Search Results - "Remiche, Gauthier"

Antibodies against the node of Ranvier: a real-life evaluation of incidence, clinical features and response to treatment based on a prospective analysis of 1500 sera by Delmont, Emilien, Brodovitch, Alexandre, Kouton, Ludivine, Allou, Thibaut, Beltran, Stéphane, Brisset, Marion, Camdessanché, Jean Philippe, Cauquil, Cécile, Cirion, Jonathan, Dubard, Thierry, Echaniz-Laguna, Andoni, Grapperon, Aude-Marie, Jauffret, Joëlle, Juntas-Morales, Raul, Kremer, Laurent Daniel, Kuntzer, Thierry, Labeyrie, Céline, Lanfranco, Lucas, Maisonobe, Thierry, Mavroudakis, Nicolas, Mecharles-Darrigol, Sylvie, Nicolas, Guillaume, Noury, Jean-Baptiste, Perie, Maud, Rajabally, Yusuf A., Remiche, Gauthier, Rouaud, Violaine, Tard, Céline, Salort-Campana, Emmanuelle, Verschueren, Annie, Viala, Karine, Wang, Adrien, Attarian, Shahram, Boucraut, José

“…Introduction IgG4 antibodies against neurofascin (Nfasc155 and Nfasc140/186), contactin (CNTN1) and contactin-associated protein (Caspr1) are described in…”
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RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia by Beijer, Danique, Dohrn, Maike F., Winter, Jonathan, Fazal, Sarah, Cortese, Andrea, Stojkovic, Tanya, Fernández‐Eulate, Gorka, Remiche, Gauthier, Gentile, Mattia, Coster, Rudy, Dufke, Claudia, Synofzik, Matthis, Jonghe, Peter, Züchner, Stephan, Baets, Jonathan

“…Background and purpose Ataxia and cough are rare features in hereditary sensory and autonomic neuropathies (HSAN), a group of diseases of mostly unknown…”
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Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene by Bisciglia, Michela, Kadhim, Hazim, Lecomte, Sophie, Vandernoot, Isabelle, Desmyter, Laurence, Remiche, Gauthier

“…Dominant mutations in CACNA1S gene mainly causes hypokalemic periodic paralysis (PP)(hypoPP). A 68-year-old male proband developed a progressive proximal…”
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Lessons for future clinical trials in adults with Becker muscular dystrophy: Disease progression detected by muscle magnetic resonance imaging, clinical and patient‐reported outcome measures by De Wel, Bram, Iterbeke, Louise, Huysmans, Lotte, Peeters, Ronald, Goosens, Veerle, Dubuisson, Nicolas, Bergh, Peter, Van Parijs, Vinciane, Remiche, Gauthier, De Waele, Liesbeth, Maes, Frederik, Dupont, Patrick, Claeys, Kristl G.

“…Background and purpose Because Becker muscular dystrophy (BMD) is a heterogeneous disease and only few studies have evaluated adult patients, it is currently…”
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SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review by Remiche, Gauthier, Vandernoot, Isabelle, Sadeghi-Meibodi, Niloufar, Desmyter, Laurence

“…C 19orf12 gene biallelic mutations lead mainly to neurodegeneration with brain iron accumulation-4. A 15-year-old male and his 17-year-old sister complained of…”
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Corpus callosum thinning in autosomal dominant hereditary spastic paraplegia associated with a novel TUBβ4A mutation by Lamartine S. Monteiro, Marta, Vandernoot, Isabelle, Desmyter, Laurence, Wermenbol, Vanessa, Naeije, Gilles, Remiche, Gauthier

“…Siblings with hereditary spastic paraplegia and corpus callosum thinning associated with a novel TUBβ4A mutation…”
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Impact of hyponatremia on nerve conduction and muscle strength by Vandergheynst, Frédéric, Gombeir, Yannick, Bellante, Flavio, Perrotta, Gaetano, Remiche, Gauthier, Mélot, Christian, Mavroudakis, Nicolas, Decaux, Guy

“…Background Hyponatremia is associated with unstable gait and propensity to falls. The potential contribution of peripheral nervous system dysfunction induced…”
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A First Case of Acute Flaccid Myelitis Related to Enterovirus D68 in Belgium: Case Report by Rodesch, Marine, Sculier, Claudine, Lolli, Valentina, Remiche, Gauthier, Delpire, Iris, Fricx, Christophe, Vermeulen, Françoise, Christiaens, Florence

“…Abstract Introduction: We describe the first case of acute flaccid myelitis (AFM) related to enterovirus D68 (EV-D68) infection in Belgium. The clinical and…”
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Acute Paraparesis after Epidural Corticosteroid Injection Revealing Spinal Dural Arteriovenous Fistula in a HIV Patient by Le Goueff, Anouk, Mavroudakis, Nicolas, Mine, Benjamin, De Witte, Olivier, Remiche, Gauthier

“…Spinal dural arteriovenous fistulas (SDAVFs) are often misdiagnosed as their symptoms are non-specific, leading to treatment delay and a poor outcome. We…”
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Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey by El-Hassar, Lynda, Amara, Ahmed, Sanson, Benoit, Lacatus, Oana, Amir Belhouchet, Ahmed, Kroneman, Madelon, Claeys, Kristl, Plançon, Jean Philippe, Rodolico, Carmelo, Primiano, Guido, Trojsi, Francesca, Filosto, Massimiliano, Mongini, Tiziana Enrica, Bortolani, Sara, Monforte, Mauro, Carraro, Elena, Maggi, Lorenzo, Ricci, Federica, Silani, Vincenzo, Orsucci, Daniele, Créange, Alain, Péréon, Yann, Stojkovic, Tanya, van der Beek, Nadine Anna Maria Elisabeth, Toscano, Antonio, Pareyson, Davide, Attarian, Shahram, Van den Bergh, Peter Y K, Remiche, Gauthier, Hoeijmakers, Janneke G J, Badrising, Umesh, Voermans, Nicol C, Kaindl, Angela M, Schara-Schmidt, Ulrike, Schoser, Benedikt, Gazzerro, Elisabetta, Haberlová, Jana, Voháňka, Stanislav, Pál, Endre, Molnar, Maria Judit, Leonardis, Lea, Tournev, Ivailo L, Osorio, Andrés Nascimento, Olivé, Montse, Muelas, Nuria, Alonso-Perez, Jorge, Plá, Francesc, de Visser, Marianne, Siciliano, Gabriele, Sacconi, Sabrina

“…Telemedicine (TM) contributes to bridge the gap between healthcare facilities and patients' homes with neuromuscular disease (NMD) because of mobility issues…”
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Unusual phenotypical findings in two unrelated Belgian patients with Charcot-Marie-Tooth disease, dominant intermediate E (CMT-DIE) (4250) by Remiche, Gauthier, Nortier, Joëlle, Vandernoot, Isabelle, Glibert, Gérald, Baets, Jonathan, Race, Valérie, Desmyter, Laurence

“…Abstract only…”
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Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation by Pandolfo, Massimo, Rai, Myriam, Remiche, Gauthier, Desmyter, Laurence, Vandernoot, Isabelle

“…To describe the clinical and molecular genetic findings in a family segregating a novel mutation in the gene on the X chromosome. We studied the clinical…”
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A first case of acute flaccid myelitis related to enterovirus D-68 in Belgium by Rodesch, Marine, Sculier, Claudine, Lolli, Valentina, Remiche, Gauthier, Delpire, Iris, Fricx, Christophe, Vermeulen, Françoise, Christiaens, Florence

“…Introduction We describe the first case of acute flaccid myelitis (AFM) related to enterovirus D-68 (EV-D68) infection in Belgium. The clinical and…”
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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness by Töpf, Ana, Johnson, Katherine, Bates, Adam, Phillips, Lauren, Chao, Katherine R., England, Eleina M., Laricchia, Kristen M., Mullen, Thomas, Valkanas, Elise, Xu, Liwen, Bertoli, Marta, Blain, Alison, Casasús, Ana B., Duff, Jennifer, Mroczek, Magdalena, Specht, Sabine, Lek, Monkol, Ensini, Monica, MacArthur, Daniel G., Straub, Volker

“…Purpose Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic…”
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Ataxia And Cough Are Indicative For Biallelic RFC1 Repeat Expansions In Hereditary Sensory And Autonomic Neuropathy (S29.010) by Beijer, Danique, Dohrn, Maike, De Winter, Jonathan, Fazal, Sarah, Cortese, Andrea, Stojkovic, Tanya, Fernandez-Eulate, Gorka, Gentile, Mattia, Remiche, Gauthier, Synofzik, Matthis, De Jonghe, Peter, Züchner, Stephan, Baets, Jonathan

“…Abstract only…”
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A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathology by Kadhim, Hazim, El-Howayek, Eliane, Coppens, Sandra, Duff, Jennifer, Topf, Ana, Kaleeta, Jean-Paul, Simoni, Paolo, Boitsios, Grammatina, Remiche, Gauthier, Straub, Volker, Vilain, Catheline, Deconinck, Nicolas

“…•CTBP1-related HADDTS is a very rarely reported neurodevelopmental syndrome.•We report a de novo CTBP1 variant featuring HADDTS and muscular dystrophy.•HADDTS…”
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Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients by Smeets, Nathalie, Gheldof, Alexander, Dequeker, Bart, Poleur, Margaux, Maldonado Slootjes, Sofia, Van Parijs, Vinciane, Deconinck, Nicolas, Dontaine, Pauline, Alonso-Jimenez, Alicia, De Bleecker, Jan, De Ridder, Willem, Herdewyn, Sarah, Paquay, Stéphanie, Vanlander, Arnaud, De Waele, Liesbeth, Peirens, Geertrui, Beysen, Diane, Claeys, Kristl G., Dubuisson, Nicolas, Hansen, Isabelle, Remiche, Gauthier, Seneca, Sara, Bissay, Véronique, Régal, Luc

“…Congenital myasthenic syndromes (CMS) are a group of genetic disorders characterized by impaired neuromuscular transmission. CMS typically present at a young…”
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Recommendations for the management of myasthenia gravis in Belgium by De Bleecker, Jan L., Remiche, Gauthier, Alonso-Jiménez, Alicia, Van Parys, Vinciane, Bissay, Véronique, Delstanche, Stéphanie, Claeys, Kristl G.

“…International guidelines on the treatment of myasthenia gravis (MG) have been published but are not tailored to the Belgian situation. This publication…”
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A retrospective survey of patients with hereditary transthyretin-mediated (hATTR) amyloidosis treated with patisiran in real-world clinical practice in Belgium by De Bleecker, Jan L., Claeys, Kristl G., Delstanche, Stéphanie, Van Parys, Vinciane, Baets, Jonathan, Tilleux, Sébastien, Remiche, Gauthier

“…Introduction Hereditary transthyretin-mediated (hATTR) amyloidosis, a genetic disease caused by mutations in the transthyretin gene, leads to progressive…”
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Rituximab Responsive Relapsing–Remitting IgG4 Anticontactin 1 Chronic Inflammatory Demyelinating Polyradiculoneuropathy Associated With Membranous Nephropathy: A Case Description and Brief Review by Remiche, Gauthier, Monteiro, Marta Lamartine S., Catalano, Concetta, Hougardy, Jean-Michel, Delmont, Emilien, Boucraut, José, Mavroudakis, Nicolas

“…Nodal/paranodal IgG4-related chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) rarely involves anticontactin (CNTN1) subtype and exceptionally…”
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