المؤلفون: van Kleef, Esmee S.B.¹ (AUTHOR), van de Camp, Sanne A.J.H.¹ (AUTHOR), Groothuis, Jan T.² (AUTHOR), Erasmus, Corrie E.³ (AUTHOR), Gaytant, Michael A.⁴ (AUTHOR), Vosse, Bettine A.H.⁵ (AUTHOR), de Weerd, Willemien⁶ (AUTHOR), Verschuuren-Bemelmans, Corien C.⁷ (AUTHOR), Medici-Van den Herik, Evita G.⁸ (AUTHOR), Wallgren-Pettersson, Carina^9,10 (AUTHOR), Küsters, Benno¹¹ (AUTHOR), Schouten, Meyke¹² (AUTHOR), van Engelen, Baziel G.M.¹ (AUTHOR), Ottenheijm, Coen A.C.¹³ (AUTHOR), Doorduin, Jonne¹ (AUTHOR), Voermans, Nicol C.¹ (AUTHOR) Nicol.Voermans@radboudumc.nl

المصدر: Neuromuscular Disorders. Oct2024, Vol. 43, p29-38. 10p.

مصطلحات موضوعية: *NEMALINE myopathy, *MUSCLE weakness, *RESPIRATORY muscles, *SPINE abnormalities, *TUBE feeding

المؤلفون: de Feraudy, Yvan^1,2,3 (AUTHOR), Vandroux, Marie¹ (AUTHOR), Romero, Norma Beatriz⁴ (AUTHOR), Schneider, Raphaël¹ (AUTHOR), Saker, Safaa⁵ (AUTHOR), Boland, Anne⁶ (AUTHOR), Deleuze, Jean-François⁶ (AUTHOR), Biancalana, Valérie^1,7 (AUTHOR), Böhm, Johann¹ (AUTHOR), Laporte, Jocelyn¹ (AUTHOR) jocelyn@igbmc.fr

المصدر: Genome Medicine. 7/9/2024, Vol. 16 Issue 1, p1-15. 15p.

مصطلحات موضوعية: *MUSCLE diseases, *NEMALINE myopathy, *GENETIC disorders, *GENETIC counseling, *PATIENT autonomy, *EXOMES

المؤلفون: Yoshioka, Wakako¹ (AUTHOR), Nakamura, Harumasa² (AUTHOR), Oba, Mari³ (AUTHOR), Saito, Yoshihiko¹ (AUTHOR), Nishino, Ichizo¹ (AUTHOR), Mori-Yoshimura, Madoka⁴ (AUTHOR) yoshimur@ncnp.go.jp

المصدر: Journal of Neurology. Jul2024, Vol. 271 Issue 7, p4453-4461. 9p.

مصطلحات موضوعية: *NEMALINE myopathy, *MUSCLE diseases, *GENOTYPES, *PHENOTYPES, *DISEASE duration, *JAPANESE people

مصطلحات جغرافية: JAPAN

المؤلفون: Etarhuni, Samira¹ (AUTHOR) samiraracd@yahoo.com, Kara, Majdi² (AUTHOR), Alghazir, Nadia³ (AUTHOR)

المصدر: Ibnosina Journal of Medicine & Biomedical Sciences. Jun2024, Vol. 16 Issue 2, p77-84. 8p.

مصطلحات موضوعية: *GENETIC mutation, *NEMALINE myopathy, *MALIGNANT hyperthermia, *DELAYED diagnosis, *GENETIC counseling, *CRYPTORCHISM

المؤلفون: Almomen, Momen¹ (AUTHOR) momenma@moh.gov.sa, Burgon, Patrick G.² (AUTHOR)

المصدر: Neuropediatrics. Jun2024, Vol. 55 Issue 3, p149-155. 7p.

مصطلحات موضوعية: *MALIGNANT hyperthermia, *NEMALINE myopathy, *NATIVE Americans, *RESEARCH personnel, *MUSCLE diseases, *MUSCLE weakness, *CLEFT palate

المؤلفون: Narwal, Anubhav¹ (AUTHOR), Mann, Mohit² (AUTHOR), Srivastava, Achal K² (AUTHOR), Sharma, Mehar C¹ (AUTHOR) sharmamehar@yahoo.co.in

المصدر: Neurology India. Nov/Dec2024, Vol. 72 Issue 6, p1270-1272. 3p.

مصطلحات موضوعية: *NEMALINE myopathy, *MUSCLE weakness, *MUSCULAR atrophy, *TREATMENT failure, *MUSCLE diseases

المؤلفون: Buvoli, Massimo^1,2, Wilson, Genevieve C. K.^1,2, Buvoli, Ada^1,2, Gugel, Jack F.^1,2, Hau, Abbi^3,4, Bönnemann, Carsten G.⁵, Paradas, Carmen⁶, Ryba, David M.⁷, Woulfe, Kathleen C.⁸, Walker, Lori A.⁸, Buvoli, Tommaso⁹, Ochala, Julien^3,4,10, Leinwand, Leslie A.^1,2 Leslie.Leinwand@colorado.edu

المصدر: Journal of Clinical Investigation. 5/1/2024, Issue 9, p1-15. 15p.

مصطلحات موضوعية: *NEMALINE myopathy, *MYOSIN, *ORAL drug administration, *PROLINE, *STRUCTURAL rods, *SMALL molecules

المؤلفون: Zhong, Huahua¹ (AUTHOR) huatwofold@outlook.com, Sian, Veronica² (AUTHOR), Johari, Mridul^3,4 (AUTHOR), Katayama, Shintaro^3,5 (AUTHOR), Oghabian, Ali^3,6 (AUTHOR), Jonson, Per Harald³ (AUTHOR), Hackman, Peter³ (AUTHOR), Savarese, Marco³ (AUTHOR), Udd, Bjarne^3,7 (AUTHOR)

المصدر: Communications Biology. 4/10/2024, Vol. 7 Issue 1, p1-9. 9p.

مصطلحات موضوعية: *INCLUSION body myositis, *NEMALINE myopathy, *MUSCLE diseases, *TRINUCLEOTIDE repeats, *SKELETAL muscle, *MAGNETIC resonance imaging, *POLYMERASE chain reaction

المؤلفون: Hermes, Túlio de Almeida¹ (AUTHOR) tulio.ah13@gmail.com, Fratini, Paula² (AUTHOR), Nascimento, Beatriz Godinho¹ (AUTHOR), Ferreira, Laís Leite¹ (AUTHOR), Petri, Giuliana² (AUTHOR), Fonseca, Fernando Luiz Affonso³ (AUTHOR), Carvalho, Alzira Alves de Siqueira⁴ (AUTHOR), Feder, David² (AUTHOR)

المصدر: International Journal of Experimental Pathology. Apr2024, Vol. 105 Issue 2, p75-85. 11p.

مصطلحات موضوعية: *DUCHENNE muscular dystrophy, *NEMALINE myopathy, *TIBIALIS anterior, *LABORATORY mice, *ANIMAL disease models, *MUSCLE strength, *CREATINE kinase

المؤلفون: Benucci, Sofia¹, Ruiz, Alexis¹, Franchini, Martina¹, Ruggiero, Lucia², Zoppi, Dario², Sitsapesan, Rebecca³, Lindsay, Chris³, Pelczar, Pawel⁴, Pietrangelo, Laura⁵, Protasi, Feliciano⁵, Treves, Susan^1,6, Zorzato, Francesco^1,6 fzorzato@usb.ch

المصدر: Journal of General Physiology. Apr2024, Vol. 156 Issue 4, p1-18. 21p.

مصطلحات موضوعية: *NEMALINE myopathy, *CALCIUM, *GENETIC mutation, *TRANSGENIC mice, *HOMEOSTASIS, *MICE

المؤلفون: Galli, Ricardo A.^1,2 c.ottenheijm@amsterdamumc.nl, Borsboom, Tamara C.¹, Gineste, Charlotte³, Brocca, Lorenza⁴, Rossi, Maira⁴, Hwee, Darren T.⁵, Malik, Fady I.⁵, Bottinelli, Roberto^4,6, Gondin, Julien^3,7, Pellegrino, Maria-Antonietta⁴, de Winter, Josine M.^1,2,8, Ottenheijm, Coen A. C.^1,9,10

المصدر: Journal of General Physiology. Apr2024, Vol. 156 Issue 4, p1-21. 22p.

مصطلحات موضوعية: *NEMALINE myopathy, *LABORATORY mice, *ANIMAL disease models, *MUSCLE weakness, *RESPIRATORY muscles, *SKELETAL muscle, *RESPIRATORY insufficiency

المؤلفون: Bryson, Victoria^1,2, Wang, Chaojian^1,2, Zirui Zhou², Singh, Kavisha², Volin, Noah², Yildirim, Eda^3,4, Rosenberg, Paul^1,2,5 paul.rosenberg@duke.edu

المصدر: Journal of Clinical Investigation. 4/1/2024, Vol. 134 Issue 7, p1-15. 15p.

مصطلحات موضوعية: *NUCLEAR membranes, *NEMALINE myopathy, *MUSCLE weakness, *MUSCLE mass, *MUSCULAR atrophy, *MUSCLE diseases, *GAIN-of-function mutations

المؤلفون: Nóbrega, Paulo Ribeiro^1,2,3 (AUTHOR) paulo_r_med@yahoo.com.br, de Brito de Souza, Jorge Luiz⁴ (AUTHOR), Maurício, Rebeca Bessa⁴ (AUTHOR), de Paiva, Anderson Rodrigues Brandão^2,5 (AUTHOR), Dias, Daniel Aguiar⁶ (AUTHOR), Camelo, Clara Gontijo² (AUTHOR), Zanotelli, Edmar² (AUTHOR), Schlesinger, David⁵ (AUTHOR), Braga-Neto, Pedro^1,4 (AUTHOR), Moreno, Cristiane Araujo Martins^2,5 (AUTHOR)

المصدر: Neurological Sciences. Mar2024, Vol. 45 Issue 3, p1225-1231. 7p.

مصطلحات موضوعية: *NEMALINE myopathy, *DAS-Naglieri Cognitive Assessment System, *CENTRAL nervous system, *CORPUS callosum, *AUTISM spectrum disorders

المؤلفون: Intriago, Pablo, Montiel, Bolivar, Valarezo, Mauricio, Arteaga, Kelly, Romero, Xavier, Montenegro, Alejandra, Bailey, Christyn

المصدر: Aquaculture Research; 12/30/2024, Vol. 2024, p1-18, 18p

مصطلحات موضوعية: WHITELEG shrimp, BACTERIAL cells, POLYMERASE chain reaction, BLOOD cells, SHRIMPS, VIBRIO parahaemolyticus, NEMALINE myopathy

المؤلفون: Chao Liu^1,2,3, Karabina, Anastasia^4,5,6, Meller, Artur^7,8, Bhattacharjee, Ayan⁹, Agostino, Colby J.⁹, Bowman, Greg R.⁹, Ruppel, Kathleen M.^1,2,6, Spudich, James A.^1,2,6, Leinwand, Leslie A.^4,5 leslie.leinwand@colorado.edu

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 2/27/2024, Vol. 121 Issue 9, p1-12. 39p.

مصطلحات موضوعية: *MYOSIN, *NEMALINE myopathy, *SINGLE molecules, *OPTICAL tweezers, *MOLECULAR dynamics, *HYPERTROPHIC cardiomyopathy

المؤلفون: Decio, Alice¹ (AUTHOR) alice.decio@lanostrafamiglia.it, Giorda, Roberto² (AUTHOR), Panzeri, Elena² (AUTHOR), Bassi, Maria Teresa² (AUTHOR), D'Angelo, Maria Grazia¹ (AUTHOR)

المصدر: Neurological Sciences. Feb2024, Vol. 45 Issue 2, p819-823. 5p.

مصطلحات موضوعية: *NEMALINE myopathy, *NUCLEOTIDE sequencing, *MUSCLE diseases, *PHENOTYPES, *SPINAL muscular atrophy, *DIAGNOSIS

المؤلفون: Buchignani, Bianca^1,2 (AUTHOR) bianca.buchignani@fsm.unipi.it, Marinella, Gemma¹ (AUTHOR) gemma.marinella@fsm.unipi.it, Pasquariello, Rosa¹ (AUTHOR) rosa.pasquariello@fsm.unipi.it, Sgherri, Giada¹ (AUTHOR) giada.sgherri@fsm.unipi.it, Frosini, Silvia¹ (AUTHOR) silvia.frosini@fsm.unipi.it, Santorelli, Filippo Maria³ (AUTHOR) filippomaria.santorelli@fsm.unipi.it, Orsini, Alessandro⁴ (AUTHOR) aorsini.md@gmail.com, Battini, Roberta^1,5 (AUTHOR) guja.astrea@fsm.unipi.it, Astrea, Guja¹ (AUTHOR)

المصدر: Genes. Feb2024, Vol. 15 Issue 2, p208. 13p.

مصطلحات موضوعية: *NEMALINE myopathy, *MUSCLE diseases, *NATURAL history, *GENE therapy, *DISEASE progression

المؤلفون: Du, Hongjia^1,2 (AUTHOR), Chen, Yan^1,3 (AUTHOR), Zeng, Li⁴ (AUTHOR), Wu, Rui^1,3 (AUTHOR), Wu, Tong^1,3 (AUTHOR) wmenu@sina.com, Zhu, Jing^1,3 (AUTHOR) zhujingys@sina.com

المصدر: International Journal of Rheumatic Diseases. Feb2024, Vol. 27 Issue 2, p1-5. 5p.

مصطلحات موضوعية: *MUSCLE diseases, *NEMALINE myopathy, *MYOCARDIUM, *CELLULAR inclusions, *GENETIC testing, *GENETIC mutation

المؤلفون: Marcello, Matteo¹, Cetrangolo, Viviana^1,2, Morotti, Ilaria¹, Squarci, Caterina¹, Caremani, Marco¹, Reconditi, Massimo¹, Savarese, Marco³, Bianco, Pasquale¹, Piazzesi, Gabriella¹, Lombardi, Vincenzo¹, Udd, Bjarne³, Conte, Ivan^2,4, Nigro, Vincenzo^2,5, Linari, Marco¹ marco.linari@unifi.it

المصدر: American Journal of Physiology: Cell Physiology. Feb2024, Vol. 326 Issue 2, pC632-C644. 13p.

مصطلحات موضوعية: *NEMALINE myopathy, *ORYZIAS latipes, *SKELETAL muscle, *FISH larvae, *DEVELOPMENTAL biology, *DEVELOPMENTAL genetics, *TRANSMISSION electron microscopy, *ELECTRIC stimulation

المؤلفون: Wallgren-Pettersson, Carina¹ (AUTHOR) carina.wallgren@helsinki.fi, Jokela, Manu² (AUTHOR), Lehtokari, Vilma-Lotta¹ (AUTHOR), Tyynismaa, Henna³ (AUTHOR), Sainio, Markus T⁴ (AUTHOR), Ylikallio, Emil⁴ (AUTHOR), Tynninen, Olli⁵ (AUTHOR), Pelin, Katarina^1,6 (AUTHOR), Auranen, Mari⁴ (AUTHOR)

المصدر: Neuromuscular Disorders. Feb2024, Vol. 35, p29-32. 4p.

مصطلحات موضوعية: *NEMALINE myopathy, *TROPOMYOSINS, *MUSCLE weakness, *MUSCLE hypotonia, *MUSCLE tone, *FINGER joint, *THUMB