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June 2016: Annals of Intensive Care
B Champigneulle, M Jamme, B Knebelmann, F Mochel, J P Mira
No abstract text is available yet for this article.
February 1, 2016: Acta Neurologica Belgica
S Sirrs, C Hollak, M Merkel, A Sechi, E Glamuzina, M C Janssen, R Lachmann, J Langendonk, M Scarpelli, T Ben Omran, F Mochel, M C Tchan
BACKGROUND: There are few centres which specialise in the care of adults with inborn errors of metabolism (IEM). To anticipate facilities and staffing needed at these centres, it is of interest to know the distribution of the different disorders. METHODS: A survey was distributed through the list-serve of the SSIEM Adult Metabolic Physicians group asking clinicians for number of patients with confirmed diagnoses, types of diagnoses and age at diagnosis. RESULTS: Twenty-four adult centres responded to our survey with information on 6,692 patients...
2016: JIMD Reports
F Mochel
INTRODUCTION: Inborn errors of metabolism (IEM) are traditionally defined by enzymatic deficiencies or defects in proteins involved in cellular metabolism. Historically discovered and characterized in children, a growing number of IEM are described in adults, and especially in the field of neurology. In daily practice, it is important to recognize emergency situations as well as neurodegenerative diseases for which a metabolic disease is likely, especially when therapeutic interventions are available...
June 2015: Revue Neurologique
D Gras, E Roze, S Caillet, A Méneret, D Doummar, T Billette de Villemeur, M Vidailhet, F Mochel
INTRODUCTION: Glucose transporter type 1 deficiency syndrome is caused by heterozygous, mostly de novo, mutations in the SLC2A1 gene encoding the glucose transporter GLUT1. Mutations in this gene limit brain glucose availability and lead to cerebral energy deficiency. STATE OF THE ART: The phenotype is characterized by the variable association of mental retardation, acquired microcephaly, complex motor disorders, and paroxysmal manifestations including seizures and non-epileptic paroxysmal episodes...
February 2014: Revue Neurologique
Amir Boukhris, Rebecca Schule, José L Loureiro, Charles Marques Lourenço, Emeline Mundwiller, Michael A Gonzalez, Perrine Charles, Julie Gauthier, Imen Rekik, Rafael F Acosta Lebrigio, Marion Gaussen, Fiorella Speziani, Andreas Ferbert, Imed Feki, Andrés Caballero-Oteyza, Alexandre Dionne-Laporte, Mohamed Amri, Anne Noreau, Sylvie Forlani, Vitor T Cruz, Fanny Mochel, Paula Coutinho, Patrick Dion, Chokri Mhiri, Ludger Schols, Jean Pouget, Frédéric Darios, Guy A Rouleau, Wilson Marques, Alexis Brice, Alexandra Durr, Stephan Zuchner, Giovanni Stevanin
Hereditary spastic paraplegias (HSPs) form a heterogeneous group of neurological disorders. A whole-genome linkage mapping effort was made with three HSP-affected families from Spain, Portugal, and Tunisia and it allowed us to reduce the SPG26 locus interval from 34 to 9 Mb. Subsequently, a targeted capture was made to sequence the entire exome of affected individuals from these three families, as well as from two additional autosomal-recessive HSP-affected families of German and Brazilian origins. Five homozygous truncating (n = 3) and missense (n = 2) mutations were identified in B4GALNT1...
July 11, 2013: American Journal of Human Genetics
F Lamari, F Mochel, F Sedel, J M Saudubray
We wish to delineate a novel, and rapidly expanding, group of inborn errors of metabolism with neurological/muscular presentations: the defects in phospholipids, sphingolipids and long chain fatty acids biosynthesis. At least 14 disorders have been described so far. Clinical presentations are diverse but can be divided into (1) diseases of the central nervous system; (2) peripheral neuropathies; and (3) muscular/cardiac presentations. (1) Leukodystrophy and/or iron deposits in basal ganglia is a common feature of phospholipase A2 deficiency, fatty acid hydroxylase deficiency, and pantothenate kinase-associated neurodegeneration...
May 2013: Journal of Inherited Metabolic Disease
M Traoré, T Coulibaly, K G Meilleur, A La Pean, M Sangaré, G Landouré, F Mochel, M Karambé, C O Guinto, K H Fischbeck
BACKGROUND: Autosomal dominant cerebellar ataxia, currently denominated spinocerebellar ataxia (SCAs), represents a heterogeneous group of neurodegenerative disorders affecting the cerebellum and its connections. We describe the clinical and molecular findings in 16 patients originating from Malian families, who suffer from progressive cerebellar ataxia syndrome. METHODS AND RESULTS: Molecular analysis allows genetic profiles of SCA to be distinguished. In seven patients, SCA type 2 (CAG) mutation was expanded from 39 to 43 repeats...
October 2011: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
M Beekman, R P Hermann, A Möchel, F Juranyi, G S Nolas
Single-crystal x-ray diffraction from clathrate-II Na(x)Si(136) (x = 24) prepared by a new technique reveals the exceptionally large Na@Si(28) atomic displacement parameter (U(eq)) is strongly temperature dependent, and can be attributed to low-energy rattling modes associated with the Na guest. Inelastic neutron scattering (INS) spectra collected from Na(x)Si(136) powder specimens (x = 3, 23) confirm the presence of low-energy guest-derived phonon modes for Na@Si(28) and Na@Si(20). The lower energy Na@Si(28) rattler mode falls in the frequency range of the silicon host acoustic phonons, indicating the possibility for interaction with these phonons...
September 8, 2010: Journal of Physics. Condensed Matter: An Institute of Physics Journal
Udo F H Engelke, Fokje S M Zijlstra, Fanny Mochel, Vassili Valayannopoulos, Daniel Rabier, Leo A J Kluijtmans, András Perl, Nanda M Verhoeven-Duif, Pascale de Lonlay, Mirjam M C Wamelink, Cornelis Jakobs, Eva Morava, Ron A Wevers
BACKGROUND: Sedoheptulose, arabitol, ribitol, and erythritol have been identified as key diagnostic metabolites in TALDO deficiency. METHOD: Urine from 6 TALDO-deficient patients and TALDO-deficient knock-out mice were analyzed using ¹H-NMR spectroscopy and GC-mass spectrometry. RESULTS: Our data confirm the known metabolic characteristics in TALDO-deficient patients. The β-furanose form was the major sedoheptulose anomer in TALDO-deficient patients...
November 2010: Biochimica et Biophysica Acta
F Mochel, U F H Engelke, J Barritault, B Yang, N H McNeill, J N Thompson, A Vanderver, N I Wolf, M A Willemsen, F W Verheijen, F Seguin, R A Wevers, R Schiffmann
OBJECTIVE: To investigate body fluids of patients with undiagnosed leukodystrophies using in vitro (1)H-NMR spectroscopy (H-NMRS). METHODS: We conducted a cross-sectional study using high-resolution in vitro H-NMRS on CSF and urine samples. RESULTS: We found a significant increase of free sialic acid in CSF or urine in 6 of 41 patients presenting with hypomyelination of unknown etiology. Molecular genetic testing revealed pathogenic mutations in the SLC17A5 gene in all 6 patients...
January 26, 2010: Neurology
K G Meilleur, M Traoré, M Sangaré, A Britton, G Landouré, S Coulibaly, B Niaré, F Mochel, A La Pean, I Rafferty, C Watts, D Shriner, M T Littleton-Kearney, C Blackstone, A Singleton, K H Fischbeck
We identified a family in Mali with two sisters affected by spastic paraplegia. In addition to spasticity and weakness of the lower limbs, the patients had marked atrophy of the distal upper extremities. Homozygosity mapping using single nucleotide polymorphism arrays showed that the sisters shared a region of extended homozygosity at chromosome 19p13.11-q12 that was not shared by controls. These findings indicate a clinically and genetically distinct form of hereditary spastic paraplegia with amyotrophy, designated SPG43...
July 2010: Neurogenetics
Fanny Mochel, Bingzhi Yang, Julie Barritault, Jerry N Thompson, Udo F H Engelke, Nathan H McNeill, William S Benko, Christine R Kaneski, David R Adams, Maria Tsokos, Mones Abu-Asab, Marjan Huizing, Francois Seguin, Ron A Wevers, Jiahuan Ding, Frans W Verheijen, Raphael Schiffmann
We performed high-resolution in vitro proton nuclear magnetic resonance spectroscopy on cerebrospinal fluid and urine samples of 44 patients with leukodystrophies of unknown cause. Free sialic acid concentration was increased in cerebrospinal fluid of two siblings with mental retardation and mild hypomyelination. By contrast, urinary excretion of free sialic acid in urine was normal on repeated testing by two independent methods. Both patients were homozygous for the K136E mutation in SLC17A5, the gene responsible for the free sialic acid storage diseases...
June 2009: Annals of Neurology
Jin Hae Kim, Anna K Füzéry, Marco Tonelli, Dennis T Ta, William M Westler, Larry E Vickery, John L Markley
IscU is a scaffold protein that functions in iron-sulfur cluster assembly and transfer. Its critical importance has been recently underscored by the finding that a single intronic mutation in the human iscu gene is associated with a myopathy resulting from deficient succinate dehydrogenase and aconitase [Mochel, F., Knight, M. A., Tong, W. H., Hernandez, D., Ayyad, K., Taivassalo, T., Andersen, P. M., Singleton, A., Rouault, T. A., Fischbeck, K. H., and Haller, R. G. (2008) Am. J. Hum. Genet. 82, 652-660]. IscU functions through interactions with a chaperone protein HscA and a cochaperone protein HscB...
July 7, 2009: Biochemistry
Cyril Goizet, Amir Boukhris, Alexandra Durr, Christian Beetz, Jeremy Truchetto, Christelle Tesson, Maria Tsaousidou, Sylvie Forlani, Lucie Guyant-Maréchal, Bertrand Fontaine, João Guimarães, Bertrand Isidor, Olivier Chazouillères, Dominique Wendum, Djamel Grid, Françoise Chevy, Patrick F Chinnery, Paula Coutinho, Jean-Philippe Azulay, Imed Feki, Fanny Mochel, Claude Wolf, Chokri Mhiri, Andrew Crosby, Alexis Brice, Giovanni Stevanin
Thirty-four different loci for hereditary spastic paraplegias have been mapped, and 16 responsible genes have been identified. Autosomal recessive forms of spastic paraplegias usually have clinically complex phenotypes but the SPG5, SPG24 and SPG28 loci are considered to be associated with 'pure' forms of the disease. Very recently, five mutations in the CYP7B1 gene, encoding a cytochrome P450 oxysterol 7-alpha hydroxylase and expressed in brain and liver, have been found in SPG5 families. We analysed the coding region and exon-intron boundaries of the CYP7B1 gene by direct sequencing in a series of 82 unrelated autosomal recessive hereditary spastic paraplegia index patients, manifesting either a pure (n = 52) or a complex form (n = 30) of the disease, and in 90 unrelated index patients with sporadic pure hereditary spastic paraplegia...
June 2009: Brain: a Journal of Neurology
M Traoré, G Landouré, W Motley, M Sangaré, K Meilleur, S Coulibaly, S Traoré, B Niaré, F Mochel, A La Pean, A Vortmeyer, H Mani, K H Fischbeck
We studied a Malian family with parental consanguinity and two of eight siblings affected with late-childhood-onset progressive myoclonus epilepsy and cognitive decline, consistent with the diagnosis of Lafora disease. Genetic analysis showed a novel homozygous single-nucleotide variant in the NHLRC1 gene, c.560A>C, producing the missense change H187P. The changed amino acid is highly conserved, and the mutation impairs malin's ability to degrade laforin in vitro. Pathological evaluation showed manifestations of Lafora disease in the entire brain, with particularly severe involvement of the pallidum, thalamus, and cerebellum...
October 2009: Neurogenetics
F Mochel, F Sedel, A Vanderver, U F H Engelke, J Barritault, B Z Yang, B Kulkarni, D R Adams, F Clot, J H Ding, C R Kaneski, F W Verheijen, B W Smits, F Seguin, A Brice, M T Vanier, M Huizing, R Schiffmann, A Durr, R A Wevers
In order to identify new metabolic abnormalities in patients with complex neurodegenerative disorders of unknown aetiology, we performed high resolution in vitro proton nuclear magnetic resonance spectroscopy on patient cerebrospinal fluid (CSF) samples. We identified five adult patients, including two sisters, with significantly elevated free sialic acid in the CSF compared to both the cohort of patients with diseases of unknown aetiology (n = 144; P < 0.001) and a control group of patients with well-defined diseases (n = 91; P < 0...
March 2009: Brain: a Journal of Neurology
F Mochel, J Barritault, N Boldieu, M Eugène, F Sedel, A Durr, F Seguin
In vitro Nuclear Magnetic Resonance (NMR) spectroscopy is a validated biochemical tool for metabolic analyses of human body fluids and diagnosis of inborn errors of metabolism in children and adults. The technique is of special interest because it requires minimal sample preparation, it can detect simultaneously compounds of different nature and it offers structural information on the metabolites present in body fluids. In the last decade, in vitro NMR spectroscopy contributed to the identification of new inborn errors of metabolism, some of which are amenable to therapeutic intervention...
October 2007: Revue Neurologique
L C Coimbra, F P Figueiredo, A A M Silva, M A Barbieri, H Bettiol, A J M Caldas, E G Mochel, V S Ribeiro
Data for two birth cohorts from two Brazilian municipalities, Ribeirão Preto in 1994 and São Luís in 1997/1998, were used to identify and compare factors associated with inadequate utilization of prenatal care and to identify factors capable of explaining the differences observed between the two cities. Prenatal care was defined as adequate or inadequate according to the recommendations of the Brazilian Ministry of Health. The chi-square test and Poisson regression were used to compare differences in the inadequacy of prenatal care utilization...
September 2007: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
I Le Ber, O Dubourg, J-F Benoist, C Jardel, F Mochel, M Koenig, A Brice, A Lombès, A Dürr
APTX gene mutations responsible for ataxia-oculomotor apraxia 1 (AOA1) were identified in a family previously reported with ataxia and coenzyme Q10 (CoQ10) deficiency. We measured muscle CoQ10 levels in six patients with AOA1 and found decreased levels in five. Patients homozygous for the W279X mutation had lower values (p = 0.003). A therapeutic trial of CoQ10 may be warranted in patients with AOA1.
January 23, 2007: Neurology
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