Published in Mol Genet Metab on May 30, 2012
Phenotypical variation within 22 families with Pompe disease. Orphanet J Rare Dis (2013) 0.81
The influence of a polymorphism in the gene encoding angiotensin converting enzyme (ACE) on treatment outcomes in late-onset Pompe patients receiving alglucosidase alfa. Mol Genet Metab Rep (2016) 0.75
Endovascular treatment for acute ischemic stroke. N Engl J Med (2013) 8.45
Muscle MRI in inherited neuromuscular disorders: past, present, and future. J Magn Reson Imaging (2007) 1.91
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol (2010) 1.80
Postinfectious neurologic syndromes: a prospective cohort study. Neurology (2013) 1.73
Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma. N Engl J Med (2004) 1.72
Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet (2002) 1.69
A proportion of patients with lymphoma may harbor mutations of the perforin gene. Blood (2005) 1.54
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network. Genet Med (2007) 1.52
Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. Blood (2002) 1.49
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. Am J Med Genet A (2010) 1.49
The N3 potential compared to sound and galvanic vestibular evoked myogenic potential in healthy subjects and in multiple sclerosis patients. J Vestib Res (2007) 1.41
Electroclinical findings in four patients with karyotype 47,XYY. Brain Dev (2010) 1.41
Spinal cord calcification in an early-onset progressive leukoencephalopathy. J Child Neurol (2011) 1.41
A short protocol for muscle MRI in children with muscular dystrophies. Eur J Paediatr Neurol (2002) 1.34
Multiple sclerosis: hyperintense dentate nucleus on unenhanced T1-weighted MR images is associated with the secondary progressive subtype. Radiology (2009) 1.27
Air pollution and lung function in the European Community Respiratory Health Survey. Int J Epidemiol (2008) 1.18
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. Hum Mutat (2002) 1.13
Distribution and determinants of house dust mite allergens in Europe: the European Community Respiratory Health Survey II. J Allergy Clin Immunol (2006) 1.10
Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia. Dig Dis Sci (2011) 1.06
Cat and dust mite allergen levels, specific IgG and IgG4, and respiratory symptoms in adults. J Allergy Clin Immunol (2007) 1.03
Epidemiology and clinical aspects of Werner's syndrome in North Sardinia: description of a cluster. Eur J Dermatol (2007) 1.02
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat (2007) 1.01
The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies. Br J Haematol (2009) 0.99
Grade of pulmonary right-to-left shunt on contrast echocardiography and cerebral complications: a striking association. Chest (2013) 0.98
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. Arch Neurol (2006) 0.98
Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia. Br J Haematol (2009) 0.96
Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome. Eur J Pediatr (2002) 0.95
Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. Genes Chromosomes Cancer (2006) 0.95
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II. J Inherit Metab Dis (2010) 0.95
Brain white matter impairment in congenital adrenal hyperplasia. Arch Neurol (2006) 0.95
Cutaneous metaplastic synovial cyst in Ehlers-Danlos syndrome: report of a second case. Am J Dermatopathol (2008) 0.93
High prevalence of hepatic focal nodular hyperplasia in subjects with hereditary hemorrhagic telangiectasia. Ultrasound Med Biol (2004) 0.93
Muscle MRI in adult-onset acid maltase deficiency. Neuromuscul Disord (2004) 0.92
Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function. Blood (2006) 0.92
Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies. J Hum Genet (2007) 0.91
PM2.5 assessment in 21 European study centers of ECRHS II: Method and first winter results. J Air Waste Manag Assoc (2003) 0.91
Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients. Eur J Hum Genet (2008) 0.90
Trunk muscle involvement in late-onset Pompe disease: study of thirty patients. Neuromuscul Disord (2012) 0.90
Cat allergen level: its determinants and relationship to specific IgE to cat across European centers. J Allergy Clin Immunol (2006) 0.90
Inverse relationship between multiple sclerosis and allergic respiratory diseases. Neurol Sci (2009) 0.89
Severe steroid-resistant post-infectious encephalomyelitis: general features and effects of IVIg. J Neurol (2007) 0.89
Clinical, genetic and immunologic analysis of a family affected by ozena. Eur Arch Otorhinolaryngol (2003) 0.89
Domestic use of hypochlorite bleach, atopic sensitization, and respiratory symptoms in adults. J Allergy Clin Immunol (2009) 0.89
Pisa syndrome in Parkinson's disease: clinical, electromyographic, and radiological characterization. Mov Disord (2011) 0.87
Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression. Br J Haematol (2002) 0.87
Limbic hyperconnectivity in the vegetative state. Neurology (2013) 0.86
Cerebrospinal fluid levels of tau phosphorylated at threonine 181 in patients with Alzheimer's disease and vascular dementia. Neurol Sci (2008) 0.86
Specific polymorphisms of cytokine genes are associated with different risks to develop single-system or multi-system childhood Langerhans cell histiocytosis. Br J Haematol (2006) 0.86
Nasu-Hakola disease: a rare entity in Italy. Critical review of the literature. Funct Neurol (2004) 0.86
Transient global amnesia: hippocampal magnetic resonance imaging abnormalities. Funct Neurol (2009) 0.85
The effects of alcohol on cognition in the elderly: from protection to neurodegeneration. Funct Neurol (2011) 0.85
Binding of Streptococcus gordonii to extracellular matrix proteins. FEMS Microbiol Lett (2006) 0.85
Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response. J Inherit Metab Dis (2010) 0.85
The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease. Genet Med (2010) 0.84
Magnetic resonance spectroscopy in the evaluation of treatment efficacy in unipolar major depressive disorder: a review of the literature. Funct Neurol (2012) 0.83
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. Eur J Hum Genet (2006) 0.82
Ptosis in Pompe disease: common genetic background in infantile and adult series. J Neuroophthalmol (2010) 0.82
Pathogenetic role of myelitis for syringomyelia. Clin Neurol Neurosurg (2007) 0.82
Genotype-phenotype correlation in Pompe disease, a step forward. Orphanet J Rare Dis (2014) 0.81
COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers. Neuropediatrics (2012) 0.81
Abnormal cell surface antigen expression in individuals with variant CD45 splicing and histiocytosis. Pediatr Res (2003) 0.81
Advanced magnetic resonance imaging in benign hereditary chorea: study of two familial cases. Mov Disord (2010) 0.80
Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain. PLoS One (2011) 0.80
A machine learning pipeline for multiple sclerosis course detection from clinical scales and patient reported outcomes. Conf Proc IEEE Eng Med Biol Soc (2015) 0.80
Ptosis as a feature of late-onset glycogenosis type II. Neurology (2007) 0.80
Correlation of severity of epistaxis with nasal telangiectasias in hereditary hemorrhagic telangiectasia (HHT) patients. Am J Rhinol Allergy (2009) 0.79
Familial myelodysplastic syndromes, monosomy 7/trisomy 8, and mutator effects. Cancer Genet Cytogenet (2004) 0.79
Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome. Haematologica (2012) 0.79
Spectroscopic magnetic resonance imaging of the brain: voxel localisation and tissue segmentation in the follow up of brain tumour. Funct Neurol (2009) 0.78
Galanin and α-MSH autoantibodies in cerebrospinal fluid of patients with Alzheimer's disease. J Neuroimmunol (2011) 0.78
Electrode displacement after intracerebral hematoma as a complication of a deep brain stimulation procedure. Neuropsychiatr Dis Treat (2009) 0.78
Argon plasma coagulation is an effective treatment for hereditary hemorrhagic telangiectasia patients with severe nosebleeds. Acta Otolaryngol (2012) 0.78
Familial platelet disorder with propensity to acute myelogenous leukemia: genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies. Genes Chromosomes Cancer (2004) 0.78
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia. Pediatr Blood Cancer (2011) 0.78
Ocular manifestations in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): a case-series. Ophthalmic Genet (2010) 0.77
Interobserver agreement in diagnosing liver involvement in hereditary hemorrhagic telangiectasia by Doppler ultrasound. Ultrasound Med Biol (2008) 0.77
Enzyme replacement therapy in severe adult-onset glycogen storage disease type II. Adv Ther (2008) 0.77
Complications in major depressive disorder therapy: a review of magnetic resonance spectroscopy studies. Funct Neurol (2009) 0.77
A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events. Am J Med Genet A (2015) 0.77
Prognostic factors for late-onset Pompe disease with enzyme replacement therapy: The two sides of low BMI. Mol Genet Metab (2010) 0.77
Increase of circulating endothelial cells in patients with Hereditary Hemorrhagic Telangiectasia. Int J Hematol (2014) 0.77
Novel hypomyelinating leukoencephalopathy affecting early myelinating structures: clinical course in two brothers. Neuropediatrics (2013) 0.77
Attention deficit hyperactivity disorder (ADHD): from a childhood neuropsychiatric disorder to an adult condition. Funct Neurol (2011) 0.77
Histiocytic disorders. Hematol J (2003) 0.76
Dietary treatment in adult-onset type II glycogenosis. J Inherit Metab Dis (2006) 0.76
Incidence of Shwachman-Diamond syndrome. Pediatr Blood Cancer (2012) 0.76