Published in Brain on September 01, 2000
Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies. Prog Retin Eye Res (2010) 3.58
Inherited mitochondrial optic neuropathies. J Med Genet (2008) 2.50
Leber hereditary optic neuropathy. J Med Genet (2002) 2.33
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. Am J Hum Genet (2006) 1.95
The role of mitochondrial genome in essential hypertension in a Chinese Han population. Eur J Hum Genet (2009) 0.95
mtDNA nt13708A variant increases the risk of multiple sclerosis. PLoS One (2008) 0.90
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report. BMC Neurol (2011) 0.86
The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype. J Med Genet (2006) 0.83
The mitochondrial complex I activity is reduced in cells with impaired cystic fibrosis transmembrane conductance regulator (CFTR) function. PLoS One (2012) 0.82
Secondary post-geniculate involvement in Leber's hereditary optic neuropathy. PLoS One (2012) 0.80
Mitochondrial complex III deficiency in a case of HCV related noninflammatory myopathy. J Neurol (2007) 0.76
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science (2009) 13.45
Evidence for the conformation of the pathologic isoform of the prion protein enciphering and propagating prion diversity. Science (1996) 6.71
Multi-system neurological disease is common in patients with OPA1 mutations. Brain (2010) 5.37
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Science (1992) 3.93
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet (1997) 3.48
Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene. N Engl J Med (1992) 3.41
Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology (2005) 2.69
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. Neurology (2007) 2.51
Production and detection of cold antihydrogen atoms. Nature (2002) 2.31
Morvan's syndrome: peripheral and central nervous system and cardiac involvement with antibodies to voltage-gated potassium channels. Brain (2001) 2.14
Idiopathic recurring stupor. Neurology (1994) 2.04
Nocturnal frontal lobe epilepsy. A clinical and polygraphic overview of 100 consecutive cases. Brain (1999) 1.96
Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve. Trans Am Ophthalmol Soc (2000) 1.93
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism. Proc Natl Acad Sci U S A (1994) 1.85
Ictal bradycardia in partial epileptic seizures: Autonomic investigation in three cases and literature review. Brain (2001) 1.84
Polyamines and nucleic acids during development of the chick embryo. Biochem J (1965) 1.79
Reduced oxidative muscle metabolism in chronic fatigue syndrome. Muscle Nerve (1996) 1.73
Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei. N Engl J Med (1986) 1.73
Sex hormones influence on the immune system: basic and clinical aspects in autoimmunity. Lupus (2004) 1.73
Correlation between retinal nerve fibre layer thickness and optic nerve head size: an optical coherence tomography study. Br J Ophthalmol (2005) 1.71
Testing models for genetic determination in migraine. Cephalalgia (1993) 1.67
Palmaris brevis spasm: an occupational syndrome. Neurology (2003) 1.61
Pharmacodynamic modeling of oral levodopa: clinical application in Parkinson's disease. Neurology (1993) 1.58
Clinical features of fatal familial insomnia: phenotypic variability in relation to a polymorphism at codon 129 of the prion protein gene. Brain Pathol (1998) 1.56
Spontaneous low cerebrospinal pressure: a mini review. Neurol Sci (2004) 1.53
Ropinirole in the treatment of restless legs syndrome: results from the TREAT RLS 1 study, a 12 week, randomised, placebo controlled study in 10 European countries. J Neurol Neurosurg Psychiatry (2004) 1.52
Magnetic resonance imaging, magnetisation transfer imaging, and diffusion weighted imaging correlates of optic nerve, brain, and cervical cord damage in Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry (2001) 1.51
Pontine lesions in idiopathic narcolepsy. Neurology (1996) 1.48
Muscle and skin sympathetic activities in Ross syndrome. Clin Neurophysiol (2012) 1.48
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome. Neurology (2008) 1.45
Sudden falls due to seizure-induced cardiac asystole in drug-resistant focal epilepsy. Neurology (2008) 1.45
Pathologic correlates of diffusion MRI changes in Creutzfeldt-Jakob disease. Neurology (2009) 1.44
REM sleep behavior disorders in multiple system atrophy. Neurology (1997) 1.42
Central and cardiovascular responses to emotional stimuli are normal in non-phobic subjects with Reflex Syncope. Clin Neurophysiol (2008) 1.41
Complicated migraine studied by phosphorus magnetic resonance spectroscopy. Cephalalgia (1990) 1.41
L-thymidine is phosphorylated by herpes simplex virus type 1 thymidine kinase and inhibits viral growth. J Med Chem (1992) 1.41
Endozepine stupor in children. Cephalalgia (1997) 1.40
Lingual neuropathy after a dental procedure. Muscle Nerve (1996) 1.39
Chronic progressive steroid responsive axonal polyneuropathy: a CIDP vaariant or a primary axonal disorder? Muscle Nerve (1996) 1.39
Clonazepam and vibration in restless legs syndrome. Acta Neurol Scand (1984) 1.38
A levodopa kinetic-dynamic study of the rate of progression in Parkinson's disease. Neurology (1998) 1.38
EFNS guidelines on the diagnosis and management of orthostatic hypotension. Eur J Neurol (2006) 1.37
Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy. Ann Neurol (1999) 1.36
Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype. Neurology (1997) 1.34
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy. Ann Neurol (2000) 1.32
Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and Endonuclease G. Apoptosis (2005) 1.29
Fatal familial insomnia: clinical and pathologic study of five new cases. Neurology (1992) 1.29
Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178. Neurology (1992) 1.29
Regional distribution of protease-resistant prion protein in fatal familial insomnia. Ann Neurol (1995) 1.26
Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy: a clinical and 31P-MRS study. J Neurol Sci (1997) 1.24
Migraine as a defect of brain oxidative metabolism: a hypothesis. J Neurol (1989) 1.22
Recommendations for the use of cardiovascular tests in diagnosing diabetic autonomic neuropathy. Nutr Metab Cardiovasc Dis (2011) 1.21
Simultaneous in vivo measurements of HbO2 saturation and PCr kinetics after exercise in normal humans. J Appl Physiol (1985) (1994) 1.20
DNA synthesis and interaction between controlled feeding schedules and partial hepatectomy in rats. Science (1971) 1.20
Cost of healthcare for patients with migraine in five European countries: results from the International Burden of Migraine Study (IBMS). J Headache Pain (2012) 1.19
Underdiagnosis and undertreatment of migraine in Italy: a survey of patients attending for the first time 10 headache centres. Cephalalgia (2009) 1.18
Absolute metabolite quantification by in vivo NMR spectroscopy: II. A multicentre trial of protocols for in vivo localised proton studies of human brain. Magn Reson Imaging (1998) 1.18
Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants. Neurology (2004) 1.17
Polyamines and nucleic acid metabolism in chick embryo. Incorporation of labelled precursors into nucleic acids of subcellular fractions and polyribosomal patterns. Biochem J (1968) 1.17
Changes in the patterns of synthesis of ribonucleic acid species in immature rat uterus in response to oestrdiol-17 beta. Biochem J (1969) 1.16
Stiff-man syndrome associated with nocturnal myoclonus and epilepsy. J Neurol Neurosurg Psychiatry (1978) 1.16
In vivo assessment of mitochondrial functionality in human gastrocnemius muscle by 31P MRS. The role of pH in the evaluation of phosphocreatine and inorganic phosphate recoveries from exercise. NMR Biomed (1993) 1.14
The role of mitochondria in health, ageing, and diseases affecting vision. Br J Ophthalmol (2006) 1.11
Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus. Neurology (2008) 1.11
MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells. Biochem Biophys Res Commun (1995) 1.11
Leber's Hereditary Optic Neuropathy (LHON) with 14484/ND6 mutation in a North African patient. J Neurol Sci (1998) 1.10
Leber's hereditary optic neuropathy: genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family. Neurology (1991) 1.09
Increased prevalence of nocturnal smoking in restless legs syndrome (RLS). Sleep Med (2010) 1.09
A pilot double-blind placebo-controlled trial of low-dose pramipexole in sleep-related eating disorder. Eur J Neurol (2005) 1.08
Diffusion tensor MRI changes in cerebellar structures of patients with familial essential tremor. Neurology (2010) 1.08
Epileptic nocturnal wanderings. Sleep (1995) 1.07
Serum cytokines and steroidal hormones in polymyalgia rheumatica and elderly-onset rheumatoid arthritis. Ann Rheum Dis (2006) 1.06