Search Results - "Laugel, V."

Diagnostic and severity scores for Cockayne syndrome by Spitz, M A, Severac, F, Obringer, C, Baer, S, Le May, N, Calmels, N, Laugel, V

“…Cockayne syndrome is a progressive multisystem genetic disorder linked to defective DNA repair and transcription. This rare condition encompasses a very wide…”
Get full text

Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease by Mortreux, J, Bacquet, J, Boyer, A, Alazard, E, Bellance, R, Giguet-Valard, A G, Cerino, M, Krahn, M, Audic, F, Chabrol, B, Laugel, V, Desvignes, J P, Béroud, C, Nguyen, K, Verschueren, A, Lévy, N, Attarian, S, Delague, V, Missirian, C, Bonello-Palot, N

“…Charcot-Marie-Tooth disease (CMT) is a hereditary sensory-motor neuropathy characterized by a strong clinical and genetic heterogeneity. Over the past few…”
Get full text

COVID-19 in children at Strasbourg University Hospital: A retrospective study of the first 2months of the epidemic by Lavaine, O., Spizzo, J., Arbitre, C., Muller, J., Kuhn, P., Laugel, V., Tchomakov, D.

“…The emergence and rapid spread of coronavirus disease 2019 (COVID-19) have shaken the planet, both in terms of health and economical aspects, constituting a…”
Get full text

Neuroimaging In Cockayne Syndrome by KOOB, M, LAUGEL, V, DURAND, M, FOTHERGILL, H, DALLOZ, C, SAUVANAUD, F, DOLLFUS, H, NAMER, I. J, DIETEMANN, J.-L

“…CS is an autosomal recessive multisystem disorder, which is mainly characterized by neurologic and sensory impairment, cachectic dwarfism, and…”
Get full text

Diagnosis and natural history of Duchenne muscular dystrophy by Desguerre, I, Laugel, V

“…Duchenne myopathy is today the most frequently encountered progressive muscular dystrophy in children, with an inexorable, progressive development to death in…”
Get full text

Benign hereditary chorea: From benign to serious by Lamiral, A., El Chehadeh, S., Chelly, J., Anheim, M., Laugel, V., Tranchant, C.

Get full text

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management by Anheim, M., Fleury, M., Monga, B., Laugel, V., Chaigne, D., Rodier, G., Ginglinger, E., Boulay, C., Courtois, S., Drouot, N., Fritsch, M., Delaunoy, J. P., Stoppa-Lyonnet, D., Tranchant, C., Koenig, M.

“…While Friedreich's ataxia (FRDA) and ataxia telangiectasia (AT) are known to be the two most frequent forms of autosomal recessive cerebellar ataxia (ARCA),…”
Get full text

The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil by Castro, L.P., Sahbatou, M., Kehdy, F.S.G., Farias, A.A., Yurchenko, A.A., de Souza, T.A., Rosa, R.C.A., Mendes-Junior, C.T., Borda, V., Munford, V., Zanardo, É.A., Chehimi, S.N., Kulikowski, L.D., Aquino, M.M., Leal, T.P., Tarazona-Santos, E., Chaibub, S.C., Gener, B., Calmels, N., Laugel, V., Sarasin, A., Menck, C.F.M.

“…•Identifying a common genomic segment between Brazilian and Spanish XP patients.•The POLH intron 6 mutation in Brazil is originally from Europe.•The founder…”
Get full text

Lyme neuroborreliosis in children: Report of nine cases and a review of the literature by Guet-Revillet, H., Levy, C., Vallet, C., Maghraoui-Slim, V., Dommergues, M.-A., Hentgen, V., Paget, C., Laugel, V., Cohen, R., Ferroni, A.

“…Lyme neuroborreliosis is a bacterial infection caused by the dissemination and proliferation of a Borrelia species in the central nervous system…”
Get full text

The place of neuropathy in the early diagnosis of Cockayne syndrome: Report on two siblings by Blin-Rochemaure, N, Allani-Essid, N, Carlier, R, Laugel, V, Quijano-Roy, S

“…Two siblings affected with Cockayne syndrome (CS) are described: this diagnosis was suggested by the finding of a demyelinating neuropathy on electromyography…”
Get full text

Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum by Ewenczyk, C., Leroux, A., Roubergue, A., Laugel, V., Afenjar, A., Saudubray, J. M., Beauvais, P., de Villemeur, T. Billette, Vidailhet, M., Roze, E.

“…Type II recessive hereditary methaemoglobinaemia (RHM) is a rare disease due to generalized NADH-cytochrome b5 reductase (cytb5r) deficiency. It results in…”
Get full text

Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation by Laugel, V, Dalloz, C, Tobias, E S, Tolmie, J L, Martin-Coignard, D, Drouin-Garraud, V, Valayannopoulos, V, Sarasin, A, Dollfus, H

“…The cerebro-oculo-facio-skeletal syndrome (COFS syndrome) is an autosomal recessive disorder which was initially described in a specific aboriginal population…”
Get more information

Reducing dynamin 2 rescues a severe congenital myopathy in mice by Cowling, B, Prokic, I, Chevremont, T, Kretz, C, Ferry, A, Coirault, C, Laugel, V, Romero, N, Laporte, J

Get full text

The Lipid Phosphatase Myotubularin Is Essential for Skeletal Muscle Maintenance but Not for Myogenesis in Mice by Buj-Bello, Anna, Laugel, Vincent, Messaddeq, Nadia, Zahreddine, Hala, Laporte, Jocelyn, Pellissier, Jean-François, Mandel, Jean-Louis

“…Myotubularin is a ubiquitously expressed phosphatase that acts on phosphatidylinositol 3-monophosphate [PI(3)P], a lipid implicated in intracellular vesicle…”
Get full text

Feasibility of magneto-inertial motion analysis in non-ambulant patients with spinal muscular atrophy by Seferian, A, Quicke, G, Gidaro, T, Gargaun, E, Gasnier, E, Pereon, Y, Daron, A, Cances, C, Vuillerot, C, Goemans, N, Laugel, V, Cuisset, J, Schara, U, Marquet, A, Chabanon, A, Annoussamy, M, Vissiere, D, Servais, L

Get full text

Baseline data from a European prospective and longitudinal natural history study of patients with type 2 and 3 spinal muscular atrophy – NatHis-SMA by Chabanon, A, Pereon, Y, Daron, A, Cances, C, Vuillerot, C, Fontaine, S, Goemans, N, De Waele, L, Laugel, V, Cuisset, J, Schara, U, Gangfuss, A, Gidaro, T, Gargaun, E, Marquet, A, Villeret, M, Phelep, A, Annoussamy, M, Servais, L

Get full text

PP05.10 – 3086: Cockayne syndrome and DNA repair disorders: Novel expanding neurological phenotype by Laugel, V, Greff, G, Obringer, C, Querol, B. Gener, Mazur, A, Sabouraud, P, Calmels, N

“…Objective Cockayne syndrome is an autosomal recessive leukodystrophy and multisystem disorder characterized by mental retardation, microcephaly, severe growth…”
Get full text

G.O.22 by Cowling, B.S, Chevremont, T, Prokic, I, Tasfaout, H, Kretz, C, Ferry, A, Coirault, C, Laugel, V, Romero, N.B, Laporte, J

“…Centronuclear myopathies (CNM) are associated with muscle weakness and abnormally located nuclei in skeletal muscle. They can be due to mutations in the MTM1…”
Get full text

A European prospective study of the natural history of patients with type 2 and 3 spinal muscular atrophy by Annoussamy, M, Chabanon, A, Phelep, A, Hogrel, J.Y, Carlier, P, Fournier, E, Hermosilla, R, Ramey, G, Czech, C, Lowes, L, Péréon, Y, Cances, C, Cuisset, J, Laugel, V, Vuillerot, C, Daron, A, Goemans, N, Schara, U, Voit, T, Servais, L

Get full text

Measurement of hydrostatic intraperitoneal pressure: a useful tool for the improvement of dialysis dose prescription by FISCHBACH, M, TERZIC, J, LAUGEL, V, ESCANDE, B, DANGELSER, Cl, HELMSTETTER, A

“…The prescription of peritoneal dialysis should be individualized based on parameters of tolerance and adequacy. Determination of the intraperitoneal fill…”
Get full text