Published in Clin Auton Res on February 01, 1993
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
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Science (1992) 3.93
Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene. N Engl J Med (1992) 3.41
Truncated forms of the human prion protein in normal brain and in prion diseases. J Biol Chem (1995) 3.20
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
A novel phenotype in familial Creutzfeldt-Jakob disease: prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein. Ann Neurol (1999) 1.98
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
Typing prion isoforms. Nature (1997) 1.82
Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei. N Engl J Med (1986) 1.73
Testing models for genetic determination in migraine. Cephalalgia (1993) 1.67
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
Sensitivity of 14-3-3 protein test varies in subtypes of sporadic Creutzfeldt-Jakob disease. Neurology (2004) 1.49
Muscle and skin sympathetic activities in Ross syndrome. Clin Neurophysiol (2012) 1.48
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
Inherited Creutzfeldt-Jakob disease in a Dutch patient with a novel five octapeptide repeat insertion and unusual cerebellar morphology. J Neurol Neurosurg Psychiatry (2009) 1.43
Striatal [123I] FP-CIT SPECT demonstrates dopaminergic deficit in a sporadic case of Creutzfeldt-Jakob disease. Acta Neurol Scand (2008) 1.43
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
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
Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype. Neurology (1997) 1.34
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
Allelic origin of the abnormal prion protein isoform in familial prion diseases. Nat Med (1997) 1.23
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
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
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: clinical, pathological and molecular features. Brain Pathol (1995) 1.18
Underdiagnosis and undertreatment of migraine in Italy: a survey of patients attending for the first time 10 headache centres. Cephalalgia (2009) 1.18
Creutzfeldt-Jakob disease in unusually young patients who consumed venison. Arch Neurol (2001) 1.18
Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene. Neurology (2005) 1.17
Effect of the D178N mutation and the codon 129 polymorphism on the metabolism of the prion protein. J Biol Chem (1996) 1.16
Abnormal diffusion-weighted magnetic resonance images in Creutzfeldt-Jakob disease. Arch Neurol (1999) 1.15
Tau gene mutation in familial progressive subcortical gliosis. Nat Med (1999) 1.13
Familial prion disease with a novel 144-bp insertion in the prion protein gene in a Basque family. Neurology (1997) 1.11
MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells. Biochem Biophys Res Commun (1995) 1.11
Effect of the E200K mutation on prion protein metabolism. Comparative study of a cell model and human brain. Am J Pathol (2000) 1.08
How a neuropsychiatric brain bank should be run: a consensus paper of Brainnet Europe II. J Neural Transm (Vienna) (2006) 1.07
Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy. FEBS Lett (1994) 1.05
Undiagnosed sleep-disordered breathing among male nondippers with essential hypertension. J Hypertens (1997) 1.02
A genetic association study of dopamine metabolism-related genes and chronic headache with drug abuse. Eur J Neurol (2006) 1.02
Prevalence and incidence of cluster headache in the Republic of San Marino. Neurology (2002) 1.01
Lessons from 8 years' experience of hypothalamic stimulation in cluster headache. Cephalalgia (2008) 1.01
Prion encephalopathy with insertion of octapeptide repeats: the number of repeats determines the type of cerebellar deposits. Neuropathol Appl Neurobiol (1998) 1.00
X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant. Am J Med Genet (1996) 1.00
Endogenous benzodiazepine receptor ligands in idiopathic recurring stupor. Lancet (1992) 1.00
31P-magnetic resonance spectroscopy in migraine without aura. Neurology (1994) 0.99
Molecular pathology of fatal familial insomnia. Brain Pathol (1998) 0.98
REM sleep behaviour disorder differentiates pure autonomic failure from multiple system atrophy with autonomic failure. J Neurol Neurosurg Psychiatry (1998) 0.98
Defective brain and muscle energy metabolism shown by in vivo 31P magnetic resonance spectroscopy in nonaffected carriers of 11778 mtDNA mutation. Neurology (1995) 0.96
Early pathologic and biochemical changes in Creutzfeldt-Jakob disease: study of brain biopsies. Neurology (1996) 0.96
Standing worsens cognitive functions in patients with neurogenic orthostatic hypotension. Neurol Sci (2011) 0.95
Diurnal fluctuations in free and total steady-state plasma levels of carbamazepine and correlation with intermittent side effects. Epilepsia (1984) 0.95
Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families. Mov Disord (2001) 0.95
Vasovagal syncope interrupting sleep? Heart (2004) 0.94
Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry (2002) 0.94
Neuroethological approach to frontolimbic epileptic seizures and parasomnias: The same central pattern generators for the same behaviours. Rev Neurol (Paris) (2009) 0.94
Fatal familial insomnia: behavioral and cognitive features. Neurology (1996) 0.93
Cluster headache in the Republic of San Marino. Cephalalgia (1986) 0.93
Headache and anxiety-depressive disorder comorbidity: the HADAS study. Neurol Sci (2007) 0.93
Nocturnal body core temperature falls in Parkinson's disease but not in Multiple-System Atrophy. Mov Disord (2001) 0.93
Autonomic innervation in multiple system atrophy and pure autonomic failure. J Neurol Neurosurg Psychiatry (2010) 0.93
Sleep-wake cycle abnormalities in fatal familial insomnia. Evidence of the role of the thalamus in sleep regulation. Electroencephalogr Clin Neurophysiol (1995) 0.92
Neuronal apoptosis in fatal familial insomnia. Brain Pathol (1998) 0.92
Divergent clinical and neuropathological phenotype in a Gerstmann-Sträussler-Scheinker P102L family. Acta Neurol Scand (2012) 0.92
A case of cluster headache associated with mitochondrial DNA deletions. Muscle Nerve (1998) 0.92
Creutzfeldt-Jakob disease after liver transplantation. Ann Neurol (1995) 0.92
Effect of deep brain stimulation of the posterior hypothalamic area on the cardiovascular system in chronic cluster headache patients. Eur J Neurol (2007) 0.91
Loss of temporal retinal nerve fibers in Parkinson disease: a mitochondrial pattern? Eur J Neurol (2012) 0.91
Abnormal platelet mitochondrial function in patients affected by migraine with and without aura. Cephalalgia (1994) 0.91
Chronic pain-autonomic interactions. Neurol Sci (2003) 0.91
Response to a standard oral levodopa test in parkinsonian patients with and without motor fluctuations. Clin Neuropharmacol (1990) 0.90
Does headache represent a clinical marker in early diagnosis of cerebral venous thrombosis? A prospective multicentric study. Neurol Sci (2004) 0.90
What are the causes of excessive daytime sleepiness in patients with sleep-disordered breathing? Eur Respir J (2008) 0.90
Spectral analysis of heart rate variability reveals an enhanced sympathetic activity in narcolepsy with cataplexy. Clin Neurophysiol (2010) 0.90
Application of ICHD-II and revised diagnostic criteria to patients with chronic daily headache. Neurol Sci (2007) 0.89