Search Results - Böhm, Johann

Relation: https://doi.org/10.1002/humu.24470; Human Mutation; Ranta-aho , J , Olive , M , Vandroux , M , Roticiani , G , Dominguez , C , Johari , M , Torella , A , Boehm , J , Turon , J , Nigro , V , Hackman , P , Laporte , J , Udd , B & Savarese , M 2022 , ' Mutation update for the ACTN2 gene ' , Human Mutation , vol. 43 , no. 12 , pp. 1745-1756 . https://doi.org/10.1002/humu.24470; PURE: 232275251; PURE UUID: caf49155-2d89-4e84-aeee-31c6804db4c3; WOS: 000859910500001; ORCID: /0000-0002-2591-244X/work/127509078; ORCID: /0000-0002-3549-558X/work/127509790; http://hdl.handle.net/10138/353693

Availability: https://doi.org/10.1002/humu.24470
http://hdl.handle.net/10138/353693

5

Academic Journal

DNM2 levels normalization improves muscle phenotypes of a novel mouse model for moderate centronuclear myopathy

Authors: de Carvalho Neves, Juliana, Moschovaki-Filippidou, Foteini, Böhm, Johann, Laporte, Jocelyn

Contributors: LabEx INRT

Superior Title: Molecular Therapy - Nucleic Acids ; volume 33, page 321-334 ; ISSN 2162-2531

Subject Terms: Drug Discovery, Molecular Medicine

Availability: https://doi.org/10.1016/j.omtn.2023.07.003
https://api.elsevier.com/content/article/PII:S2162253123001762?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2162253123001762?httpAccept=text/plain

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6

Academic Journal

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Authors: Kim, Hong Joo, Mohassel, Payam, Donkervoort, Sandra, Guo, Lin^{Aff3, Aff4}, O’Donovan, Kevin, Coughlin, Maura, Lornage, Xaviere, Foulds, Nicola, Hammans, Simon R., Foley, A. Reghan, Fare, Charlotte M., Ford, Alice F., Ogasawara, Masashi^{Aff8, Aff9}, Sato, Aki, Iida, Aritoshi, Munot, Pinki, Ambegaonkar, Gautam, Phadke, Rahul, O’Donovan, Dominic G., Buchert, Rebecca, Grimmel, Mona, Töpf, Ana, Zaharieva, Irina T., Brady, Lauren, Hu, Ying, Lloyd, Thomas E., Klein, Andrea^{Aff19, Aff20}, Steinlin, Maja, Kuster, Alice, Mercier, Sandra^{Aff22, Aff23}, Marcorelles, Pascale, Péréon, Yann, Fleurence, Emmanuelle, Manzur, Adnan, Ennis, Sarah, Upstill-Goddard, Rosanna, Bello, Luca, Bertolin, Cinzia, Pegoraro, Elena, Salviati, Leonardo, French, Courtney E., Shatillo, Andriy, Raymond, F. Lucy, Haack, Tobias B., Quijano-Roy, Susana, Böhm, Johann, Nelson, Isabelle, Stojkovic, Tanya, Evangelista, Teresinha, Straub, Volker, Romero, Norma B.^{Aff36, Aff37}, Laporte, Jocelyn, Muntoni, Francesco, Nishino, Ichizo^{Aff8, Aff9}, Tarnopolsky, Mark A., Shorter, James, Bönnemann, Carsten G.^{Aff2, IDs41467022300151_cor57}, Taylor, J. Paul^{Aff1, Aff38, IDs41467022300151_cor58}

Superior Title: Nature Communications. 13(1)

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7

Academic Journal

Authors: Labasse, Clémence, Brochier, Guy, Taratuto, Ana-Lia, Cadot, Bruno, Rendu, John^{Aff4, Aff5}, Monges, Soledad, Biancalana, Valérie^{Aff7, Aff8}, Quijano-Roy, Susana, Bui, Mai Thao, Chanut, Anaïs, Madelaine, Angéline, Lacène, Emmanuelle, Beuvin, Maud^{Aff1, Aff3}, Amthor, Helge, Servais, Laurent^{Aff10, Aff11}, de Feraudy, Yvan^{Aff7, Aff12}, Erro, Marcela, Saccoliti, Maria, Neto, Osorio Abath, Fauré, Julien^{Aff4, Aff5}, Lannes, Béatrice, Laugel, Vincent, Coppens, Sandra, Lubieniecki, Fabiana, Bello, Ana Buj^{Aff16, Aff17}, Laing, Nigel, Evangelista, Teresinha^{Aff1, Aff3}, Laporte, Jocelyn, Böhm, Johann, Romero, Norma B.^{Aff1, Aff3, IDs40478022014000_cor30}

Superior Title: Acta Neuropathologica Communications. 10(1)

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8

Academic Journal

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

Authors: Vanden Brande, Laura, Bauché, Stéphanie, Pérez-Guàrdia, Laura, Sternberg, Damien, Seferian, Andreea, Malfatti, Edoardo, Silva-Rojas, Roberto, Labasse, Clémence, Chevessier, Frédéric, Carlier, Pierre, Eymard, Bruno, Romero, Norma, Laporte, Jocelyn, Servais, Laurent, Gidaro, Teresa, Böhm, Johann

Contributors: Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), IMRB - "Biologie du système neuromusculaire" Créteil (U955 Inserm - UPEC), École nationale vétérinaire d'Alfort (ENVA)-Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Hôpital Henri Mondor, Max-Planck-Institut für Medizinische Forschung, Max-Planck-Gesellschaft, Laboratoire de Résonance Magnétique Nucléaire (LRMN), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

Superior Title: ISSN: 0305-1846.

Subject Terms: [SDV]Life Sciences [q-bio]

Relation: hal-04409827; https://hal.science/hal-04409827

Availability: https://doi.org/10.1111/nan.12952
https://hal.science/hal-04409827

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9

Academic Journal

Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy

Authors: Lornage, Xavière, Mallaret, Martial, Silva-Rojas, Roberto, Biancalana, Valérie^{Aff1, Aff3}, Giovannini, Diane, Dieterich, Klaus, Saker, Safaa, Deleuze, Jean-François, Wuyam, Bernard, Laporte, Jocelyn^Aff1, Böhm, Johann^Aff1

Superior Title: neurogenetics. 22(1):33-41

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10

Academic Journal

Mutation update for the ACTN2 gene

Authors: Ranta‐aho, Johanna, Olive, Montse, Vandroux, Marie, Roticiani, Giorgia, Dominguez, Cristina, Johari, Mridul, Torella, Annalaura, Böhm, Johann, Turon, Janina, Nigro, Vincenzo, Hackman, Peter, Laporte, Jocelyn, Udd, Bjarne, Savarese, Marco

Superior Title: Hum Mutat

Subject Terms: Mutation Update

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10087778/; http://www.ncbi.nlm.nih.gov/pubmed/36116040; http://dx.doi.org/10.1002/humu.24470

Availability: https://doi.org/10.1002/humu.24470
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10087778/
http://www.ncbi.nlm.nih.gov/pubmed/36116040

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11

Academic Journal

A dog model for centronuclear myopathy carrying the most common DNM2 mutation

Authors: Böhm, Johann, Barthélémy, Inès, Landwerlin, Charlène, Blanchard-Gutton, Nicolas, Relaix, Frédéric, Blot, Stéphane, Laporte, Jocelyn, Tiret, Laurent

Superior Title: Dis Model Mech

Subject Terms: Resource Article

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9016898/; http://www.ncbi.nlm.nih.gov/pubmed/35244154; http://dx.doi.org/10.1242/dmm.049219

Availability: https://doi.org/10.1242/dmm.049219
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9016898/
http://www.ncbi.nlm.nih.gov/pubmed/35244154

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12

Academic Journal

Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice

Authors: Silva-Rojas, Roberto, Pérez-Guàrdia, Laura, Lafabrie, Emma, Moulaert, David, Laporte, Jocelyn, Böhm, Johann

Contributors: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Clinique de la Souris (ICS)

Superior Title: ISSN: 1661-6596.

Subject Terms: tubular aggregate myopathy, Stormorken syndrome, muscle disorder, calcium, STIM1, ORAI1, mouse model, ion channel, shRNA, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology

Relation: hal-03777978; https://hal.science/hal-03777978; https://hal.science/hal-03777978/document; https://hal.science/hal-03777978/file/ijms-23-06968-v2.pdf

Availability: https://doi.org/10.3390/ijms23136968
https://hal.science/hal-03777978
https://hal.science/hal-03777978/document
https://hal.science/hal-03777978/file/ijms-23-06968-v2.pdf

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13

Academic Journal

A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy.

Authors: Gangfuß, Andrea, Rating, Philipp, Ferreira, Tomas, Hentschel, Andreas, Marina, Adela Della, Kölbel, Heike, Sickmann, Albert, Abicht, Angela, Kraft, Florian, Ruck, Tobias, Böhm, Johann, Schänzer, Anne, Schara-Schmidt, Ulrike, Neuhann, Teresa M., Horvath, Rita, Roos, Andreas

Superior Title: Journal of Neuromuscular Diseases; 2024, Vol. 11 Issue 2, p485-491, 7p

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14

Academic Journal

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

Authors: Biancalana, Valérie^{Aff1, Aff2}, Rendu, John^{Aff3, Aff4}, Chaussenot, Annabelle, Mecili, Helen, Bieth, Eric, Fradin, Mélanie, Mercier, Sandra^{Aff9, Aff10}, Michaud, Maud, Nougues, Marie-Christine, Pasquier, Laurent^{Aff13, Aff14}, Sacconi, Sabrina, Romero, Norma B., Marcorelles, Pascale^{Aff17, Aff18}, Authier, François Jérôme, Gelot Bernabe, Antoinette^{Aff20, Aff21}, Uro-Coste, Emmanuelle, Cances, Claude, Isidor, Bertrand^{Aff9, Aff10}, Magot, Armelle^{Aff10, Aff24}, Minot-Myhie, Marie-Christine^{Aff8, Aff25}, Péréon, Yann^{Aff10, Aff24}, Perrier-Boeswillwald, Julie, Bretaudeau, Gilles, Dondaine, Nicolas, Bouzenard, Alison, Pizzimenti, Mégane, Eymard, Bruno, Ferreiro, Ana^{Aff27, Aff28}, Laporte, Jocelyn, Fauré, Julien^{Aff3, Aff4}, Böhm, Johann

Superior Title: Acta Neuropathologica Communications. 9(1)

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15

Periodical

A Homozygous NDUFS6Variant Associated with Neuropathy and Optic Atrophy

Authors: Gangfuß, Andrea, Rating, Philipp, Ferreira, Tomas, Hentschel, Andreas, Marina, Adela Della, Kölbel, Heike, Sickmann, Albert, Abicht, Angela, Kraft, Florian, Ruck, Tobias, Böhm, Johann, Schänzer, Anne, Schara-Schmidt, Ulrike, Neuhann, Teresa M., Horvath, Rita, Roos, Andreas

Superior Title: Journal of Neuromuscular Diseases; March 2024, Vol. 11 Issue: 2 p485-491, 7p

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16

Academic Journal

Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study

Authors: Reumers, Stacha F.I., Braun, Frederik, Spillane, Jennifer E., Böhm, Johann, Pennings, Maartje, Schouten, Meyke, van der Kooi, Anneke J., Foley, A. Reghan, Bönnemann, Carsten G., Kamsteeg, Erik-jan, Erasmus, Corrie E., Schara-Schmidt, Ulrike, Jungbluth, Heinz, Voermans, Nicol C.

Superior Title: Neurology

Subject Terms: Research Articles

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8356379/; http://www.ncbi.nlm.nih.gov/pubmed/34011573; http://dx.doi.org/10.1212/WNL.0000000000012236

Availability: https://doi.org/10.1212/WNL.0000000000012236
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8356379/
http://www.ncbi.nlm.nih.gov/pubmed/34011573

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17

Academic Journal

Pathophysiological Effects of Overactive STIM1 on Murine Muscle Function and Structure

Authors: Silva-Rojas, Roberto, Charles, Anne-Laure, Djeddi, Sarah, Geny, Bernard, Laporte, Jocelyn, Böhm, Johann

Superior Title: Cells

Subject Terms: Article

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8304505/; http://dx.doi.org/10.3390/cells10071730

Availability: https://doi.org/10.3390/cells10071730
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8304505/

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18

Academic Journal

STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice

Authors: Silva-Rojas Roberto, Treves Susan, Jacobs Hugues, Kessler Pascal, Messaddeq Nadia, Laporte Jocelyn, Böhm Johann

Contributors: Silva-Rojas, Roberto, Treves, Susan, Jacobs, Hugue, Kessler, Pascal, Messaddeq, Nadia, Laporte, Jocelyn, Böhm, Johann

Subject Terms: phenotype, mutation, immune system, eye, mice, skin, spleen, stromal interaction, molecule 1

File Description: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/30576443; info:eu-repo/semantics/altIdentifier/wos/WOS:000475882600001; volume:28; issue:10; firstpage:1579; lastpage:1593; numberofpages:15; journal:HUMAN MOLECULAR GENETICS ONLINE; http://hdl.handle.net/11392/2406248; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068575524; https://academic.oup.com/hmg/article-abstract/28/10/1579/5257096?redirectedFrom=fulltext

Availability: https://doi.org/10.1093/hmg/ddy446
http://hdl.handle.net/11392/2406248
https://academic.oup.com/hmg/article-abstract/28/10/1579/5257096?redirectedFrom=fulltext

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19

Academic Journal

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients

Authors: Abath Neto, Osorio, Moreno, Cristiane de Araújo Martins, Malfatti, Edoardo, Donkervoort, Sandra, Böhm, Johann, Guimarães, Júlio Brandão, Foley, A. Reghan, Mohassel, Payam, Dastgir, Jahannaz, Bharucha-Goebel, Diana Xerxes, Monges, Soledad, Lubieniecki, Fabiana, Collins, James, Medne, Līvija, Santi, Mariarita, Yum, Sabrina, Banwell, Brenda, Salort-Campana, Emmanuelle, Rendu, John, Fauré, Julien, Yis, Uluc, Eymard, Bruno, Cheraud, Chrystel, Schneider, Raphaël, Thompson, Julie, Lornage, Xaviere, Mesrob, Lilia, Lechner, Doris, Boland, Anne, Deleuze, Jean-François, Reed, Umbertina Conti, Oliveira, Acary Souza Bulle, Biancalana, Valérie, Romero, Norma B., Bönnemann, Carsten G., Laporte, Jocelyn, Zanoteli, Edmar ^*

Superior Title: In Neuromuscular Disorders November 2017 27(11):975-985

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20

Academic Journal

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

Contributors: Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), ANR-10-INBS-09 Fondation Maladies Rares, FMR National Institute of Neurological Disorders and Stroke, NINDS, This study was supported by intramural funds from the NIH National Institute of Neurological Disorders and Stroke (grant to C.G.B). J.E.D. is supported by National Institute for Health Research Oxford Biomedical Research Centre, Oxford, United Kingdom. J.L. and J.B. are supported by France G?nomique (ANR-10-INBS-09) and Fondation Maladies Rares within the framework of the ?Myocapture? sequencing project. We thank the patients and their families for their generous participation in this study, Dr P. Mohassel for his help in evaluating the patients, and M. Pizzimenti for technical assistance., ANR-10-INBS-0009,France Génomique,Organisation et montée en puissance d'une Infrastructure Nationale de Génomique(2010)

Superior Title: ISSN: 0364-5134.

Subject Terms: [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/32403198; hal-02938442; https://hal.science/hal-02938442; https://hal.science/hal-02938442/document; https://hal.science/hal-02938442/file/islandora_151150.pdf; PUBMED: 32403198; PUBMEDCENTRAL: PMC7496979

Availability: https://doi.org/10.1002/ana.25772
https://hal.science/hal-02938442
https://hal.science/hal-02938442/document
https://hal.science/hal-02938442/file/islandora_151150.pdf

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