PubRank

E Bertini

Author PubWeight™ 149.72‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989 3.75
2 Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 1998 3.08
3 Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology 2008 2.57
4 Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology 2009 2.33
5 Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; report of three expert workshops: TREAT-NMD/ENMC workshop on outcome measures, 12th--13th May 2007, Naarden, The Netherlands; TREAT-NMD workshop on outcome measures in experimental trials for DMD, 30th June--1st July 2007, Naarden, The Netherlands; conjoint Institute of Myology TREAT-NMD meeting on physical activity monitoring in neuromuscular disorders, 11th July 2007, Paris, France. Neuromuscul Disord 2008 2.23
6 Reliability of the North Star Ambulatory Assessment in a multicentric setting. Neuromuscul Disord 2009 2.13
7 Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology 2006 2.11
8 Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study. Neurology 2011 2.06
9 Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet 2001 2.00
10 GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. Neurology 2007 1.93
11 Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. Neurology 2005 1.85
12 RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol 2010 1.75
13 Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. Neurology 2008 1.74
14 Cerebellar ataxia and coenzyme Q10 deficiency. Neurology 2003 1.73
15 Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci U S A 2001 1.69
16 The effect of genotype on the natural history of eIF2B-related leukodystrophies. Neurology 2004 1.63
17 A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts. J Pediatr 1994 1.59
18 Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. Neuropediatrics 2007 1.53
19 NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet 2005 1.47
20 Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology 2003 1.45
21 Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am J Med Genet A 2008 1.44
22 Epilepsia partialis continua and neuronal migration anomalies. Brain Dev 1992 1.44
23 Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13. Nat Genet 1996 1.36
24 Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. Am J Hum Genet 2001 1.30
25 Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. Neurology 2004 1.26
26 Glutathione in blood of patients with Friedreich's ataxia. Eur J Clin Invest 2001 1.22
27 Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts. Matrix Biol 2001 1.22
28 Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. Am J Hum Genet 1998 1.20
29 Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology 2007 1.19
30 Hemimegalencephaly and intractable epilepsy: benefits of hemispherectomy. Epilepsia 1990 1.16
31 Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. Hum Mol Genet 1997 1.15
32 Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy. Neurology 1998 1.12
33 Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies. Neurology 1991 1.10
34 A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy. Biochem Biophys Res Commun 1999 1.09
35 Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy. Pediatr Res 1990 1.09
36 Phenotypic clustering of lamin A/C mutations in neuromuscular patients. Neurology 2007 1.07
37 Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies. Neurology 2010 1.07
38 SPG3A: An additional family carrying a new atlastin mutation. Neurology 2002 1.07
39 A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. Am J Hum Genet 1996 1.07
40 Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association. Kidney Int 2006 1.06
41 Clinical and molecular findings in patients with giant axonal neuropathy (GAN). Neurology 2004 1.06
42 Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers. Am J Med Genet 1988 1.06
43 New clinical phenotype of branched-chain acyl-CoA oxidation defect. Lancet 1991 1.04
44 Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts. Neurology 2003 1.04
45 The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability. Neuromuscul Disord 2010 1.04
46 RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clin Genet 2008 1.03
47 Clinical features, risk factors, and prognosis in transient global amnesia: a follow-up study. Eur J Neurol 2005 1.03
48 Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study. Neuromuscul Disord 2006 1.01
49 Laminopathies: many diseases, one gene. Report of the first Italian Meeting Course on Laminopathies. Acta Myol 2011 1.01
50 Fatal infantile liver failure associated with mitochondrial DNA depletion. J Pediatr 1992 1.01
51 A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen. Neuromuscul Disord 1999 0.99
52 Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases. Ann Neurol 2000 0.98
53 The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy. Neurology 1997 0.98
54 Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes. Neuromuscul Disord 2005 0.98
55 Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene. Neurology 2004 0.97
56 Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. Neurology 2005 0.97
57 Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy. Neurology 1993 0.96
58 Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle. J Neurol Sci 1992 0.96
59 Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. Neurology 2004 0.95
60 POMT2 mutation in a patient with 'MEB-like' phenotype. Neuromuscul Disord 2006 0.95
61 Experience on therapy of adrenoleukodystrophy and adrenomyeloneuropathy. Dev Neurosci 1991 0.95
62 The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients. Neurology 2005 0.95
63 A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus. Neuromuscul Disord 2007 0.94
64 Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. Neurology 2003 0.94
65 A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation. Neurology 2002 0.94
66 Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. J Pediatr 1991 0.93
67 Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. J Inherit Metab Dis 1998 0.93
68 Immune complexes in preeclampsia and normal pregnancy. Am J Obstet Gynecol 1985 0.92
69 Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation. Neurology 2000 0.92
70 Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay. Eur J Neurol 2011 0.91
71 Spinal muscular atrophies: recent insights and impact on molecular diagnosis. J Mol Med (Berl) 1996 0.91
72 Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3. Neurogenetics 2013 0.91
73 The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome. Neurology 2001 0.91
74 Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy. Neurology 2009 0.90
75 Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27. Neurology 2001 0.89
76 Expanding the clinical spectrum of POMT1 phenotype. Neurology 2006 0.88
77 The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study. Neuromuscul Disord 2007 0.88
78 Congenital muscular dystrophies with cognitive impairment. A population study. Neurology 2010 0.88
79 Mutation analysis in 16 patients with mtDNA depletion. Hum Mutat 2003 0.88
80 Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies. Ann Hum Genet 2006 0.87
81 The CFC syndrome--report of the first two cases outside the United States. Am J Med Genet 1987 0.87
82 Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene. Neurology 2013 0.86
83 Bilateral, reversible, selective thalamic involvement demonstrated by brain MR and acute severe neurological dysfunction with favorable outcome. Neuropediatrics 1994 0.86
84 Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. J Neurol Neurosurg Psychiatry 2005 0.86
85 POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. Neuromuscul Disord 2008 0.85
86 Transcriptional behavior of DMD gene duplications in DMD/BMD males. Hum Mutat 2009 0.85
87 Effect of protein glutathionylation on neuronal cytoskeleton: a potential link to neurodegeneration. Neuroscience 2011 0.84
88 A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency. Neuromuscul Disord 2000 0.84
89 Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications. Clin Genet 2007 0.84
90 Duchenne muscular dystrophy and epilepsy. Neuromuscul Disord 2013 0.83
91 Bilateral striatal necrosis, dystonia and optic atrophy in two siblings. J Neurol Neurosurg Psychiatry 1992 0.83
92 The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female cases. J Neurol 1986 0.83
93 Antioxidant enzymes in blood of patients with Friedreich's ataxia. Arch Dis Child 2002 0.83
94 Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome. Neuromuscul Disord 2000 0.83
95 Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children. Neurology 2005 0.83
96 98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The Netherlands. Neuromuscul Disord 2002 0.82
97 Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. Hum Mutat 2001 0.82
98 High dose immunoglobulin IV treatment in adrenoleukodystrophy. J Neurol Neurosurg Psychiatry 1994 0.81
99 Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopenia. Clin Exp Immunol 2001 0.81
100 Increased muscle expression of interleukin-17 in Duchenne muscular dystrophy. Neurology 2012 0.81
101 Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations. Hum Mutat 2000 0.81
102 Hypoparathyroidism in mitochondrial trifunctional protein deficiency. J Pediatr 1996 0.81
103 Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency. Neuromuscul Disord 2012 0.81
104 Six minute walk test in type III spinal muscular atrophy: a 12month longitudinal study. Neuromuscul Disord 2013 0.80
105 A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient. Biochem Biophys Res Commun 1998 0.80
106 Interferon-alpha may benefit steroid unresponsive chronic inflammatory demyelinating polyneuropathy. J Neurol Neurosurg Psychiatry 1995 0.80
107 A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies. Neuromuscul Disord 2013 0.79
108 Neurophysiologic follow-up of long-term dietary treatment in adult-onset adrenoleukodystrophy. Neurology 1999 0.79
109 Diaphragmatic paralysis due to partial diaphragmatic hypoplasia mimicking a localized muscular dystrophy: a case report. Clin Neuropathol 1988 0.79
110 Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Neurology 2001 0.79
111 Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker-Warburg syndrome. Ultrasound Obstet Gynecol 2009 0.79
112 X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter. Am J Med Genet 1996 0.79
113 A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia. Hum Mutat 2000 0.79
114 De novo alpha-actin mutations in monozygotic twins. Clin Genet 2005 0.79
115 Neurophysiological abnormalities in adrenoleukodystrophy carriers. Evidence of different degrees of central nervous system involvement. Brain 1997 0.79
116 X-linked adrenoleukodystrophy: first report of the Italian Study Group. Ital J Neurol Sci 1998 0.78
117 HyperCKemia as the only sign of McArdle's disease in a child. J Child Neurol 2000 0.78
118 Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene. Neuromuscul Disord 2005 0.78
119 Hypertrophic cardiomyopathy and mtDNA depletion. Successful treatment with heart transplantation. Neuromuscul Disord 2002 0.78
120 Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases. Neuromuscul Disord 2012 0.78
121 Severe abnormalities of the pons in two infants with goldenhar syndrome. Neuropediatrics 2004 0.78
122 Giant axonal neuropathy: report on a case with focal fiber loss. Acta Neuropathol 1992 0.78
123 Abnormalities of somatosensory and motor evoked potentials in adrenomyeloneuropathy: comparison with magnetic resonance imaging and clinical findings. Muscle Nerve 1997 0.78
124 Reduced serum inhibition of platelet-activating factor activity in preeclampsia. Am J Obstet Gynecol 1989 0.78
125 hGFRalpha-4: a new member of the GDNF receptor family and a candidate for NBIA. Pediatr Neurol 2001 0.77
126 New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency. Ann Neurol 1997 0.77
127 A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children. Hum Mutat 2000 0.77
128 Oxidative abnormalities in Menkes disease. J Inherit Metab Dis 2000 0.77
129 Late onset scleroatonic familial myopathy (Ullrich disease): a study of two sibs. Am J Med Genet 1988 0.77
130 Ataxia, deafness, leukodystrophy: inherited disorder of the white matter in three related patients. Neurology 2000 0.77
131 Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit. Neurology 2003 0.77
132 Pierre Robin syndrome and Wilms tumor: an unusual association. Med Pediatr Oncol 2000 0.76
133 Restriction in T-cell receptor repertoire in a patient affected by trichothiodystrophy and CD4+ lymphopenia. Scand J Immunol 2002 0.76
134 Myotonic dystrophy and chromosome translocation segregating in the same family. J Neurogenet 1987 0.76
135 Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR. Neurogenetics 2012 0.76
136 Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome. Am J Med Genet 2000 0.76
137 A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathy. Hum Hered 1999 0.76
138 Autosomal recessive hypermyelinating neuropathy. Acta Neuropathol 1994 0.76
139 Two novel missense mutations causing adrenoleukodystrophy in Italian patients. Mol Cell Probes 1999 0.76
140 Presymptomatic diagnosis of SMA III by genotype analysis. Am J Med Genet 1993 0.75
141 Respiratory chain defects in hereditary spastic paraplegias. Neuromuscul Disord 2001 0.75
142 Biopsy diagnosis of a case of adult onset orthochromatic leukodystrophy. Clinical and brain biopsy findings. Ital J Neurol Sci 1992 0.75
143 Maternally inherited cardiomyopathy: a new phenotype associated with the A to G AT nt.3243 of mitochondrial DNA (MELAS mutation). Muscle Nerve 1997 0.75
144 Restrictive cardiomyopathy due to desmin accumulation in a family with evidence of autosomal dominant inheritance. G Ital Cardiol 1997 0.75
145 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
146 Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients. J Inherit Metab Dis 1996 0.75
147 [Neonatal myoclonic encephalopathy. Contribution of a case with suspected dysmetabolic etiology]. Riv Neurobiol 1983 0.75
148 [Neuroendocrine changes in adrenoleukodystrophy (ALD). Their relationship with new therapeutic strategies]. Minerva Pediatr 1991 0.75
149 [Recurrent intracranial hemorrhage in a nursing infant with congenital factor VII deficiency. Survival and follow-up after neurosurgical intervention]. Minerva Pediatr 1987 0.75
150 [Multidisciplinary approach]. Minerva Pediatr 2009 0.75
151 [Diagnosis of mitochondrial cardiomyopathies: the need for a multidisciplinary approach]. G Ital Cardiol 1999 0.75
152 Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family. J Neurol Sci 1993 0.75
153 [Epileptic psychoses]. Riv Neurol 1981 0.75
154 OXPHOS and mtDNA alterations in a family with spastic paraparesis. Acta Neurol Scand 2000 0.75
155 [Diet therapy with erucic acid in patients with X-linked adrenoleukodystrophy]. Minerva Pediatr 1991 0.75
156 [Laterality of the electrocephalographic changes induced by electroshock]. Boll Soc Ital Biol Sper 1978 0.75
157 Carnitine in lactic acidosis. J Pediatr 1988 0.75
158 Benign congenital hypotonia with uniform type 1 fibers and aspecific ultrastructural changes in the muscle: a case with esophagus involvement. Ital J Neurol Sci 1985 0.75
159 A new therapeutic approach for X-linked adrenoleukodystrophy. Eur J Pediatr 1990 0.75
160 Hereditary metabolic cardiomyopathies. Adv Pediatr 1994 0.75
161 Remission in dihydroxyphenylalanine-responsive dystonia. Mov Disord 1995 0.75
162 Presymptomatic diagnosis of spinal muscular atrophy (SMA) III confirmed by deletion analysis of the survival motor neuron gene. Am J Med Genet 1995 0.75
163 Analysis of mutagenic activity in human urine after concentration on different resins and high-performance liquid chromatography. Toxicol Lett 1989 0.75