Works matching Myopathy

Results: 5000

Étude d'une nouvelle observation de «Nemaline Myopathy».

Published in:

Acta Neuropathologica, 1969, v. 13, n. 3, p. 250, doi. 10.1007/BF00690645

By:

Fardeau, Michel

Publication type:

Article

Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy.

Published in:

Neurology India, 2023, v. 71, n. 6, p. 1257, doi. 10.4103/0028-3886.391402

By:

Padmanabha, Hansashree;
Arunachal, Gautham;
Kishore, Pratik;
Sharma, P;
Mailankody, Pooja;
Mahale, Rohan;
Nashi, Saraswati;
Mathuranath, P;
Chandra, Sadanandavalli

Publication type:

Article

Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility.

Published in:

2023

By:

Gomes, Gustavo Rodrigues Ferreira;
Mariano, Tamiris Carneiro;
Braga, Vitor Lucas Lopes;
Ribeiro, Erlane Marques;
Guimarães, Ingred Pimentel;
Pereira, Késia Sindy Alves Ferreira;
Nóbrega, Paulo Ribeiro;
Pessoa, André Luiz Santos

Publication type:

Case Study

Corrigendum: A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy.

Published in:

2022

By:

Huang, Kun;
Bi, Fang-Fang;
Yang, Huan

Publication type:

Correction Notice

A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.761636

By:

Huang, Kun;
Bi, Fang-Fang;
Yang, Huan

Publication type:

Article

Neutral lipid storage disease with myopathy in China: a large multicentric cohort study.

Published in:

2019

By:

Zhang, Wei;
Wen, Bing;
Lu, Jun;
Zhao, Yawen;
Hong, Daojun;
Zhao, Zhe;
Zhang, Cheng;
Luo, Yuebei;
Qi, Xueliang;
Zhang, Yingshuang;
Song, Xueqin;
Zhao, Yuying;
Zhao, Chongbo;
Hu, Jing;
Yang, Huan;
Wang, Zhaoxia;
Yan, Chuanzhu;
Yuan, Yun

Publication type:

journal article

Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: a case report.

Published in:

2019

By:

Türk, Matthias;
Nagel, Armin M.;
Roemer, Frank;
Schlötzer-Schrehardt, Ursula;
Thiel, Christian T.;
Winterholler, Martin;
Schröder, Rolf

Publication type:

journal article

Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy.

Published in:

Neurological Sciences, 2024, v. 45, n. 3, p. 1225, doi. 10.1007/s10072-023-07128-6

By:

Nóbrega, Paulo Ribeiro;
de Brito de Souza, Jorge Luiz;
Maurício, Rebeca Bessa;
de Paiva, Anderson Rodrigues Brandão;
Dias, Daniel Aguiar;
Camelo, Clara Gontijo;
Zanotelli, Edmar;
Schlesinger, David;
Braga-Neto, Pedro;
Moreno, Cristiane Araujo Martins

Publication type:

Article

Hydroxychloroquine‐induced autophagic vacuolar myopathy with mitochondrial abnormalities.

Published in:

2018

By:

Khosa, Shaweta;
Khanlou, Negar;
Khosa, Gurveer S.;
Mishra, Shri K.

Publication type:

Case Study

Myofibrillar Myopathy Mimicking Polyneuropathy.

Published in:

Case Reports in Neurology, 2020, v. 12, n. 1, p. 97, doi. 10.1159/000506193

By:

Bourque, Pierre R.;
Breiner, Ari;
Warman-Chardon, Jodi

Publication type:

Article

A novel in‐frame deletion in MYOT causes an early adult onset distal myopathy.

Published in:

Clinical Genetics, 2023, v. 104, n. 6, p. 705, doi. 10.1111/cge.14413

By:

Guglielmi, Valeria;
Pancheri, Elia;
Cannone, Elena;
Nigro, Vincenzo;
Malatesta, Manuela;
Vettori, Andrea;
Giorgetti, Alejandro;
Torella, Annalaura;
Aurino, Stefania;
Cisterna, Barbara;
Marchetto, Giulia;
Tomelleri, Giuliano;
Tonin, Paola;
Schiavone, Marco;
Vattemi, Gaetano

Publication type:

Article

Expanding the histopathological spectrum of <italic>CFL2</italic>‐related myopathies.

Published in:

Clinical Genetics, 2018, v. 93, n. 6, p. 1234, doi. 10.1111/cge.13240

By:

Fattori, F.;
Fiorillo, C.;
Rodolico, C.;
Tasca, G.;
Verardo, M.;
Bellacchio, E.;
Pizzi, S.;
Ciolfi, A.;
Fagiolari, G.;
Lupica, A.;
Broda, P.;
Pedemonte, M.;
Moggio, M.;
Bruno, C.;
Tartaglia, M.;
Bertini, E.;
D'Amico, A.

Publication type:

Article

Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02973-2

By:

Lehtokari, Vilma-Lotta;
Similä, Minna;
Tammepuu, Marianne;
Wallgren-Pettersson, Carina;
Strang-Karlsson, Sonja;
Hiekkala, Sinikka

Publication type:

Article

Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature.

Published in:

2015

By:

Jariya Waisayarat;
Chinnawut Suriyonplengsaeng;
Chaiyos Khongkhatithum;
Mana Rochanawutanon

Publication type:

Case Study

Differential diagnosis of vacuolar myopathies in the NGS era.

Published in:

Brain Pathology, 2020, v. 30, n. 5, p. 877, doi. 10.1111/bpa.12864

By:

Mair, Dorothea;
Biskup, Saskia;
Kress, Wolfram;
Abicht, Angela;
Brück, Wolfgang;
Zechel, Sabrina;
Knop, Karl Christian;
Koenig, Fatima Barbara;
Tey, Shelisa;
Nikolin, Stefan;
Eggermann, Katja;
Kurth, Ingo;
Ferbert, Andreas;
Weis, Joachim

Publication type:

Article

Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.

Published in:

Genes, 2023, v. 14, n. 7, p. 1363, doi. 10.3390/genes14071363

By:

Marinella, Gemma;
Orsini, Alessandro;
Scacciati, Massimo;
Costa, Elisa;
Santangelo, Andrea;
Astrea, Guja;
Frosini, Silvia;
Pasquariello, Rosa;
Rubegni, Anna;
Sgherri, Giada;
Corsi, Martina;
Bonuccelli, Alice;
Battini, Roberta

Publication type:

Article

Progressive Degenerative Myopathy and Myosteatosis in ASNSD1-Deficient Mice.

Published in:

Veterinary Pathology, 2020, v. 57, n. 5, p. 723, doi. 10.1177/0300985820939251

By:

Vogel, Peter;
Ding, Zhi-Ming;
Read, Robert;
DaCosta, Christopher M.;
Hansard, Melissa;
Small, Daniel L.;
Ye, Gui-lan;
Hansen, Gwenn;
Brommage, Robert;
Powell, David R.

Publication type:

Article

Elevated Expression of ADAM10 in Skeletal Muscle of Patients with Idiopathic Inflammatory Myopathies Could Be Responsible for FNDC5/Irisin Unbalance.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2469, doi. 10.3390/ijms24032469

By:

Zerlotin, Roberta;
Fornaro, Marco;
Errede, Mariella;
Pignataro, Patrizia;
Suriano, Clelia;
Ruggieri, Maddalena;
Colucci, Silvia;
Iannone, Florenzo;
Grano, Maria;
Colaianni, Graziana

Publication type:

Article

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11995, doi. 10.3390/ijms231911995

By:

Gurgel-Giannetti, Juliana;
Souza, Lucas Santos;
Yamamoto, Guilherme L.;
Belisario, Marina;
Lazar, Monize;
Campos, Wilson;
Pavanello, Rita de Cassia M.;
Zatz, Mayana;
Reed, Umbertina;
Zanoteli, Edmar;
Oliveira, Acary Bulle;
Lehtokari, Vilma-Lotta;
Casella, Erasmo B.;
Machado-Costa, Marcela C.;
Wallgren-Pettersson, Carina;
Laing, Nigel G.;
Nigro, Vincenzo;
Vainzof, Mariz

Publication type:

Article

Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 21, p. 11377, doi. 10.3390/ijms222111377

By:

Gómez-Oca, Raquel;
Cowling, Belinda S.;
Laporte, Jocelyn

Publication type:

Article

A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report.

Published in:

2023

By:

Chen, Zhiyong;
Saini, Monica;
Koh, Jasmine Shimin;
Lim, Gareth Zigui;
Dang, Nancy Jiaojiao;
Prasad, Kalpana;
Koh, Swee Hoon;
Tay, Karine Su Shan;
Lee, Ming;
Ong, Helen Lisa;
Zhao, Yi;
Tandon, Ankit;
Chai, Josiah Yui Huei

Publication type:

Case Study

Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report.

Published in:

2023

By:

Landim, João Igor Dantas;
Ribeiro, Ian Silva;
Oliveira, Eduardo Braga;
Freitas, Hermany Capistrano;
Brito, Lara Albuquerque;
Maia, Isaac Holanda Mendes;
Távora, Daniel Gurgel Fernandes;
Rodrigues, Cleonisio Leite

Publication type:

Case Study

Bethlem myopathy: a series of 16 patients and description of seven new associated mutations.

Published in:

Journal of Neurology, 2019, v. 266, n. 4, p. 934, doi. 10.1007/s00415-019-09217-z

By:

Panadés-de Oliveira, Luísa;
Rodríguez-López, Claudia;
Cantero Montenegro, Diana;
Marcos Toledano, María del Mar;
Fernández-Marmiesse, Ana;
Esteban Pérez, Jesús;
Hernández Lain, Aurelio;
Domínguez-González, Cristina

Publication type:

Article

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations.

Published in:

Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01353-0

By:

de Feraudy, Yvan;
Vandroux, Marie;
Romero, Norma Beatriz;
Schneider, Raphaël;
Saker, Safaa;
Boland, Anne;
Deleuze, Jean-François;
Biancalana, Valérie;
Böhm, Johann;
Laporte, Jocelyn

Publication type:

Article

Treatment‐responsive glycogen storage myopathy in a patient with POEMS syndrome: A new monoclonal gammopathy‐associated myopathy.

Published in:

European Journal of Neurology, 2023, v. 30, n. 10, p. 3404, doi. 10.1111/ene.16008

By:

Soontrapa, Pannathat;
Tracy, Jennifer A.;
Gonsalves, Wilson I.;
Liewluck, Teerin

Publication type:

Article

Nemaline myopathies: a current view.

Published in:

Journal of Muscle Research & Cell Motility, 2019, v. 40, n. 2, p. 111, doi. 10.1007/s10974-019-09519-9

By:

Sewry, Caroline A.;
Laitila, Jenni M.;
Wallgren-Pettersson, Carina

Publication type:

Article

Pacient s myopatií v ordinaci praktického lékaře.

Published in:

Medicina Pro Praxi, 2022, v. 19, n. 4, p. 245, doi. 10.36290/med.2022.037

By:

Junkerová, Jana;
Kovalová, Eva

Publication type:

Article

Sporadic late onset nemaline myopathy (SLONM) in an adult presenting with progressive muscle weakness.

Published in:

European Journal of Rheumatology, 2019, v. 6, n. 2, p. 105, doi. 10.5152/eurjrheum.2018.18071

By:

Paramalingam, Shereen;
Dyke, Jason M.;
Nossent, Johannes C.

Publication type:

Article

Sporadic late onset nemaline myopathy (SLONM) in an adult presenting with progressive muscle weakness.

Published in:

European Journal of Rheumatology, 2019, v. 6, n. 1, p. 1, doi. 10.5152/eurjrheum.2018.18071

By:

Paramalingam, Shereen;
Dyke, Jason M.;
Nossent, Johannes C.

Publication type:

Article

68-year old man with progressive weakness and ventilator dependent respiratory failure: a case report of sporadic late onset nemaline myopathy.

Published in:

2022

By:

Kirupaharan, Pradhab;
Kramer, Daniel;
Gandler, Alan;
Kenyon, Lawrence;
Summer, Ross

Publication type:

journal article

A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report.

Published in:

2019

By:

Chen, Juanjuan;
Wu, Jun;
Han, Chunxi;
Li, Yao;
Guo, Yuzu;
Tong, Xiaoxin

Publication type:

journal article

Spectrum of congenital myopathies: A single centre experience.

Published in:

Neurology India, 2013, v. 61, n. 3, p. 254, doi. 10.4103/0028-3886.115064

By:

Uppin, Megha S.;
A. K., Meena;
Sundaram, Challa

Publication type:

Article

Whole-body MRI and pathological findings in adult patients with myopathies.

Published in:

2019

By:

Tomas, Xavier;
Milisenda, Jose Cesar;
Garcia-Diez, Ana Isabel;
Prieto-Gonzalez, Sergio;
Faruch, Marie;
Pomes, Jaime;
Grau-Junyent, Josep Maria

Publication type:

journal article

Case Report: Monoclonal Gammopathies of Clinical Significance-Associated Myopathy: A Case-Based Review.

Published in:

Frontiers in Oncology, 2022, v. 12, p. 1, doi. 10.3389/fonc.2022.914379

By:

Hongbin Yu;
Du He;
Qing Zhang;
Bei Cao;
Weiping Liu;
Yu Wu

Publication type:

Article

A case of giant dental calculus in a patient with centronuclear myopathy.

Published in:

2023

By:

Iwama, Ryosuke;
Nagai, Hirokazu;
Suzuki, Naoki;
Izumi, Rumiko;
Kumamoto, Hiroyuki;
Takahashi, Tetsu

Publication type:

Case Study

Myofibrillar myopathies due to a novel mutation in exon 8 of the LDB3 gene.

Published in:

International Journal of Rheumatic Diseases, 2024, v. 27, n. 2, p. 1, doi. 10.1111/1756-185X.15036

By:

Du, Hongjia;
Chen, Yan;
Zeng, Li;
Wu, Rui;
Wu, Tong;
Zhu, Jing

Publication type:

Article

The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.

Published in:

Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1768, doi. 10.1093/brain/awad410

By:

Zibold, Julia;
Lessard, Lola E R;
Picard, Flavien;
Silva, Lara Gruijs da;
Zadorozhna, Yelyzaveta;
Streichenberger, Nathalie;
Belotti, Edwige;
Osseni, Alexis;
Emerit, Andréa;
Errazuriz-Cerda, Elisabeth;
Michel-Calemard, Laurence;
Menassa, Rita;
Coudert, Laurent;
Wiessner, Manuela;
Stucka, Rolf;
Klopstock, Thomas;
Simonetti, Francesca;
Hutten, Saskia;
Nonaka, Takashi;
Hasegawa, Masato

Publication type:

Article

Tamoxifen improves muscle structure and function of Bin1- and Dnm2-related centronuclear myopathies.

Published in:

Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 3029, doi. 10.1093/brain/awac489

By:

Gineste, Charlotte;
Simon, Alix;
Braun, Marie;
Reiss, David;
Laporte, Jocelyn

Publication type:

Article

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 494, doi. 10.1093/brain/aws348

By:

Mokbel, Nancy;
Ilkovski, Biljana;
Kreissl, Michaela;
Memo, Massimiliano;
Jeffries, Cy M.;
Marttila, Minttu;
Lehtokari, Vilma-Lotta;
Lemola, Elina;
Grönholm, Mikaela;
Yang, Nan;
Menard, Dominique;
Marcorelles, Pascale;
Echaniz-Laguna, Andoni;
Reimann, Jens;
Vainzof, Mariz;
Monnier, Nicole;
Ravenscroft, Gianina;
McNamara, Elyshia;
Nowak, Kristen J.;
Laing, Nigel G.

Publication type:

Article

A Clinical Study on the Utility of Muscle Biopsy in Patients with Suspected Myopathy.

Published in:

Annals of Indian Academy of Neurology, 2025, v. 28, n. 3, p. 363, doi. 10.4103/aian.aian_934_24

By:

Karunakaran, Sudhakar;
Kuruvilla, Abraham;
Nair, Muralidharan;
Nair, Sruthi S;
Narasimhaiah, Deepti

Publication type:

Article

Collagen Ⅵ‐related myopathy with subacute presentation of hypercapnic respiratory failure following pneumonia.

Published in:

Neurology & Clinical Neuroscience, 2020, v. 8, n. 5, p. 320, doi. 10.1111/ncn3.12418

By:

Kinboshi, Masato;
Nakaoka, Hiroshi;
Morimoto, Yuko;
Yoshida, Takeshi;
Kuzume, Daisuke;
Shiraga, Minoru;
Ishida, Masayuki;
Yamasaki, Masahiro;
Saito, Yoshihiko;
Nishino, Ichizo

Publication type:

Article

α‐tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy.

Published in:

Clinical Case Reports, 2021, v. 9, n. 3, p. 1672, doi. 10.1002/ccr3.3866

By:

Almobarak, Sulaiman;
Hu, Jonathan;
Langdon, Kristopher D.;
Ang, Lee‐Cyn;
Campbell, Craig

Publication type:

Article

Chloroquine and Hydroxychloroquine Myopathy: Clinical Spectrum and Treatment Outcomes.

Published in:

Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.616075

By:

Naddaf, Elie;
Paul, Pritikanta;
AbouEzzeddine, Omar F.

Publication type:

Article

Novel Desmin Mutation Causing Myofibrillar Myopathy in a Hmong Family.

Published in:

Frontiers in Neurology, 2020, v. 10, p. 1, doi. 10.3389/fneur.2019.01375

By:

Nicolau, Stefan;
Howe, Benjamin M.;
Naddaf, Elie

Publication type:

Article

A Childhood Inflammatory Myopathy with Cytochrome Oxidase Deficiency: Which Came First, the Chicken or the Egg?

Published in:

Journal of Behcet Uz Children's Hospital, 2023, v. 13, n. 3, p. 198, doi. 10.4274/jbuch.galenos.2023.45556

By:

Diniz, Gülden;
Yavaşcan, Önder;
Şarkış, Ümit Başak;
Yıldırım, Zübeyde;
Alparslan, Caner;
Öztürk, Can;
Berdeli, Afig

Publication type:

Article

Mitochondrial myopathies diagnosed in adulthood: clinico-genetic spectrum and long-term outcomes.

Published in:

Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae041

By:

Beecher, Grayson;
Gavrilova, Ralitza H;
Mandrekar, Jay;
Naddaf, Elie

Publication type:

Article

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy.

Published in:

Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01017-1

By:

Clayton, Joshua S.;
McNamara, Elyshia L.;
Goullee, Hayley;
Conijn, Stefan;
Muthsam, Keren;
Musk, Gabrielle C.;
Coote, David;
Kijas, James;
Testa, Alison C.;
Taylor, Rhonda L.;
O'Hara, Amanda J.;
Groth, David;
Ottenheijm, Coen;
Ravenscroft, Gianina;
Laing, Nigel G.;
Nowak, Kristen J.

Publication type:

Article

Oculopharyngodistal myopathy with coexisting histology of systemic neuronal intranuclear inclusion disease: Clinicopathologic features of an autopsied patient harboring CGG repeat expansions in LRP12.

Published in:

2020

By:

Saito, Rie;
Shimizu, Hiroshi;
Miura, Takeshi;
Hara, Norikazu;
Mezaki, Naomi;
Higuchi, Yo;
Miyashita, Akinori;
Kawachi, Izumi;
Sanpei, Kazuhiro;
Honma, Yoshiaki;
Onodera, Osamu;
Ikeuchi, Takeshi;
Kakita, Akiyoshi

Publication type:

Letter

KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report.

Published in:

Genes, 2024, v. 15, n. 2, p. 208, doi. 10.3390/genes15020208

By:

Buchignani, Bianca;
Marinella, Gemma;
Pasquariello, Rosa;
Sgherri, Giada;
Frosini, Silvia;
Santorelli, Filippo Maria;
Orsini, Alessandro;
Battini, Roberta;
Astrea, Guja

Publication type:

Article

Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data.

Published in:

Journal of Child Neurology, 2022, v. 37, n. 7, p. 652, doi. 10.1177/08830738221096316

By:

Christophers, Briana;
Lopez, Michael A.;
Gupta, Vandana A.;
Vogel, Hannes;
Baylies, Mary

Publication type:

Article