Published in Eur J Hum Genet on January 13, 2010
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol (2014) 1.58
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. Ann Neurol (2012) 1.35
RNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies. Curr Gene Ther (2012) 0.79
Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review). Mol Med Rep (2014) 0.78
Clinical phenotype, muscle MRI and muscle pathology of LGMD1F. J Neurol (2013) 0.77
The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies. J Neuromuscul Dis (2015) 0.75
Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol (2000) 128.08
Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet (1996) 17.95
Mitochondrial respiratory-chain diseases. N Engl J Med (2003) 8.68
Computer-simulation methods in human linkage analysis. Proc Natl Acad Sci U S A (1989) 7.93
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet (1998) 2.72
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet (2000) 2.52
Probability of gene identity by descent: computation and applications. Biometrics (1994) 2.22
Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet (2000) 1.78
Limb-girdle muscular dystrophies. Curr Opin Neurol (2008) 1.42
Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function. Neuromuscul Disord (2002) 1.32
Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive Loci. Invest Ophthalmol Vis Sci (2008) 1.23
Nuclear genes in mitochondrial disorders. Curr Opin Genet Dev (2003) 1.10
Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am J Hum Genet (1997) 1.07
Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. Am J Hum Genet (1997) 1.01
Structure, Expression, and Function of a Novel Intercalated Disc Protein, Xin. J Med Sci (2005) 1.00
Molecular cloning of PalBH, a mammalian homologue of the Aspergillus atypical calpain PalB. Biochim Biophys Acta (2001) 0.99
Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. Am J Hum Genet (1999) 0.98
A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. Neurology (2003) 0.97
Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation. Neurology (2001) 0.95
A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. Eur J Hum Genet (2004) 0.88
66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands. Neuromuscul Disord (1999) 0.85
Multiple mitochondrial DNA deletions in hereditary inclusion body myopathy. Acta Neuropathol (2000) 0.81
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet (2006) 3.97
Effects of antiplatelet therapy on mortality and cardiovascular and bleeding outcomes in persons with chronic kidney disease: a systematic review and meta-analysis. Ann Intern Med (2012) 3.78
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet (2006) 2.97
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain (2012) 2.87
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet (2009) 2.72
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet (2012) 2.63
COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol (2007) 2.52
Analysis of glutathione: implication in redox and detoxification. Clin Chim Acta (2003) 2.48
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet (2007) 2.17
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy. Neuromuscul Disord (2010) 2.14
Treatment optimization and prediction of HCV clearance in patients with acute HCV infection. J Hepatol (2013) 2.04
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Hum Genet (2003) 1.95
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression. FASEB J (2007) 1.92
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol (2006) 1.89
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. Eur J Hum Genet (2004) 1.89
Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brain. J Neurosci (2006) 1.85
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet (2007) 1.82
miRNAs as serum biomarkers for Duchenne muscular dystrophy. EMBO Mol Med (2011) 1.80
Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. J Am Soc Nephrol (2002) 1.73
Prefrontal-hippocampal coupling during memory processing is modulated by COMT val158met genotype. Biol Psychiatry (2006) 1.71
Resting state fMRI in Alzheimer's disease: beyond the default mode network. Neurobiol Aging (2011) 1.70
Beneficial metabolic effects of prompt surgical treatment in patients with an adrenal incidentaloma causing biochemical hypercortisolism. J Clin Endocrinol Metab (2010) 1.69
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). Am J Hum Genet (2004) 1.67
VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. Invest Ophthalmol Vis Sci (2005) 1.65
Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet (2002) 1.64
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. Neurology (2013) 1.55
Hirayama disease: the importance of an early diagnosis. Neurol Sci (2015) 1.55
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol (2005) 1.54
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain (2007) 1.52
Interaction of COMT (Val(108/158)Met) genotype and olanzapine treatment on prefrontal cortical function in patients with schizophrenia. Am J Psychiatry (2004) 1.51
Addition of the multidimensional prognostic index to the estimated glomerular filtration rate improves prediction of long-term all-cause mortality in older patients with chronic kidney disease. Rejuvenation Res (2012) 1.51
The EphA2 receptor drives self-renewal and tumorigenicity in stem-like tumor-propagating cells from human glioblastomas. Cancer Cell (2012) 1.50
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet (2013) 1.50
Cetuximab plus FOLFOX-4 in untreated patients with advanced colorectal cancer: a Gruppo Oncologico dell'Italia Meridionale Multicenter phase II study. Oncology (2011) 1.48
Cardiac and pulmonary investigations in Bethlem myopathy. Arch Neurol (2006) 1.47
Mirna expression profiles identify drivers in colorectal and pancreatic cancers. PLoS One (2012) 1.47
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet (2013) 1.46
Noninvasive ventilation in children with spinal muscular atrophy types 1 and 2. Am J Phys Med Rehabil (2007) 1.44
Botulinum toxin type B for sialorrhoea in children with cerebral palsy: a randomized trial comparing three doses. Dev Med Child Neurol (2011) 1.44
Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss. Am J Hum Genet (2003) 1.43
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Hum Mutat (2009) 1.43
Ischemic preconditioning targets the respiration of synaptic mitochondria via protein kinase C epsilon. J Neurosci (2008) 1.43
Changes in CpG islands promoter methylation patterns during ductal breast carcinoma progression. Cancer Epidemiol Biomarkers Prev (2009) 1.43
Genetic heterogeneity in Italian families with IgA nephropathy: suggestive linkage for two novel IgA nephropathy loci. Am J Hum Genet (2006) 1.41
Sedlin controls the ER export of procollagen by regulating the Sar1 cycle. Science (2012) 1.41
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients. Eur J Hum Genet (2005) 1.38
24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy. PLoS One (2013) 1.34
Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I. J Biol Chem (2006) 1.33
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. Orphanet J Rare Dis (2011) 1.32
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Hum Mutat (2010) 1.32
Retracted mTERF2 regulates oxidative phosphorylation by modulating mtDNA transcription. Cell Metab (2009) 1.31
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet (2012) 1.31
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. Brain (2010) 1.30
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol (2012) 1.29
Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol (2012) 1.28
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet (2010) 1.27
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. Eur J Hum Genet (2005) 1.27
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain (2007) 1.27
HmtDB, a genomic resource for mitochondrion-based human variability studies. Nucleic Acids Res (2011) 1.26
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. J Inherit Metab Dis (2012) 1.26
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Ann Neurol (2003) 1.26
Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. Proc Natl Acad Sci U S A (2012) 1.26
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. Hum Mol Genet (2013) 1.26
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat (2012) 1.25
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. Neuromuscul Disord (2010) 1.25
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest (2014) 1.24
Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive Loci. Invest Ophthalmol Vis Sci (2008) 1.23
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. Brain (2008) 1.22
Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol (2010) 1.22
Malignant pancreatic endocrine tumor in a child with tuberous sclerosis. Am J Surg Pathol (2003) 1.21
Iron-related MRI images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: results of a phase II pilot trial. Mov Disord (2011) 1.21
Regulation of KEAP1 expression by promoter methylation in malignant gliomas and association with patient's outcome. Epigenetics (2011) 1.20
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. Neuromuscul Disord (2002) 1.19
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. Acta Neuropathol Commun (2014) 1.18
Joubert syndrome and related disorders. Handb Clin Neurol (2013) 1.17
EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome. Mol Genet Metab (2012) 1.17
De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol (2008) 1.17
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. Neurology (2012) 1.17
Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex. J Biol Chem (2003) 1.16
Renal involvement in mitochondrial cytopathies. Pediatr Nephrol (2011) 1.16
WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes. Pediatr Nephrol (2006) 1.16
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. Orphanet J Rare Dis (2012) 1.15
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. Hum Genet (2001) 1.15
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. Hum Mutat (2006) 1.14
Pathogenetic role of the deafness-related M34T mutation of Cx26. Hum Mol Genet (2006) 1.14
Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations. Mol Genet Metab (2011) 1.13
Frequent epigenetics inactivation of KEAP1 gene in non-small cell lung cancer. Epigenetics (2011) 1.12
Characterization of recessive RYR1 mutations in core myopathies. Hum Mol Genet (2006) 1.12
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. Am J Hum Genet (2012) 1.11