PubRank

Corrado Angelini

Author PubWeight™ 93.89‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration. Brain 2006 2.22
2 Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells. Nat Protoc 2012 2.12
3 Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. Am J Hum Genet 2012 1.88
4 Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum Mutat 2006 1.61
5 Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes. Neuromuscul Disord 2012 1.59
6 Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. Neurology 2013 1.55
7 Ultrastructural changes in LGMD1F. Neuropathology 2012 1.43
8 Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. Eur J Hum Genet 2011 1.33
9 Gene expression profiling in dysferlinopathies using a dedicated muscle microarray. Hum Mol Genet 2002 1.32
10 Human skeletal muscle atrophy in amyotrophic lateral sclerosis reveals a reduction in Akt and an increase in atrogin-1. FASEB J 2006 1.31
11 Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene. Genomics 2002 1.30
12 A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function. Hum Mol Genet 2008 1.20
13 Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. J Neurol Sci 2007 1.20
14 Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. Neurology 2012 1.17
15 Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. Eur J Hum Genet 2011 1.16
16 A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score. Muscle Nerve 2010 1.15
17 Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients. J Transl Med 2010 1.13
18 The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? J Neurol 2013 1.09
19 Myelo-optico-neuropathy in copper deficiency occurring after partial gastrectomy. Do small bowel bacterial overgrowth syndrome and occult zinc ingestion tip the balance? J Neurol 2007 1.07
20 MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromuscul Disord 2007 1.07
21 Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease. Am J Pathol 2006 1.07
22 Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency. Neurology 2008 1.07
23 Motor function-muscle strength relationship in spinal muscular atrophy. Muscle Nerve 2004 1.07
24 Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. PLoS One 2013 1.07
25 Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression. Am J Pathol 2003 1.05
26 The frequency of limb girdle muscular dystrophy 2A in northeastern Italy. Neuromuscul Disord 2005 1.05
27 Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. Brain 2013 1.05
28 Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders. Mitochondrion 2011 1.03
29 Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy. BMC Med 2009 1.02
30 Phenotype modulators in myophosphorylase deficiency. Ann Neurol 2003 1.02
31 Molecular and muscle pathology in a series of caveolinopathy patients. Hum Mutat 2005 1.02
32 Decorin and biglycan expression is differentially altered in several muscular dystrophies. Brain 2005 1.01
33 Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy. Neuromuscul Disord 2009 1.01
34 Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. Neuromuscul Disord 2004 0.99
35 Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology. Am J Pathol 2002 0.98
36 Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study. J Child Neurol 2003 0.98
37 Redefining phenotypes associated with mitochondrial DNA single deletion. J Neurol 2015 0.98
38 Clinical and genetic characterization of Chanarin-Dorfman syndrome. Biochem Biophys Res Commun 2008 0.97
39 Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases. Orphanet J Rare Dis 2013 0.96
40 Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. Arch Neurol 2005 0.96
41 Dominant muscular dystrophy with a novel SYNE1 gene mutation. Muscle Nerve 2014 0.96
42 Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2. Muscle Nerve 2008 0.93
43 TGFBR2 but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscle. J Pathol 2012 0.93
44 Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients. Genet Test 2007 0.92
45 How to tackle the diagnosis of limb-girdle muscular dystrophy 2A. Eur J Hum Genet 2008 0.91
46 The role of botulinum toxin injection and upper esophageal sphincter myotomy in treating oropharyngeal dysphagia. J Gastrointest Surg 2004 0.90
47 Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients. Autophagy 2012 0.90
48 Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy. Brain 2013 0.90
49 Amyotrophic lateral sclerosis with ragged-red fibers. Arch Neurol 2008 0.89
50 Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2. Gene Expr 2007 0.88
51 Psychopathological features and suicidal ideation in amyotrophic lateral sclerosis patients. Neurol Sci 2010 0.88
52 Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia. Eur Neurol 2006 0.88
53 Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E. Neuromuscul Disord 2006 0.88
54 Gender difference in limb-girdle muscular dystrophy: a muscle fiber morphometric study in 101 patients. Clin Neuropathol 2014 0.87
55 Familial polyglucosan body myopathy with unusual phenotype. Neuropathol Appl Neurobiol 2015 0.86
56 Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies. BMC Musculoskelet Disord 2012 0.85
57 Alterations in Notch signalling in skeletal muscles from mdx and dko dystrophic mice and patients with Duchenne muscular dystrophy. Exp Physiol 2014 0.84
58 Pilot trial of clenbuterol in spinal and bulbar muscular atrophy. Neurology 2013 0.84
59 Subacute sensory ataxia and optic neuropathy with thiamine deficiency. Nat Rev Neurol 2010 0.84
60 Sarcolemmal neuronal nitric oxide synthase defect in limb-girdle muscular dystrophy: an adverse modulating factor in the disease course? J Neuropathol Exp Neurol 2009 0.84
61 Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. Muscle Nerve 2011 0.84
62 Inhibition of proteasome activity promotes the correct localization of disease-causing alpha-sarcoglycan mutants in HEK-293 cells constitutively expressing beta-, gamma-, and delta-sarcoglycan. Am J Pathol 2008 0.84
63 Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study. Eur J Hum Genet 2012 0.83
64 Detection of HTLV-I tax-rex and pol gene sequences of thymus gland in a large group of patients with myasthenia gravis. J Acquir Immune Defic Syndr 2002 0.83
65 Myoclonus in mitochondrial disorders. Mov Disord 2014 0.82
66 Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. Eur J Hum Genet 2012 0.82
67 Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function. Audiol Neurootol 2007 0.82
68 Comparison of muscle ultrastructure in myasthenia gravis with anti-MuSK and anti-AChR antibodies. J Neurol 2010 0.82
69 Muscle histopathology in upper motor neuron-dominant amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2008 0.82
70 "I have got something positive out of this situation": psychological benefits of caregiving in relatives of young people with muscular dystrophy. J Neurol 2013 0.82
71 Genotype-phenotype correlation in Pompe disease, a step forward. Orphanet J Rare Dis 2014 0.81
72 Enzyme replacement therapy improves respiratory outcomes in patients with late-onset type II glycogenosis and high ventilator dependency. Lung 2013 0.81
73 Natural history of upper motor neuron-dominant ALS. Amyotroph Lateral Scler 2010 0.81
74 McArdle disease: the mutation spectrum of PYGM in a large Italian cohort. Hum Mutat 2006 0.81
75 Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency. Neurol Res 2010 0.81
76 A pilot trial with clenbuterol in amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2006 0.81
77 Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease. J Clin Endocrinol Metab 2014 0.81
78 Muscle atrophy, ubiquitin-proteasome, and autophagic pathways in dysferlinopathy. Muscle Nerve 2014 0.80
79 A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres. J Med Genet 2007 0.80
80 Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin-responsive, multiple acyl-CoA dehydrogenase deficiency patient. Electrophoresis 2006 0.80
81 TDP-43 in skeletal muscle of patients affected with amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2010 0.80
82 Skeletal muscle satellite cells in amyotrophic lateral sclerosis. Ultrastruct Pathol 2014 0.79
83 Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report. J Inherit Metab Dis 2010 0.79
84 Childhood dermatomyositis associated with intracranial tumor and liver cysts. Eur J Paediatr Neurol 2006 0.79
85 Expression profiling characterization of laminin alpha-2 positive MDC. Biochem Biophys Res Commun 2006 0.78
86 Biochemical and ultrastructural evidence of endoplasmic reticulum stress in LGMD2I. Virchows Arch 2007 0.78
87 Decreased fatty acid beta-oxidation in riboflavin-responsive, multiple acylcoenzyme A dehydrogenase-deficient patients is associated with an increase in uncoupling protein-3. J Clin Endocrinol Metab 2003 0.78
88 Comparative transcriptional and biochemical studies in muscle of myotonic dystrophies (DM1 and DM2). Neurol Sci 2009 0.78
89 Novel spastin mutations and their expression analysis in two Italian families. Eur J Hum Genet 2003 0.78
90 Co-segregation of LMNA and PMP22 gene mutations in the same family. Neuromuscul Disord 2005 0.78
91 Transcriptional and translational effects of intronic CAPN3 gene mutations. Hum Mutat 2010 0.78
92 Circulating microRNAs as biomarkers of muscle differentiation and atrophy in ALS. Clin Neuropathol 2015 0.78
93 Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. Hum Mutat 2003 0.77
94 A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E. Neurogenetics 2005 0.77
95 Clinical phenotype, muscle MRI and muscle pathology of LGMD1F. J Neurol 2013 0.77
96 Parkinson-like features in ALS with predominant upper motor neuron involvement. Amyotroph Lateral Scler 2011 0.77
97 Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I. J Clin Invest 2017 0.76
98 Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship. Orphanet J Rare Dis 2013 0.76
99 Effects of Functional Electrical Stimulation Lower Extremity Training in Myotonic Dystrophy Type I: A Pilot Controlled Study. Am J Phys Med Rehabil 2016 0.75
100 Impaired copper and iron metabolism in blood cells and muscles of patients affected by copper deficiency myeloneuropathy. Neuropathol Appl Neurobiol 2014 0.75
101 The role of ultrastructural examination in storage diseases. Ultrastruct Pathol 2010 0.75
102 Recent advances and current clinical perspectives in the diagnosis and treatment of glycogenosis type II. Neurology 2008 0.75
103 Disorders of lipid metabolism. Handb Clin Neurol 2007 0.75