PubRank

F M Santorelli

Author PubWeight™ 85.23‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology 2009 2.33
2 Mitochondrial DNA haplogroups influence the therapeutic response to riboflavin in migraineurs. Neurology 2009 1.65
3 Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. Neurology 1997 1.58
4 Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. Neuropediatrics 2007 1.53
5 Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop. J Neurol Sci 2007 1.44
6 Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family. Neurology 2001 1.43
7 Lipoid proteinosis: case report and review of the literature. Acta Otorhinolaryngol Ital 2006 1.42
8 Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat 2008 1.27
9 Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. Neurology 2004 1.26
10 Glutathione in blood of patients with Friedreich's ataxia. Eur J Clin Invest 2001 1.22
11 Familial basilar migraine associated with a new mutation in the ATP1A2 gene. Neurology 2005 1.19
12 A novel mutation in SACS gene in a family from southern Italy. Neurology 2004 1.15
13 Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study. Neurology 2006 1.15
14 A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy. Hum Mutat 1994 1.13
15 Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies. Neurology 2010 1.07
16 SPG3A: An additional family carrying a new atlastin mutation. Neurology 2002 1.07
17 Clinical and molecular findings in patients with giant axonal neuropathy (GAN). Neurology 2004 1.06
18 Maternally inherited Leigh syndrome. J Pediatr 1993 1.05
19 Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts. Neurology 2003 1.04
20 Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses. Neurology 1998 1.02
21 About the "Pathological" role of the mtDNA T3308C mutationellipsis. Am J Hum Genet 1999 1.00
22 Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation"). Neurology 1993 0.99
23 A novel ATP1A2 mutation in a family with FHM type II. Cephalalgia 2006 0.99
24 Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. Am J Hum Genet 1999 0.98
25 Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin. Hum Mutat 2005 0.97
26 Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene. Neurology 2004 0.97
27 A novel mtDNA point mutation in maternally inherited cardiomyopathy. Biochem Biophys Res Commun 1995 0.96
28 Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. Neurology 2004 0.95
29 POMT2 mutation in a patient with 'MEB-like' phenotype. Neuromuscul Disord 2006 0.95
30 Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene. Neuromuscul Disord 2003 0.95
31 Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome. J Inherit Metab Dis 1996 0.95
32 Identification of novel WFS1 mutations in Italian children with Wolfram syndrome. Hum Mutat 2001 0.94
33 Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. Neurology 2003 0.94
34 Maternally inherited deafness associated with a T1095C mutation in the mDNA. Eur J Hum Genet 2001 0.94
35 Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology 1996 0.94
36 Muscle MRI in TRPV4-related congenital distal SMA. Neurology 2012 0.93
37 A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy. J Neurol 2006 0.92
38 HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation. J Inherit Metab Dis 2006 0.91
39 Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay. Eur J Neurol 2011 0.91
40 The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome. Neurology 2001 0.91
41 Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations. J Med Genet 2008 0.90
42 Detection of beta-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjögren). Acta Neuropathol 1999 0.90
43 Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy. Neurology 2009 0.90
44 Atypical hereditary spastic paraplegia mimicking multiple sclerosis associated with a novel SPG11 mutation. Eur J Neurol 2014 0.89
45 Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27. Neurology 2001 0.89
46 Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation. Neuropediatrics 2005 0.88
47 Congenital muscular dystrophies with cognitive impairment. A population study. Neurology 2010 0.88
48 Expanding the clinical spectrum of POMT1 phenotype. Neurology 2006 0.88
49 Mutation analysis in 16 patients with mtDNA depletion. Hum Mutat 2003 0.88
50 Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series. Eur J Neurol 2012 0.87
51 The mitochondrial A3243G mutation presenting as severe cardiomyopathy. J Med Genet 1997 0.87
52 Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene. Neurology 2013 0.86
53 The wolframin His611Arg polymorphism influences medication overuse headache. Neurosci Lett 2007 0.85
54 POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. Neuromuscul Disord 2008 0.85
55 Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G). Am J Med Genet 1994 0.85
56 Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays. J Neurol 2010 0.85
57 Uncoupling protein-1 mRNA expression in lipomas from patients bearing pathogenic mitochondrial DNA mutations. Biochem Biophys Res Commun 2000 0.85
58 Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletions. Neurology 1998 0.84
59 A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency. Neuromuscul Disord 2000 0.84
60 Comparative biochemical studies of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutations. J Inherit Metab Dis 1998 0.84
61 The ND1 T3308C mutation may be a mtDNA polymorphism. Report of two Portuguese patients. J Inherit Metab Dis 1999 0.83
62 Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid. J Am Coll Cardiol 1999 0.83
63 A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers. Neurology 1999 0.82
64 Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. Hum Mutat 2001 0.82
65 The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli. FEBS Lett 2000 0.82
66 Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family. Neurology 1999 0.81
67 Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency. Neuromuscul Disord 2012 0.81
68 Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7. Mol Genet Metab 2005 0.80
69 Primary adrenal insufficiency in a child with a mitochondrial DNA deletion. J Inherit Metab Dis 1998 0.80
70 [Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature]. Rev Neurol (Paris) 2008 0.79
71 Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Neurology 2001 0.79
72 Heterogeneous presentation in Leigh syndrome. J Inherit Metab Dis 1997 0.79
73 Migraine-like disorder segregating with mtDNA 14484 Leber hereditary optic neuropathy mutation. Neurology 2003 0.79
74 Large deletion mutation of SPAST in a multi-generation family from Sardinia. Eur J Neurol 2013 0.79
75 A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia. Hum Mutat 2000 0.79
76 Cavitating leukoencephalopathy in a child carrying the mitochondrial A8344G mutation. AJNR Am J Neuroradiol 2010 0.79
77 Mitochondrial DNA analysis in ocular myopathy. Observations in 29 Portuguese patients. Eur Neurol 1998 0.78
78 HyperCKemia as the only sign of McArdle's disease in a child. J Child Neurol 2000 0.78
79 The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy. J Pediatr 1999 0.78
80 A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL. Neuropediatrics 2000 0.78
81 Acute optic neuropathy associated with a novel MFN2 mutation. J Neurol 2015 0.77
82 The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families. J Neurol Sci 1999 0.77
83 Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11. Neuropediatrics 2010 0.77
84 A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children. Hum Mutat 2000 0.77
85 Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation. J Inherit Metab Dis 2001 0.76
86 Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome. Am J Med Genet 2000 0.76
87 Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay. Neurology 2010 0.76
88 MtDNA-related idiopathic dilated cardiomyopathy. Eur J Hum Genet 1999 0.76
89 Ataxia with oculomotor apraxia type 2: not always an easy diagnosis. Neurol Sci 2015 0.75
90 Respiratory chain defects in hereditary spastic paraplegias. Neuromuscul Disord 2001 0.75
91 Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome. Mol Cell Probes 2002 0.75
92 Migraine as a complex disease: heterogeneity, comorbidity and genotype-phenotype interactions. Funct Neurol 2000 0.75
93 A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling. Neurol Sci 2000 0.75
94 Genetic heterogeneity of myoclonus epilepsy with ragged-red fibers syndrome. Muscle Nerve 1998 0.75
95 A mitochondrial ATPase 6 mutation is associated with Leigh syndrome in a family and affects proton flow and adenosine triphosphate output when modeled in Escherichia coli. Acta Paediatr Suppl 2004 0.75
96 Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS. Clin Genet 2013 0.75
97 'When atlastin meets spastin'. Clin Genet 2014 0.75
98 DNA end labelling (TUNEL) in a 3 year old girl with Leigh syndrome and prevalent cortical involvement. J Neurol Neurosurg Psychiatry 2004 0.75
99 Mitochondrial myopathy mimicking fibromyalgia syndrome. Muscle Nerve 1999 0.75
100 Retinal migraine as unusual feature of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Cephalalgia 2004 0.75
101 mtDNA A3243G MELAS mutation is not associated with multigenerational female migraine. Neurology 2000 0.75
102 Heterogeneity in migraine: many genes for many phenotypes? Funct Neurol 2001 0.75
103 Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old Disease. Curr Mol Med 2014 0.75
104 Metabolic Ataxias in Adults. Curr Mol Med 2014 0.75
105 Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: patient report and literature review. J Pediatr Endocrinol Metab 1999 0.75
106 Clinical and molecular studies in three Portuguese mtDNA T8993G families. Pediatr Neurol 2000 0.75
107 Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion. Clin Genet 2002 0.75
108 Assessing the relative incidence of mitochondrial DNA A3243G in migraine without aura with maternal inheritance. Headache 2000 0.75
109 Abnormal H-Tfam in a patient harboring a single mtDNA deletion. Funct Neurol 2001 0.75
110 Neuronal ceroid lipofuscinosis: an ultrastructural, genetic, and clinical study report. Ultrastruct Pathol 2001 0.75
111 Combination of mtDNA mutations in a patient with a mitochondrial multisystem syndrome. J Hum Genet 2000 0.75
112 Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies. Eur J Neurol 2012 0.75
113 Encephalomyopathy with multiple mitochondrial DNA deletions and multiple symmetric lipomatosis: further evidence of a possible association. J Neurol 1999 0.75
114 Rapid detection of the 35delG mutation in the GJB2 gene in childhood deafness. J Med Screen 2000 0.75