Published in J Neurol on August 01, 1986
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Functional arteries grown in vitro. Science (1999) 6.08
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Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet (1998) 3.08
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Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. Neurology (2008) 1.74
Cerebellar ataxia and coenzyme Q10 deficiency. Neurology (2003) 1.73
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A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts. J Pediatr (1994) 1.59
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. Neuropediatrics (2007) 1.53
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NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet (2005) 1.47
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology (2003) 1.45
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am J Med Genet A (2008) 1.44
Epilepsia partialis continua and neuronal migration anomalies. Brain Dev (1992) 1.44
Helicobacter pylori-induced gastritis in the domestic cat. Infect Immun (1995) 1.43
Sacral medial telangiectatic vascular nevus: a study of 43 children. Dermatology (1996) 1.40
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Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13. Nat Genet (1996) 1.36
Lead poisoning during heroin addiction. Ital J Neurol Sci (1989) 1.32
Gap junctions in myo-endothelial bridges of rabbit carotid arteries. Experientia (1982) 1.32
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Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. Am J Hum Genet (2001) 1.30
A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. Am J Hum Genet (1998) 1.28
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. Neurology (2004) 1.26
Pompe's disease: an inborn lysosomal disorder with storage of glycogen. A study of brain and striated muscle. Acta Neuropathol (1973) 1.24
Glutathione in blood of patients with Friedreich's ataxia. Eur J Clin Invest (2001) 1.22
Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III. J Pediatr (1990) 1.22
Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts. Matrix Biol (2001) 1.22
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Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. Am J Hum Genet (1998) 1.20
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology (2007) 1.19
Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. Am J Med Genet (1988) 1.18
Hemimegalencephaly and intractable epilepsy: benefits of hemispherectomy. Epilepsia (1990) 1.16
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Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. Hum Mol Genet (1997) 1.15
Tonic-clonic seizures in a patient with primary hypoparathyroidism: a case report. Clin EEG Neurosci (2004) 1.13
Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy. Neurology (1998) 1.12
Experimental hypercholesterolemia induces apoptosis in the aortic valve. J Heart Valve Dis (2001) 1.10
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies. Neurology (1991) 1.10
Progressive cardiac failure following orthotopic liver transplantation for type IV glycogenosis. Eur J Pediatr (1992) 1.09
Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy. Pediatr Res (1990) 1.09
A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy. Biochem Biophys Res Commun (1999) 1.09
Phenotypic clustering of lamin A/C mutations in neuromuscular patients. Neurology (2007) 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
A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. Am J Hum Genet (1996) 1.07
Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association. Kidney Int (2006) 1.06
Clinical and molecular findings in patients with giant axonal neuropathy (GAN). Neurology (2004) 1.06
Acid maltase deficiency in non-identical adult twins. A morphological and biochemical study. J Neurol (1976) 1.06
Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers. Am J Med Genet (1988) 1.06
Myxoid dermatofibrosarcoma protuberans: morphological, ultrastructural and immunohistochemical features. J Cutan Pathol (1998) 1.05
Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria. Am J Med Genet (1994) 1.04
New clinical phenotype of branched-chain acyl-CoA oxidation defect. Lancet (1991) 1.04
Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts. Neurology (2003) 1.04
The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability. Neuromuscul Disord (2010) 1.04
Morphometric analysis of gap junctions in regenerating arterial endothelium. Lab Invest (1982) 1.03
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clin Genet (2008) 1.03
Central cervical cord syndrome after heading a football. Lancet (1978) 1.03
Clinical features, risk factors, and prognosis in transient global amnesia: a follow-up study. Eur J Neurol (2005) 1.03
Plasma levels of metalloproteinases-3 and -9 as markers of successful abdominal aortic aneurysm exclusion after endovascular graft treatment. Circulation (2001) 1.02
On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family. Acta Neuropathol (1994) 1.01
Laminopathies: many diseases, one gene. Report of the first Italian Meeting Course on Laminopathies. Acta Myol (2011) 1.01
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study. Neuromuscul Disord (2006) 1.01
Fatal infantile liver failure associated with mitochondrial DNA depletion. J Pediatr (1992) 1.01
Autoradiographic studies of the smooth muscle cells in human arteries. Paroi Arterielle (1981) 1.00
Aging influences development and progression of early aortic atherosclerotic lesions in cholesterol-fed rabbits. Arterioscler Thromb Vasc Biol (2000) 0.99
Rat aortic smooth muscle cells isolated from different layers and at different times after endothelial denudation show distinct biological features in vitro. Arterioscler Thromb (1994) 0.99
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen. Neuromuscul Disord (1999) 0.99
Dynamics of viral load in plasma and HIV DNA in lymphocytes during highly active antiretroviral therapy (HAART): high viral burden in macrophages after 1 year of treatment. J Chemother (2001) 0.99
Flow cytometry analysis of atherosclerotic plaque cells from human carotids: a validation study. Cytometry (2000) 0.98
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases. Ann Neurol (2000) 0.98
The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy. Neurology (1997) 0.98
Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus. Neuromuscul Disord (2001) 0.98
Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes. Neuromuscul Disord (2005) 0.98
Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene. Neurology (2004) 0.97
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. Neurology (2005) 0.97
Sarcomatoid transitional cell carcinoma of the renal pelvis. A report of five cases with clinical, pathological, immunohistochemical and DNA ploidy analysis. Pathol Res Pract (1996) 0.97
Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy. Neurology (1993) 0.96
Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle. J Neurol Sci (1992) 0.96
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. Neurology (2004) 0.95
Post-traumatic malignant glioma. Report of a case. Ital J Neurol Sci (1996) 0.95
POMT2 mutation in a patient with 'MEB-like' phenotype. Neuromuscul Disord (2006) 0.95