
Mycoflora of paddy and milled rice produced in the region of northeastern Argentina and southern Paraguay. Int J Food Microbiol (1997) 1.03
Comparison of techniques and evaluation of three commercial monoclonal antibodies for laboratory diagnosis of varicella-zoster virus in mucocutaneous specimens. J Clin Microbiol (1994) 1.03
Molecular epidemiology of bovine tuberculosis in wild animals in Spain: a first approach to risk factor analysis. Vet Microbiol (2005) 1.02
Association of the shared epitope with radiological severity of rheumatoid arthritis. J Rheumatol (1996) 1.01
Prospective study assessing hypoxia-related proteins as markers for the outcome of treatment with sunitinib in advanced clear-cell renal cell carcinoma. Ann Oncol (2013) 1.01
Phenolic compounds in Spanish olive oils. J Agric Food Chem (1999) 1.00
Low serum VEGF levels are associated with Alzheimer's disease. Acta Neurol Scand (2007) 1.00
Chromosome loss is the most frequent mechanism contributing to HLA haplotype loss in human tumors. Int J Cancer (1999) 1.00
Effect of intraventricular injection of an anti-Purkinje cell antibody (anti-Yo) in a guinea pig model. J Neurol Sci (1991) 1.00
SCA Functional Index: a useful compound performance measure for spinocerebellar ataxia. Neurology (2008) 1.00
Evaluation of micromorphological changes in tooth enamel after mechanical and ultrafast laser preparation of surface cavities. Lasers Med Sci (2012) 1.00
Unresponsiveness to interferon associated with STAT1 protein deficiency in a gastric adenocarcinoma cell line. Cancer Immunol Immunother (1998) 0.99
Phase I-II study of paclitaxel, cisplatin, and gemcitabine in advanced transitional-cell carcinoma of the urothelium. Spanish Oncology Genitourinary Group. J Clin Oncol (2000) 0.99
Partial dysferlin reconstitution by adult murine mesoangioblasts is sufficient for full functional recovery in a murine model of dysferlinopathy. Cell Death Dis (2010) 0.99
Lipid and lipoprotein metabolism in Hep G2 cells. Biochim Biophys Acta (1988) 0.99
Development of a molecular diagnostic test applied to experimental abattoir surveillance on bovine tuberculosis. Vet Microbiol (2007) 0.99