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Article
Dopamine denervation in the functional territories of the striatum: a new MR and atlas-based 123I-FP-CIT SPECT quantification method
Current quantification methods of 123I-FP-CIT SPECT rely on anatomical parcellation of the striatum. We propose here to implement a new method based on MRI segmentation and functional atlas of the basal ganglia (...
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Article
Open AccessComparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein
Whether the recessive ataxias, Ataxia with oculomotor apraxia type 1 (AOA1) and 2 (AOA2) and Ataxia telangiectasia (AT), can be distinguished by video-oculography and alpha-fetoprotein level remains unknown. W...
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Article
Management of the Detrusor Sphincter Dyssynergia
Detrusor sphincter dyssynergia (DSD) is a disturbance of the normal synergistic coordination between bladder contraction and external urethral sphincter muscles relaxation during voiding. In patients with neur...
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Article
Does clinical rapid eye movement behavior disorder predict worse outcomes in Parkinson’s disease?
Our purpose of this study was to investigate whether clinical rapid eye movement sleep behavior disorder (RBD) is indicative of more widespread degenerative changes in Parkinson’s disease (PD), using a longitu...
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Article
Movement disorders and inborn errors of metabolism in adults: A diagnostic approach
Inborn errors of metabolism (IEMs) may present in adolescence or adulthood with various movement disorders including parkinsonism, dystonia, chorea, tics or myoclonus. Main diseases causing movement disorders ...
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Article
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?
Early onset torsion dystonia are rare movement disorders. Molecular defect is known for only a subgroup, consisting of a unique and recurrent mutation in the TOR1A gene. We undertook a nationwide census of French...
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Article
Effects of pulse width variations in pallidal stimulation for primary generalized dystonia
Various pulse widths (from 60–450 μs) have been used for bilateral pallidal stimulation in generalized dystonia but, to date, no comparison of this parameter’s effects is available.
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Article
Randomised controlled trial of essential fatty acid supplementation in phenylketonuria
The long-chain polyunsaturated fatty acids (LC-PUFA) status of children with PKU is often compromised. LC-PUFA, which are important fatty acids in the development of the CNS, can be synthesised endogenously fr...
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Article
Neonatal screening for cystic fibrosis: France rises to the challenge
Summary: This paper describes the adjustments to the French neonatal screening programme required by the introduction of systematic screening for cystic fibrosis (CF), taking into account both the legal and statu...
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Article
Adult presentation of MCAD deficiency revealed by coma and severe arrythmias.
We report the case of a 33-year-old man who presented with headaches and vomiting. Soon after admission he became drowsy and agitated, developed ventricular tachycardia and his neurological state worsened (Gla...
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Article
Pulmonary evolution of cystic fibrosis patients colonized by Pseudomonas aeruginosa and/or Burkholderia cepacia
We analysed the pulmonary evolution (radiological scores and pulmonary function) of 81 cystic fibrosis (CF) patients colonized by Pseudomonas aeruginosa (PA), by Burkholderia cepacia (BC) or by both these bacteri...
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Chapter
Electrophysiological investigations of peripheral and central changes in hemifacial spasm
A short review of the literature and of some personal data that deals with the electrophysiological observations that can be made in patients with hemifacial spasm and that allow one to discuss the two hypothe...
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Article
Fourth meeting of the European Neurological Society 25–29 June 1994 Barcelona, Spain
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Chapter and Conference Paper
The auditory startle response in progressive supranuclear palsy
The EMG characteristics of the normal auditory startle response in man are compatible with an origin in the pontine reticular formation and with conduction down the spinal cord in a slowly conducting, possibly...
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Chapter and Conference Paper
Electrophysiological Evidence for Central Hyperexcitability of Facial Motoneurons in Hemifacial Spasm
With the use of qualitative and quantitative electrophysiological methods, the aim of the present study was to substantiate the idea that a central hyperexcitability exists in the facial motoneurons in hemifac...
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Article
Intellectual and school performances in early-treated classical PKU patients
We did not observe any loss of mean IQ scores measured at 11 when PKU diet was stopped as early as 5 years of age compared to 8 years. Nevertheless, 44% of these children presented learning disabilities and re...
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Article
Traitement par somatostatine ďune poussée aiguë sévére de maladie de crohn chez deux enfants: Aspects coloscopiques
Les auteurs ont utilisé la somatostatine chez deux enfants atteints de maladie de Crohn iléocolique sévére, cortico-résistante dans un cas. La somatostatine est perfusée de façon continue, avec un débit de 5 (...
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Article
Neonatal lactic acidosis with pyruvate carboxylase inactivity
Biochemical findings in a case of acute onset lactic acidosis due to pyruvate carboxylase deficiency are presented. Oxaloacetate deficiency arising from the inactivity of pyruvate carboxylase produces abnormal...
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Article
Analyse de livres
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Article
Isoelectrofocusing of erythrocyte galactose 1 phospho uridyl transferase in a family with both galactosemia and duarte variants
A family with the presence of the genes for both galactosemia and the Duarte variant is described. Galactose 1 phospho uridyl transferase has been studied not only by electrophoresis on starch gel, but also by...
