Published in BMC Nephrol on February 21, 2012
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Homoplasmic MELAS A3243G mtDNA mutation in a colon cancer sample. Mitochondrion (2003) 0.82
Successful left hemihepatectomy and perioperative management of a patient with biliary cystadenocarcinoma, complicated with MELAS syndrome: report of a case. Surg Today (2010) 0.81
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Vascular involvement in the pathogenesis of mitochondrial encephalomyopathies. Neurol Res (2010) 0.80
Mitochondrial A135149 mutation without MELAS but in association with papillary thyroid carcinoma. Clin Genet (2004) 0.79
Hereditary and non-hereditary microangiopathies in the young. An up-date. J Neurol Sci (2010) 0.79
An autopsy case of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) with intestinal bleeding in chronic renal failure. Ren Fail (2011) 0.78
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Friedrich Nietzsche (1844-1900): a classical case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome? J Med Biogr (2009) 0.77
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Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron (2010) 7.87
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol (2012) 5.18
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Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging (2011) 3.27
Supine Valdivia and modified lithotomy position for simultaneous anterograde and retrograde endourological access. BJU Int (2007) 2.24
Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report. Clin Chem Lab Med (2014) 2.04
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A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet (2009) 1.93
Medical therapy to facilitate the passage of stones: what is the evidence? Eur Urol (2009) 1.87
Use of haemostatic agents and glues during laparoscopic partial nephrectomy: a multi-institutional survey from the United States and Europe of 1347 cases. Eur Urol (2007) 1.82
Vegetarian low-protein diets supplemented with keto analogues: a niche for the few or an option for many? Nephrol Dial Transplant (2013) 1.76
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain (2012) 1.67
Contemporary management of ureteral stones. Eur Urol (2012) 1.65
Genetic counselling in ALS: facts, uncertainties and clinical suggestions. J Neurol Neurosurg Psychiatry (2013) 1.65
Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation. Neurobiol Aging (2009) 1.62
Thrombotic microangiopathy and anti-VEGF agents. Nephrol Dial Transplant (2006) 1.61
Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene. Arch Neurol (2011) 1.48
Perioperative and renal functional outcomes of elective robot-assisted partial nephrectomy (RAPN) for renal tumours with high surgical complexity. BJU Int (2014) 1.48
Histologic recurrence of Henoch-Schonlein Purpura nephropathy after renal transplantation on routine allograft biopsy. Transplantation (2011) 1.47
Why home hemodialysis? A systematic "marketing" analysis. J Nephrol (2012) 1.43
FUS mutations in sporadic amyotrophic lateral sclerosis. Neurobiol Aging (2010) 1.42
Intrasinusoidal bone marrow infiltration and splenic marginal zone lymphoma: a quantitative study. Eur J Haematol (2006) 1.41
Flexible pneumocystoscopy for double J stenting during laparoscopic and robot assisted pyeloplasty: our experience. Int J Urol (2010) 1.40
Etoposide, doxorubicin and cisplatin plus mitotane in the treatment of advanced adrenocortical carcinoma: a large prospective phase II trial. Endocr Relat Cancer (2005) 1.39
Extensive genetics of ALS: a population-based study in Italy. Neurology (2012) 1.39
Mutations and polymorphisms of the FSH receptor (FSHR) gene: clinical implications in female fecundity and molecular biology of FSHR protein and gene. Obstet Gynecol Surv (2008) 1.16
Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients. Proc Natl Acad Sci U S A (2010) 1.13
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. Neurobiol Aging (2012) 1.13
A de novo missense mutation of the FUS gene in a "true" sporadic ALS case. Neurobiol Aging (2010) 1.12
Rituximab in severe lupus nephritis: early B-cell depletion affects long-term renal outcome. Clin J Am Soc Nephrol (2009) 1.10
Neuroendocrine tumors of the thymus. Thorac Surg Clin (2011) 1.09
Fetal DNA detection in maternal plasma throughout gestation. Hum Genet (2005) 1.09
Chromogranin A expression in patients with hormone naïve prostate cancer predicts the development of hormone refractory disease. J Urol (2007) 1.08
Gemcitabine-induced thrombotic microangiopathy: a systematic review. Nephrol Dial Transplant (2006) 1.08
Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis. Neurobiol Aging (2012) 1.08
Effects of serum testosterone levels after 6 months of androgen deprivation therapy on the outcome of patients with prostate cancer. Clin Genitourin Cancer (2013) 1.07
Complications of laparoscopic surgery for renal masses: prevention, management, and comparison with the open experience. Eur Urol (2009) 1.07
Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations. Arch Neurol (2010) 1.06
Clinicopathological study of a series of 92 adrenocortical carcinomas: from a proposal of simplified diagnostic algorithm to prognostic stratification. Histopathology (2009) 1.06
Surgical treatment of glandular odontogenic cysts. J Craniofac Surg (2010) 1.05
ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations. J Neurol Neurosurg Psychiatry (2012) 1.04
Acute Tubular Necrosis and Interstitial Nephritis during Pemetrexed Therapy. Case Rep Oncol (2009) 1.04
Primary tumors of the thoracoabdominal aorta: surgical treatment of 5 patients and review of the literature. Ann Vasc Surg (2003) 1.04
Post-transplantation proteinuria and sirolimus. N Engl J Med (2005) 1.03
Ovarian hyper-stimulation syndrome after spontaneous conception. Gynecol Endocrinol (2009) 1.02
No evidence of fetal DNA persistence in maternal plasma after pregnancy. Hum Genet (2003) 1.02
Adefovir dipivoxil-induced acute tubular necrosis and Fanconi syndrome in a renal transplant patient. AIDS (2009) 1.01
Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of beta-thalassemia. Haematologica (2008) 1.01
HIV-associated kidney glomerular diseases: changes with time and HAART. Nephrol Dial Transplant (2012) 1.00
Human ASH1 expression in prostate cancer with neuroendocrine differentiation. Mod Pathol (2008) 1.00
Clinical and morphologic spectrum of renal involvement in patients with mixed cryoglobulinemia without evidence of hepatitis C virus infection. Medicine (Baltimore) (2009) 0.99
Prospective evaluation of mitotane toxicity in adrenocortical cancer patients treated adjuvantly. Endocr Relat Cancer (2008) 0.97
Contemporary management of adrenocortical carcinoma. Eur Urol (2011) 0.97
Chronic kidney disease may be differentially diagnosed from preeclampsia by serum biomarkers. Kidney Int (2012) 0.95
Laparoscopic nephron sparing surgery: a multi-institutional European survey of 592 cases. Arch Ital Urol Androl (2008) 0.95
Kidney diseases in HIV/HCV-co-infected patients. AIDS (2009) 0.95
Pregnancy in CKD: whom should we follow and why? Nephrol Dial Transplant (2012) 0.94
Open versus laparoscopic partial nephrectomy for clinical T1a renal masses: a matched-pair comparison of 280 patients with TRIFECTA outcomes (RECORd Project). World J Urol (2013) 0.94
The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia. J Pediatr (2009) 0.94
A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD. Neurobiol Aging (2011) 0.94
Mutational analysis of the VCP gene in Parkinson's disease. Neurobiol Aging (2011) 0.93
Head and neck squamous cell carcinoma: role of the human papillomavirus in tumour progression. New Microbiol (2006) 0.92
Traumatic ulcerative granuloma with stromal eosinophilia of the retromolar region. J Craniofac Surg (2009) 0.92
Review of 43 osteomas of the craniomaxillofacial region. J Oral Maxillofac Surg (2011) 0.92
The metabolic signature of C9ORF72-related ALS: FDG PET comparison with nonmutated patients. Eur J Nucl Med Mol Imaging (2014) 0.90
Profiling of aortic smooth muscle cell gene expression in response to chronic inhibition of nitric oxide synthase in rats. Circulation (2004) 0.89
Association of low-protein supplemented diets with fetal growth in pregnant women with CKD. Clin J Am Soc Nephrol (2014) 0.88
UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study. Neurobiol Aging (2012) 0.88
Absence of Mycobacterium tuberculosis in arterial lesions from patients with Takayasu's arteritis. J Rheumatol (2009) 0.87
Standard vs mini-laparoscopic pyeloplasty: perioperative outcomes and cosmetic results. BJU Int (2012) 0.87
FSH-receptor Ala307Thr polymorphism is associated to polycystic ovary syndrome and to a higher responsiveness to exogenous FSH in Italian women. J Assist Reprod Genet (2011) 0.86
Myxoid adrenocortical adenoma with a pseudoglandular pattern. Virchows Arch (2004) 0.85
Immune reconstitution inflammatory syndrome and acute granulomatous interstitial nephritis. AIDS (2007) 0.85
The prognostic role of immunohistochemical chromogranin a expression in prostate cancer patients is significantly modified by androgen-deprivation therapy. Prostate (2010) 0.85
Revisiting the localisation of Zn(2+) cations sorbed on pathological apatite calcifications made through X-ray absorption spectroscopy. Biochimie (2009) 0.84
The clinical and imaging presentation of acute "non complicated" pyelonephritis: a new profile for an ancient disease. BMC Nephrol (2011) 0.84
Homozygosity analysis in amyotrophic lateral sclerosis. Eur J Hum Genet (2013) 0.84
Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype? J Neurol (2012) 0.84
JAK2V617F mutation and allele burden are associated with distinct clinical and morphological subtypes in patients with essential thrombocythaemia. J Clin Pathol (2012) 0.84
Complete remission of monoclonal gammopathy with ocular and periorbital crystal storing histiocytosis and Fanconi syndrome. Hum Pathol (2013) 0.84
Psychological distress in men with prostate cancer receiving adjuvant androgen-deprivation therapy. Urol Oncol (2011) 0.83
Type 1 diabetes, diabetic nephropathy, and pregnancy: a systematic review and meta-study. Rev Diabet Stud (2013) 0.82
Is renal hyperfiltration protective in chronic kidney disease-stage 1 pregnancies? A step forward unravelling the mystery of the effect of stage 1 chronic kidney disease on pregnancy outcomes. Nephrology (Carlton) (2015) 0.82
Transcystic videolaparoscopy for choledocholithiasis with holmium: YAG laser lithotripsy. A case report. Chir Ital (2008) 0.82
Surgical treatment of an oral cyst with respiratory epithelium. J Craniofac Surg (2009) 0.82
Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis. Clin Chem (2007) 0.82
Systemic AA amyloidosis as a unique manifestation of a combined mutation of TNFRSF1A and MEFV genes. Amyloid (2013) 0.81
Loss of podocyte dysferlin expression is associated with minimal change nephropathy. Am J Kidney Dis (2006) 0.81
Positron emission tomography as a tool for the 'tailored' management of retroperitoneal fibrosis: a nephro-urological experience. Nephrol Dial Transplant (2010) 0.81
Drug-induced glomerulopathies. Expert Opin Drug Saf (2006) 0.81
Radiofrequency volume turbinate reduction versus partial turbinectomy: clinical and histological features. Am J Rhinol Allergy (2012) 0.80