Published in J Neurol on December 01, 1999
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet (2013) 9.46
Oxidative DNA damage in peripheral leukocytes of mild cognitive impairment and AD patients. Neurobiol Aging (2005) 4.88
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology (2009) 2.33
APOE and Alzheimer disease: a major gene with semi-dominant inheritance. Mol Psychiatry (2011) 2.31
Control of postoperative pain by transcutaneous electrical nerve stimulation after thoracic operations. Ann Thorac Surg (1997) 2.18
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology (2006) 2.11
Clinical and biochemical features of muscle dysfunction in subclinical hypothyroidism. J Clin Endocrinol Metab (1997) 2.04
Expression of proinflammatory and Th1 but not Th2 cytokines is enhanced in gastric mucosa of Helicobacter pylori infected children. Dig Liver Dis (2001) 1.77
Causative and susceptibility genes for Alzheimer's disease: a review. Brain Res Bull (2003) 1.76
Type 1 fiber abnormalities in skeletal muscle of patients with hypertrophic and dilated cardiomyopathy: evidence of subclinical myogenic myopathy. J Am Coll Cardiol (1989) 1.76
Mitochondrial DNA haplogroups influence the therapeutic response to riboflavin in migraineurs. Neurology (2009) 1.65
IV amantadine improves chorea in Huntington's disease: an acute randomized, controlled study. Neurology (2003) 1.60
Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. Neurology (1997) 1.58
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. Neuropediatrics (2007) 1.53
Stability and compatibility of the mixture of tramadol, ketorolac, metoclopramide and ranitidine in a solution for intravenous perfusion. Farm Hosp (2010) 1.51
Serum gamma-glutamyl-transpeptidase isoforms in alcoholic liver disease. Alcohol Alcohol (1997) 1.46
Factor V Leiden mutation in a case with ischemic stroke: which relationship? A case report. Angiology (1998) 1.45
Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop. J Neurol Sci (2007) 1.44
Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family. Neurology (2001) 1.43
Lipoid proteinosis: case report and review of the literature. Acta Otorhinolaryngol Ital (2006) 1.42
Late whiplash syndrome: a clinical and magnetic resonance imaging study. Funct Neurol (2000) 1.41
An atypical presentation of sporadic adult-onset centronuclear myopathy. Clin Neuropathol (2007) 1.39
Vertebral and carotid artery dissection following chiropractic cervical manipulation. Neurosurg Rev (1999) 1.38
Spinal epidural hematoma onset with Horner syndrome. Acta Neurol Belg (2009) 1.38
Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2). Neuromuscul Disord (2003) 1.33
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat (2008) 1.27
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. Neurology (2004) 1.26
Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am J Hum Genet (2001) 1.23
Glutathione in blood of patients with Friedreich's ataxia. Eur J Clin Invest (2001) 1.22
Recurrence of thymoma: analysis of clinicopathologic features, treatment, and outcome. J Thorac Cardiovasc Surg (1997) 1.22
Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease. Mol Psychiatry (2012) 1.20
Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study. J Neurol Neurosurg Psychiatry (2008) 1.19
Familial basilar migraine associated with a new mutation in the ATP1A2 gene. Neurology (2005) 1.19
Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations. Neuromuscul Disord (2001) 1.18
TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations. Eur J Neurol (2009) 1.18
Pathophysiology of hemimasticatory spasm. J Neurol Neurosurg Psychiatry (1994) 1.18
A novel mutation in SACS gene in a family from southern Italy. Neurology (2004) 1.15
Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study. Neurology (2006) 1.15
Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A). Am J Hum Genet (1996) 1.13
A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy. Hum Mutat (1994) 1.13
EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia. Eur J Neurol (2010) 1.13
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. J Neurol (2011) 1.11
Pharmacological prophylaxis of post-traumatic epilepsy. Drugs (2000) 1.11
Paroxetine in Parkinson's disease: effects on motor and depressive symptoms. Neurology (2000) 1.11
Thymomas. A review of 169 cases, with particular reference to results of surgical treatment. Cancer (1986) 1.11
Alteration of cardiac function in patients with temporal lobe epilepsy: different roles of EEG-ECG monitoring and spectral analysis of RR variability. Epilepsia (1997) 1.10
Molecular diagnosis in LGMD2A: mutation analysis or protein testing? Hum Mutat (2004) 1.10
Frequency and mortality of acute lung injury and acute respiratory distress syndrome after pulmonary resection for bronchogenic carcinoma. Eur J Cardiothorac Surg (2001) 1.09
Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families. Neuromuscul Disord (2000) 1.09
High prevalence of restless legs syndrome in multiple sclerosis. Eur J Neurol (2007) 1.08
Mirror neurons: action observation treatment as a tool in stroke rehabilitation. Eur J Phys Rehabil Med (2010) 1.07
SPG3A: An additional family carrying a new atlastin mutation. Neurology (2002) 1.07
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies. Neurology (2010) 1.07
Clinical and molecular findings in patients with giant axonal neuropathy (GAN). Neurology (2004) 1.06
Linking DNA damage to medulloblastoma tumorigenesis in patched heterozygous knockout mice. Oncogene (2006) 1.06
Combined radiosurgical treatment of Pancoast tumor. Ann Thorac Surg (1994) 1.05
Maternally inherited Leigh syndrome. J Pediatr (1993) 1.05
Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts. Neurology (2003) 1.04
Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses. Neurology (1998) 1.02
Bilateral medial frontal infarction in a case of azygous anterior cerebral artery stenosis. Ital J Neurol Sci (1998) 1.02
Brainstem neurodegeneration correlates with clinical dysfunction in SCA1 but not in SCA2. A quantitative volumetric, diffusion and proton spectroscopy MR study. Brain (2004) 1.02
Astrocyte-neuron interactions in neurological disorders. J Biol Phys (2009) 1.01
Molecular and clinical examination of an Italian DEFECT11 family. Eur J Hum Genet (1999) 1.01
Effects of aerobic training on lactate and catecholaminergic exercise responses in mitochondrial myopathies. Neuromuscul Disord (2000) 1.01
About the "Pathological" role of the mtDNA T3308C mutationellipsis. Am J Hum Genet (1999) 1.00
A low-cost interface for control of computer functions by means of eye movements. Comput Biol Med (2007) 1.00
Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation"). Neurology (1993) 0.99
Risk of arrhythmia in type I myotonic dystrophy: the role of clinical and genetic variables. J Neurol Neurosurg Psychiatry (2009) 0.99
A novel ATP1A2 mutation in a family with FHM type II. Cephalalgia (2006) 0.99
MRI and MR angiography of vertebral artery dissection. Neuroradiology (1997) 0.99
CSF phosporylated TAU protein levels correlate with cerebral glucose metabolism assessed with PET in Alzheimer's disease. Brain Res Bull (2008) 0.99
Detection and quasispecies analysis of hepatitis C virus in the cerebrospinal fluid of infected patients. J Neurovirol (1999) 0.99
Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. Am J Hum Genet (1999) 0.98
Assessment of midbrain atrophy in patients with progressive supranuclear palsy with routine magnetic resonance imaging. Acta Neurol Scand (2007) 0.98
BDNF Val66Met polymorphism is associated with cognitive impairment in Italian patients with Parkinson's disease. Eur J Neurol (2009) 0.98
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin. Hum Mutat (2005) 0.97
Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene. Neurology (2004) 0.97
Mitral subvalvular apparatus: different functions of primary and secondary chordae. Circulation (1997) 0.96
From mild cognitive impairment to dementia: a prevalence study in a district of Tuscany, Italy. Acta Neurol Scand (2005) 0.96