Published in Rev Electroencephalogr Neurophysiol Clin on April 01, 1984
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. Am J Hum Genet (2004) 2.62
Update on transcobalamin deficiency: clinical presentation, treatment and outcome. J Inherit Metab Dis (2013) 1.47
doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH). Hum Mol Genet (1998) 1.44
Absence of dystrophin and utrophin in a boy with severe muscular dystrophy. N Engl J Med (1994) 1.39
Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? Brain (2000) 1.36
Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome. Am J Hum Genet (2001) 1.19
Treatment of DYT1-generalised dystonia by stimulation of the internal globus pallidus. Lancet (2000) 1.19
Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q. Hum Mol Genet (1997) 1.13
Encephalopathy with calcifications of the basal ganglia in children. A reappraisal of Fahr's syndrome with respect to 14 new cases. Neuropediatrics (1989) 1.07
Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity. Ann Neurol (1997) 1.03
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation. Neurology (2000) 0.95
N-acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophy. J Inherit Metab Dis (1988) 0.95
Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. Hum Genet (2000) 0.94
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. J Med Genet (2005) 0.94
[Parry-Romberg's syndrome and epilepsy]. Rev Neurol (Paris) (2005) 0.93
[Idiopathic pericerebral swelling (external hydrocephalus) of infants]. Ann Pediatr (Paris) (1992) 0.92
Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci. Neuropediatrics (2004) 0.91
Interhemispheric facilitation and inhibition studied in man with double magnetic stimulation. Electroencephalogr Clin Neurophysiol (1996) 0.90
Congenital muscular dystrophy and cerebral CT scan anomalies. Results of a collaborative study of the Société de Neurologie Infantile. J Neurol Sci (1986) 0.89
Treatment with vigabatrin may mimic alpha-aminoadipic aciduria. Epilepsia (1996) 0.89
Hemimegalencephaly and neurofibromatosis. Neuropediatrics (1990) 0.89
A standardized method for the evaluation of respiratory muscle endurance in patients with Duchenne muscular dystrophy. Neuromuscul Disord (2001) 0.88
Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test. Hum Genet (1998) 0.87
Herpesvirus 6 infection in young children. N Engl J Med (1992) 0.87
Multicore disease and Marfan's syndrome: a case report. Eur Neurol (1985) 0.87
Congenital muscular dystrophy and rigid spine syndrome. Neuropediatrics (1983) 0.87
Neurological presentation of three patients with 22q11 deletion (CATCH 22 syndrome). Brain Dev (2001) 0.86
[Treatment of early-onset generalized dystonia by chronic bilateral stimulation of the internal globus pallidus. Apropos of a case]. Neurochirurgie (1999) 0.86
MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies. Clin Genet (2012) 0.85
Total endovascular occlusion of a giant direct arteriovenous fistula in the posterior fossa in a case of Rendu-Osler-Weber disease. Childs Nerv Syst (1996) 0.84
Congenital muscular dystrophy with cerebral white matter spongiosis. Brain Dev (1984) 0.83
Motor cortical dysfunction disclosed by single and double magnetic stimulation in patients with fibromyalgia. Clin Neurophysiol (2000) 0.83
Salla disease in one non-Finnish patient. Eur J Pediatr (1986) 0.82
Is hyperprolinemia type I actually a benign trait? Report of a case with severe neurologic involvement and vigabatrin intolerance. J Child Neurol (2001) 0.82
Treatment of early-onset dystonia: update and a new perspective. Childs Nerv Syst (2000) 0.81
Infantile bilateral striatal necrosis following measles. Brain Dev (2000) 0.81
Focal seizures versus focal epilepsy in infancy: a challenging distinction. Epileptic Disord (1999) 0.81
Motor evoked potentials (MEPs): evaluation of the different types of responses in amyotrophic lateral sclerosis and primary lateral sclerosis. Electromyogr Clin Neurophysiol (1996) 0.81
Vigabatrin-associated retinal cone system dysfunction. Neurology (1998) 0.81
Congenital muscular dystrophy of a non-Fukuyama type. Brain Dev (1988) 0.80
Myosin light chains in normal and pathological human skeletal muscles. Muscle Nerve (1983) 0.80
Mosaic expression of two dystrophins in a boy with progressive muscular dystrophy. Muscle Nerve (1998) 0.80
[Congenital neuropathy caused by hypomyelination]. Arch Fr Pediatr (1983) 0.80
Congenital non-progressive encephalopathy and deafness with intermittent episodes of coma and hyperkynureninuria. J Inherit Metab Dis (1996) 0.78
[Use of diazepam in the preventive home treatment of recurrent febrile convulsions]. Arch Fr Pediatr (1983) 0.78
No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia. J Med Genet (2001) 0.78
Retinal degeneration associated with congenital transcobalamin II deficiency. Arch Ophthalmol (2001) 0.77
Dominantly inherited hypoplasia of the vermis. Neuropediatrics (1992) 0.77
Becker muscular dystrophy: demonstration of the carrier status of a female by immunoblotting and immunostaining. Neuromuscul Disord (1992) 0.77
[Encephalopathy caused by repeated voluntary inhalation of paradichlorobenzene]. Presse Med (1992) 0.77
Perturbation in dystrophin-associated glycoprotein complex in a boy with Becker muscular dystrophy. Brain Dev (2000) 0.77
[Genetic syndromes that mimic congenital infections: report of 2 cases]. Arch Pediatr (2011) 0.76
Short latency facilitation between pairs of threshold magnetic stimuli studied in amyotrophic lateral sclerosis. Neurophysiol Clin (2001) 0.76
[Acute myelitis of an unusual cause in a child: the lymphocytic choriomeningitis virus]. Arch Pediatr (2001) 0.76
[The varied etiologies of childhood-onset dystonia]. Rev Neurol (Paris) (2002) 0.76
Myasthenia gravis and recurrent Guillain-Barré syndrome. Neurology (1991) 0.76
Vertebro-basilar arterial occlusion in childhood--report of a case and review of the literature. Brain Dev (1983) 0.76
[Encephalopathy due to repeated voluntary inhalation of paradichlorobenzene]. J Toxicol Clin Exp (1993) 0.76
Normal latency values of early cortical somatosensory evoked potentials in children. Electroencephalogr Clin Neurophysiol (1987) 0.76
[Value of skin fibroblasts in culture for the diagnosis of mitochondrial cell dysfunction. Apropos of 5 cases with cytochrome c oxidase deficiency]. Pediatrie (1993) 0.76
Unexpected neurological sequelae following propofol anesthesia in infants: Three case reports. Brain Dev (2010) 0.75
[Genetics contribution to the understanding of autism]. Arch Pediatr (2005) 0.75
[Somatosensory evoked potentials and Hoffmann reflex in acute spinal cord lesions; physiopathological and prognostic aspects]. Electroencephalogr Clin Neurophysiol (1977) 0.75
[Excitability cycle of the Hoffmann reflex of the soleus in a constant pool of motoneurons. Changes in man as a function of age]. C R Seances Soc Biol Fil (1980) 0.75
Motor conduction velocity and the Hoffman reflex in diabetes. Rev Electroencephalogr Neurophysiol Clin (1978) 0.75
[Pediatric use of intravenous immunoglobulins in immunomodulation. Apropos of 34 cases. Current data]. Ann Pediatr (Paris) (1988) 0.75
[Observations on the etiology and clinico-therapeutic aspects of salmonellosis in children]. Arch Roum Pathol Exp Microbiol (1971) 0.75
[Radicular evoked potential. Peroperative recording in lumbar disk hernias]. Neurochirurgie (1988) 0.75
[Specific treatment of primary hyperlipoproteinemia in diabetes mellitus]. Med Interne (1979) 0.75
[Ectopic intraspinal extradural anaplastic ependymoma in an infant]. Arch Pediatr (1997) 0.75
[Immunizing value in humans of purified and adsorbed tetanus anatoxin (PATA) as compared with natural tetanus anatoxin]. Arch Roum Pathol Exp Microbiol (1965) 0.75
[Efficacy of tetanus vaccination with ATPA. Effect of increased intervals between inoculations with a double dose of antigen]. Arch Roum Pathol Exp Microbiol (1968) 0.75
[Movement disorders in childhood: classification and genetic update]. Arch Pediatr (2003) 0.75
[Movement disorders in childhood: therapeutic update]. Arch Pediatr (2004) 0.75
[Rett syndrome. A report of fifteen cases]. Ann Pediatr (Paris) (1989) 0.75
[Hepato-diaphragmatic interposition of the colon (Chilaïditi syndrome). Apropos of a case in 3-year-old child]. Ann Pediatr (Paris) (1988) 0.75
[Myotonic seizures; the action of curare or related compounds on myotonia (author's transl)]. Rev Electroencephalogr Neurophysiol Clin (1979) 0.75
[Schizencephaly and upper limb malformation]. Arch Pediatr (1996) 0.75
Dystrophin superfamily complexes are different in muscle and the nervous system. J Peripher Nerv Syst (1997) 0.75
[Simultaneous studies of somatosensory cerebral evoked potential and Hoffman's reflex after recent spinal cord lesions]. Rev Electroencephalogr Neurophysiol Clin (1976) 0.75
[Benign infantile convulsions. French collaborative study]. Arch Pediatr (1999) 0.75
[Lumbar cord potentials evoked by stimulation of the nerves of the lower limb in man]. Rev Electroencephalogr Neurophysiol Clin (1985) 0.75
Somatosensory evoked potentials to posterior tibial nerve stimulation in children. Brain Dev (1986) 0.75
[Value of electromyography in lesions of the peripheral nerves]. Neurochirurgie (1982) 0.75
[Frequency, clinical correlations and electrocardiographic characteristics of left anterior hemiblock]. Rev Roum Med Intern (1972) 0.75
Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies. Hum Genet (1991) 0.75
[Value of preoperative investigations in the so-called "cervical myelopathy" (author's transl)]. Neurochirurgie (1979) 0.75
McArdle's disease in childhood: report of a new case. Eur J Paediatr Neurol (1998) 0.75
[Migraine in children]. Pediatrie (1991) 0.75
[Nemaline myopathy. General review apropos of 3 cases]. Ann Pathol (1987) 0.75
[Tolosa-Hunt painful ophthalmoplegia. Apropos of a case in a 10-year-old girl]. Arch Fr Pediatr (1987) 0.75
[Evoked somatosensory cerebral potentials from the lower limb in newborn infants and infants]. Rev Electroencephalogr Neurophysiol Clin (1982) 0.75
Benign infantile familial convulsions are not an allelic form of the benign familial neonatal convulsions gene. Ann Neurol (1994) 0.75
[Action of bacterial toxins on tissue cultures. IV. Cytotoxic action of the soluble thermolabile endotoxins (neurotoxins) present in the urine of patients infected with gram negative bacteria]. Arch Roum Pathol Exp Microbiol (1964) 0.75
[Prognostic significance of left axial deviation and associated ST-T changes]. Rev Roum Med (1974) 0.75
[Vascular complication disclosing lung cancer in children]. Rev Neurol (Paris) (1997) 0.75
[Maturation of cerebral somatosensory evoked potentials]. Rev Electroencephalogr Neurophysiol Clin (1985) 0.75
[Treatment of dystonia syndrome by chronic electric stimulation of the internal globus pallidus]. Arch Pediatr (2002) 0.75
[Study of the hyperlipoproteinemias in diabetes mellitus]. Journ Annu Diabetol Hotel Dieu (1977) 0.75
[Rod myopathies. Anatomo-clinical forms. Apropos of 2 cases]. Ann Pediatr (Paris) (1986) 0.75