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Search life-sciences literature (45,100,050 articles, preprints and more)

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Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J, Masingue M, Behin A, Ferreiro A, Bassez G, Jaubert P, Tarabay O, Fer F, Pegat A, Bouhour F, Svahn J, Petiot P, Jomir L, Chauplannaz G, Cornut-Chauvinc C, Manel V, Salort-Campana E, Attarian S, Fortanier E, [...] Eymard B
Brain, 147(11):3849-3862, 01 Nov 2024
Cited by: 0 articles | PMID: 38696726 | PMCID: PMC11531845
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Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, [...] Laurie S
NPJ Genom Med, 9(1):49, 26 Oct 2024
Cited by: 0 articles | PMID: 39461972 | PMCID: PMC11513043
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Congenital myasthenic syndromes by Epsilon subunit mutations: Phenotypic profiles of 17 Algerian families.
Kediha MI, Tazir M, Sternberg D, Eymard B, Ali Pacha L
Rev Neurol (Paris), S0035-3787(24)00599-X, 07 Oct 2024
Cited by: 0 articles | PMID: 39379219
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Comparison of juvenile and adult myasthenia gravis in a French cohort with focus on thymic histology.
Truffault F, Auger L, Dragin N, Vilquin JT, Fadel E, Thomas de Montpreville V, Mansuet-Lupo A, Regnard JF, Alifano M, Sharshar T, Behin A, Eymard B, Bolgert F, Demeret S, Berrih-Aknin S, Le Panse R
Sci Rep, 14(1):13955, 17 Jun 2024
Cited by: 0 articles | PMID: 38886398 | PMCID: PMC11183198
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Innovative Therapeutic Approaches in Congenital Myasthenic Syndromes.
Kediha MI, Tazir M, Sternberg D, Eymard B, Ali Pacha L
Neurol Clin Pract, 14(3):e200277, 07 May 2024
Cited by: 0 articles | PMID: 38737513
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An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, [...] Solve-RD consortium
Gigascience, 13:giae058, 01 Jan 2024
Cited by: 0 articles | PMID: 39302238 | PMCID: PMC11413801
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Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.
Brande LV, Bauché S, Pérez-Guàrdia L, Sternberg D, Seferian AM, Malfatti E, Silva-Rojas R, Labasse C, Chevessier F, Carlier P, Eymard B, Romero NB, Laporte J, Servais L, Gidaro T, Böhm J
Neuropathol Appl Neurobiol, e12952, 20 Dec 2023
Cited by: 1 article | PMID: 38124360
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[Congenital myasthenic syndromes with kinetic abnormalities of the acetylcholine receptor].
Islam Kediha M, Tazir M, Sternberg D, Eymard B, Ali Pacha L
Med Sci (Paris), 39 Hors série n° 1:58-63, 17 Nov 2023
Cited by: 0 articles | PMID: 37975772
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Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ.
Barbeau S, Semprez F, Dobbertin A, Merriadec L, Roussange F, Eymard B, Sternberg D, Fournier E, Karasoy H, Martinat C, Legay C
Int J Mol Sci, 24(22):16217, 11 Nov 2023
Cited by: 0 articles | PMID: 38003406 | PMCID: PMC10671321
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The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).
Allen NM, O'Rahelly M, Eymard B, Chouchane M, Hahn A, Kearns G, Kim DS, Byun SY, Nguyen CE, Schara-Schmidt U, Kölbel H, Marina AD, Schneider-Gold C, Roefke K, Thieme A, Van den Bergh P, Avalos G, Álvarez-Velasco R, Natera-de Benito D, [...] Jungbluth H
Brain, 146(10):4233-4246, 01 Oct 2023
Cited by: 7 articles | PMID: 37186601 | PMCID: PMC10545502
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New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.
Masingue M, Cattaneo O, Wolff N, Buon C, Sternberg D, Euchparmakian M, Boex M, Behin A, Mamchaouhi K, Maisonobe T, Nougues MC, Isapof A, Fontaine B, Messéant J, Eymard B, Strochlic L, Bauché S
Sci Rep, 13(1):14054, 28 Aug 2023
Cited by: 1 article | PMID: 37640745 | PMCID: PMC10462681
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Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort.
Berling E, Verebi C, Venturelli N, Vassilopoulos S, Béhin A, Tard C, Michaud M, Quiles RNV, Vicart S, Masingue M, Carlier RY, Romero NB, Lacene E, Leturcq F, Eymard B, Laforêt P, Stojkovic T
Eur J Neurol, 30(8):2506-2517, 25 May 2023
Cited by: 0 articles | PMID: 37166430
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
Yaldiz B, Kucuk E, Hampstead J, Hofste T, Pfundt R, Corominas Galbany J, Rinne T, Yntema HG, Hoischen A, Nelen M, Gilissen C, Solve-RD consortium
Hum Genomics, 17(1):39, 03 May 2023
Cited by: 4 articles | PMID: 37138343 | PMCID: PMC10155375
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Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K, [...] Banka S
HGG Adv, 4(2):100186, 03 Mar 2023
Cited by: 2 articles | PMID: 37009414 | PMCID: PMC10064225
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Congenital myasthenic syndrome by mutation of the ColQ gene: Phenotypic and evolutionary profile of three Algerian families.
Kediha MI, Tazir M, Magnouche C, Sternberg D, Belarbi S, Eymard B, Ali Pacha L
Rev Neurol (Paris), 179(6):570-575, 08 Feb 2023
Cited by: 0 articles | PMID: 36764859
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LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.
Stojkovic T, Masingue M, Métay C, Romero NB, Eymard B, Ben Yaou R, Rialland L, Drunat S, Gartioux C, Nelson I, Allamand V, Bonne G, Villar-Quiles RN
J Neuromuscul Dis, 10(1):125-133, 01 Jan 2023
Cited by: 0 articles | PMID: 36373293
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, [...] Faivre L
Genet Med, 25(4):100018, 20 Jan 2023
Cited by: 4 articles | PMID: 36681873
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Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11.
Kramer JJ, Boon HTM, Leijten QH, Ter Laak H, Eshuis L, Kusters B, van Doorn JLM, Kamsteeg EJ, Eymard B, Doorduin J, Voermans NC
J Neuromuscul Dis, 10(2):271-277, 01 Jan 2023
Cited by: 1 article | PMID: 36591657 | PMCID: PMC10041432
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Highly asymmetrical distribution of muscle wasting correlates to the heteroplasmy in a patient carrying a large-scale mitochondrial DNA deletion: a novel pathophysiological mechanism for explaining asymmetry in mitochondrial myopathies.
Masingue M, Rucheton B, Bris C, Romero NB, Procaccio V, Eymard B
Neuromuscul Disord, 32(11-12):923-930, 27 Oct 2022
Cited by: 1 article | PMID: 36428163
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Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes.
Stojkovic T, Masingue M, Turmel H, Hezode-Arzel M, Béhin A, Leonard-Louis S, Bassez G, Bauché S, Blondy P, Richard P, Sternberg D, Eymard B, Fournier E, Villar-Quiles RN
Neuromuscul Disord, 32(11-12):870-878, 09 Oct 2022
Cited by: 1 article | PMID: 36522822
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Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.
Jacquier A, Risson V, Simonet T, Roussange F, Lacoste N, Ribault S, Carras J, Theuriet J, Girard E, Grosjean I, Le Goff L, Kröger S, Meltoranta J, Bauché S, Sternberg D, Fournier E, Kostera-Pruszczyk A, O'Connor E, Eymard B, [...] Schaeffer L
Acta Neuropathol, 144(4):707-731, 10 Aug 2022
Cited by: 3 articles | PMID: 35948834 | PMCID: PMC9468088
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Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, [...] VCP International Study Group
J Neurol Neurosurg Psychiatry, jnnp-2022-328921, 27 Jul 2022
Cited by: 15 articles | PMID: 35896379 | PMCID: PMC9880250
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Unravelling the impact of frontal lobe impairment for social dysfunction in myotonic dystrophy type 1.
Morin A, Funkiewiez A, Routier A, Le Bouc R, Borderies N, Galanaud D, Levy R, Pessiglione M, Dubois B, Eymard B, Michon CC, Angeard N, Behin A, Laforet P, Stojkovic T, Azuar C
Brain Commun, 4(3):fcac111, 17 May 2022
Cited by: 4 articles | PMID: 35611304 | PMCID: PMC9123843
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Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).
Mosbah H, Donadille B, Vatier C, Janmaat S, Atlan M, Badens C, Barat P, Béliard S, Beltrand J, Ben Yaou R, Bismuth E, Boccara F, Cariou B, Chaouat M, Charriot G, Christin-Maitre S, De Kerdanet M, Delemer B, Disse E, [...] Vigouroux C
Orphanet J Rare Dis, 17(suppl 1):170, 19 Apr 2022
Cited by: 6 articles | PMID: 35440056 | PMCID: PMC9019936
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Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report.
Kediha MI, Tazir M, Sternberg D, Eymard B, Alipacha L
J Med Case Rep, 16(1):134, 26 Mar 2022
Cited by: 4 articles | PMID: 35337379 | PMCID: PMC8957144
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1-25 of 417 results

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Search life-sciences literature (45,100,050 articles, preprints and more)

Search results

Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

Congenital myasthenic syndromes by Epsilon subunit mutations: Phenotypic profiles of 17 Algerian families.

Comparison of juvenile and adult myasthenia gravis in a French cohort with focus on thymic histology.

Innovative Therapeutic Approaches in Congenital Myasthenic Syndromes.

An interconnected data infrastructure to support large-scale rare disease research.

Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.

[Congenital myasthenic syndromes with kinetic abnormalities of the acetylcholine receptor].

Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ.

The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).

New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.

Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.

Congenital myasthenic syndrome by mutation of the ColQ gene: Phenotypic and evolutionary profile of three Algerian families.

LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11.

Highly asymmetrical distribution of muscle wasting correlates to the heteroplasmy in a patient carrying a large-scale mitochondrial DNA deletion: a novel pathophysiological mechanism for explaining asymmetry in mitochondrial myopathies.

Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes.

Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.

Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.

Unravelling the impact of frontal lobe impairment for social dysfunction in myotonic dystrophy type 1.

Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).

Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report.

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