Page last updated: 2024-08-18

tecnazene and Myopathies, Nemaline

tecnazene has been researched along with Myopathies, Nemaline in 90 studies

Research

Studies (90)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	3 (3.33)	18.2507
2000's	24 (26.67)	29.6817
2010's	49 (54.44)	24.3611
2020's	14 (15.56)	2.80

Authors

Authors	Studies
Gautel, M; Grange, M; Kho, AL; Pospich, S; Raunser, S; Wagner, T; Wang, Z	1
Kiiski, K; Lehtokari, VL; Pelin, K; Sagath, L; Wallgren-Pettersson, C	1
Auranen, M; Beck, TN; Claeys, KG; Dugdale, HF; Fiorillo, C; Granzier, H; Huovinen, S; Jokela, M; Kolb, JS; Kontrogianni-Konstantopoulos, A; Laitila, J; Mariano, J; Moggio, M; Ochala, J; Palmio, J; Ranu, N; Tasca, G; Vilchez, JJ; Vissing, J; Voermans, NC; Wallgren-Pettersson, C; Witting, N; Zanoteli, E	1
Casey, JG; Granzier, H; Gupta, VA; Joseph, R; Kim, ES; Li, F	1
Beatka, MJ; Geurts, AM; Granzier, H; Heisner, J; Hill, RB; Lawlor, MW; Meng, H; Montanaro, F; Ott, E; Prom, MJ; Slick, RA; Stowe, DF; Sutton, J; Tinklenberg, JA; Toro, R; Vanden Avond, M; Zhang, L	1
Granzier, HL; Hwee, DT; Kolb, J; Lee, EJ; Malik, FI	1
Chang, X; Guo, J; Wen, Q	1
Granzier, H; Karimi, E; Kolb, J; Lee, EJ; Lindqvist, J	1
Bendahan, D; Bernard, M; Gineste, C; Gondin, J; Granzier, H; Hourani, Z; Ogier, AC; Varlet, I	1
Chamberlain, JS; Crudele, J; Granzier, H; Hourani, Z; Kolb, J; Li, F; Smith, JE; Tonino, P	1
Gai, Z; Guan, J; Li, X; Li, Y; Liu, Y; Lv, Y; Ma, Y; Yang, X; Zhang, H	1
Bakker, AJ; Clayton, JS; Goullee, H; Griffiths, LM; Harries, R; Laing, NG; Laitila, JM; Lawlor, MW; McNamara, EL; Nowak, KJ; Ochala, J; Ottenheijm, CAC; Pelin, K; Ravenscroft, G; Ross, JA; Sewry, C; Taylor, RL; van der Pijl, R; Wallgren-Pettersson, C; Wingate, CD	1
Chang, X; Hu, Z; Lv, H; Wang, Q; Wang, Z; Xie, Z; Xiong, H; Yu, M; Yuan, Y; Zhang, W	1
Gong, H; Granzier, H; Hernandez, Y; Hourani, Z; Irving, T; Karimi, E; Kiss, B; Kolb, J; Li, F; Lindqvist, J; Ma, W; Ottenheijm, C; Smith, JE; Strom, J; Tonino, P; van der Pijl, R	1
Chaoui, R; Dittmayer, C; Englert, B; Goebel, HH; Korinth, D; Pelin, K; Rocha, ML; Rossi, R; Schlembach, D; Schmid, S; Schuelke, M; Stenzel, W; Suk, EK; Uruha, A	1
Acker, M; Amburgey, K; Amin, R; Beggs, AH; Bönnemann, CG; Brudno, M; Constantinescu, A; Dastgir, J; Diallo, M; Dowling, JJ; Genetti, CA; Glueck, M; Hewson, S; Hum, C; Jain, MS; Lawlor, MW; Meyer, OH; Nelson, L; Saeed, S; Sultanum, N; Syed, F; Tran, T; Wang, CH	1
Bassel-Duby, R; Bezprozvannaya, S; Cenik, BK; Chen, B; Liu, N; Olson, EN; Ramirez-Martinez, A	1
Mizuno, Y; Mori-Yoshimura, M; Nishikawa, A; Nishino, I; Oya, Y; Takahashi, Y	1
Kim, DS; Lee, JM; Lim, JG; Park, YE; Shin, JH	1
Kim, DS; Kim, HS; Lee, CH; Park, YE; Shin, JH	1
Bryson-Richardson, RJ; McKaige, EA; Oorschot, V; Ramm, G; Sztal, TE; Williams, C	1
Bozoglu, T; Brunn, A; Cirak, S; Daimagüler, HS; Fink, GR; Lehmann, HC; Weis, J; Wunderlich, G	1
Alkanaq, AN; Ando, Y; Fujita, A; Hamanaka, K; Iida, A; Imagawa, E; Iwama, K; Koshimizu, E; Matsumoto, N; Misumi, Y; Mitsuhashi, S; Miyake, N; Miyatake, S; Mizuguchi, T; Nakashima, M; Nishino, I; Okubo, M; Saitsu, H; Takata, A; Tawara, N; Tsurusaki, Y; Uchiyama, Y	1
Aller, E; Aparisi, MJ; Calabria, I; Cardona-Gay, C; Cervera, JV; Gonzalez-Tarancon, L; Martinez-Matilla, M; Millan, JM; Moreau-Le Lan, S; Muelas, N; Pedrola, L; Pitarch, I; Sagath, L; Selles, J	1
Ayres, S; Beatka, MJ; Fickau, BA; Granzier, HL; Lawlor, MW; Meng, H; Siebers, EM; Simpson, P; Tinklenberg, JA; Yang, L	1
Evilä, AE; Hackman, PB; Huovinen, S; Kiiski, KJ; Laitila, JM; Lehtokari, VL; Paetau, AE; Pelin, KB; Sagath, LJ; Sewry, CA; Udd, B; Vihola, AK; Wallgren-Pettersson, C	1
Barton, ER; Granzier, H; Li, F	1
Abdel-Hamid, HZ; Al-Ghamdi, F; Beggs, AH; Lacomis, D; Marttila, M; Win, W	1
Laitila, JM; Sewry, CA; Wallgren-Pettersson, C	1
Beggs, AH; Buck, D; Clarke, NF; de Winter, JM; Granzier, H; Hidalgo, C; Jasper, JR; Lawlor, MW; Malik, FI; Ottenheijm, CA; Stienen, GJ	1
Beggs, AH; Buck, D; de Winter, JM; Ferrara, C; Granzier, H; Jasper, JR; Labeit, S; Lawlor, MW; Malik, FI; Meng, H; Ottenheijm, CA; Piroddi, N; Poggesi, C; Stienen, GJ; Tesi, C	1
Bang, ML; Camerini, S; Castaldi, A; Chen, J; Coulis, G; Crescenzi, M; Eggenhuizen, PJ; Endo, T; Filomena, MC; Gokhin, DS; Kunderfranco, P; Lieber, RL; Luther, PK; Piaser, F; Takano, K; Vitiello, C; Yamamoto, DL; Zhang, J	1
Farkas, K; Gajda, A; Gergev, G; Hortobágyi, T; Horváth, E; Nagy, N; Szabó, H; Széll, M; Sztriha, L	1
Bellance, R; Böhm, J; De Winter, JM; Estournet, B; Eymard, B; Fardeau, M; Laporte, J; Lehtokari, VL; Lubieniecki, F; Madelaine, A; Malfatti, E; Monges, S; Ottenheijm, CA; Pelin, K; Quijano-Roy, S; Romero, NB; Schäffer, U; Taratuto, AL; Viou, MT; Wallgren-Pettersson, C; Wu, B	1
Bassel-Duby, R; Beetz, N; Bezprozvannaya, S; Chen, S; Doering, J; Garg, A; Grange, RW; Laing, NG; Li, L; Long, C; Nelson, BR; O'Rourke, J; Olson, EN; Ravenscroft, G	1
MacKenzie, JJ; Piteau, SJ; Rossiter, JP; Smith, RG	1
Fernandes, I; Schöck, F	1
Davis, MR; Laing, NG; Lamont, PJ; Nowak, KJ; Wallgren-Pettersson, C	1
Claeys, KG; Dekomien, G; Güttsches, AK; Huebner, A; Kirschner, J; Kley, RA; von der Hagen, M; Vorgerd, M	1
Birch, C; Buck, D; De Winter, J; Escobar, YN; Granzier, HL; Kolb, J; Konhilas, J; Lawlor, MW; Li, F; Meng, H; Ottenheijm, C; Slater, R; Smith, JE; Yang, L	1
Ahlstén, L; Kiiski, K; Laitila, J; Lehtokari, VL; Löytynoja, A; Pelin, K; Wallgren-Pettersson, C	1
Dyment, DA; Ennis, J; McMillan, HJ; Michaud, J	1
Kang, B; Kim, DS; Lee, CH; Park, YE; Shin, JH	1
Bertini, E; Bresolin, N; Bruno, C; Cassandrini, D; Colombo, I; Comi, GP; Corti, S; D'Amico, A; Fattori, F; Fiorillo, C; Giugliano, T; Magri, F; Mercuri, E; Messina, S; Moggio, M; Mora, M; Moroni, I; Nigro, V; Pane, M; Piga, D; Ronchi, D; Tasca, G; Toscano, A	1
Casal, ML; Clark, LA; Cox, ML; Evans, JM; Gaitero, L; Granzier, HL; Guo, LT; Huska, J; Li, F; Shelton, GD	1
Dumevska, B; Goel, D; Main, H; McKernan, R; Schmidt, U	1
Dumevska, B; Goel, D; McKernan, R; Schmidt, U	2
de Winter, JM; Granzier, H; Joureau, B; Ottenheijm, CA; Stam, K	1
Abe, K; Hishikawa, N; Motokura, E; Nishikawa, A; Nishino, I; Ohta, Y; Sato, K; Takahashi, Y; Takemoto, M; Tsunoda, K; Yamashita, T	1
Pelin, K; Wallgren-Pettersson, C	1
Dubowitz, V	1
Beggs, AH; DeChene, ET; Greenleaf, RS; Kellinsalmi, M; Laing, NG; Lehtokari, VL; Pelin, K; Wallgren-Pettersson, C	1
Bang, ML; Chen, J; Gokhin, DS; Lieber, RL; Zhang, J	1
Beggs, AH; Granzier, H; Labeit, S; Ottenheijm, CA; Stienen, GJ; Witt, CC	1
Emery, A	1
Barois, A; Carlier, RY; Claeys, KG; Fardeau, M; Laing, NG; Lehtokari, VL; Lunardi, J; Monnier, N; Orlikowski, D; Pelin, K; Pellegrini, N; Quijano-Roy, S; Romero, NB; Wallgren-Pettersson, C	1
Lorenzoni, PJ; Scola, RH; Werneck, LC; Youssef, NC	1
Beggs, AH; DeChene, ET; Granzier, H; Hooijman, P; Ottenheijm, CA; Stienen, GJ	1
Granzier, H; Ottenheijm, CA	1
Granzier, H; Labeit, S; Ottenheijm, CA	1
Feng, HZ; Iwamoto, H; Jin, JP; Larsson, L; Lehtokari, VL; Li, M; Ochala, J; Pénisson-Besnier, I; Wallgren-Pettersson, C; Yagi, N	1
Figarella-Branger, D; Franques, J; Herczegfalvi, A; Huebner, A; Karcagi, V; Lehtokari, VL; Lochmüller, H; Pelin, K; Pellissier, JF; Pouget, J; Schoser, B; von der Hagen, M; Wallgren-Pettersson, C	1
Brooks, SV; Dowling, JJ; Nelson, DD; Telfer, WR; Waugh, T	1
Laing, NG; Nowak, KJ; Sewry, CA; Wallgren-Pettersson, C	1
Fedick, A; Su, J; Treff, NR	1
Achiron, R; Berkenstadt, M; Eisenberg-Barzilai, S; Frydman, M; Gilboa, Y; Lehtokari, VL; Mehta, L; Polak-Charcon, S; Pras, E; Reznik-Wolf, H; Wallgren-Pettersson, C; Winder, T; Yonath, H	1
Batra, VV; Kapoor, S; Lehtokari, VL; Singh, A; Wallgren-Pettersson, C	1
Angelini, C; Hackman, P; Kiiski, K; Laari, L; Lehtokari, VL; Lunkka-Hytönen, M; Pelin, K; Petty, R; Wallgren-Pettersson, C	1
Fowler, VM; Gokhin, DS	1
Bendahan, D; Brohm, K; Cozzone, PJ; De Winter, JM; Giannesini, B; Gineste, C; Gondin, J; Granzier, H; Gretz, N; Jubeau, M; Kohl, C; Labeit, S; Le Fur, Y; Ottenheijm, CA; Pecchi, E; Stienen, GJ; Vilmen, C; Witt, CC	1
Akcoren, Z; Bijlsma, E; Bushby, K; Donner, K; Giovannucci Uzielli, ML; Lammens, M; Lapi, E; Odent, S; Pelin, K; Sewry, C; Topaloğlu, H; Wallgren-Pettersson, C	1
Donner, K; Holmberg, M; Jungbluth, H; Muntoni, F; Pelin, K; Wallgren-Pettersson, C	1
Clement, S; Cooper, ST; Davies, KE; Domazetovska, A; Ilkovski, B; Laing, NG; Maxwell, AL; North, KN; Nowak, KJ	1
Anderson, SL; Donnelly, MC; Ekstein, J; Keefe, EM; LeVoci, LA; Rubin, BY; Toto, NR	1
Beggs, AH; Goebel, HH; Laing, NG; Muntoni, F; North, KN; Nowak, KJ; Pelin, K; Romero, NB; Wallgren-Pettersson, C	1
Allsop, J; Bydder, G; Chattopadhyay, A; Counsell, S; Jungbluth, H; Laing, N; Mercuri, E; Muntoni, F; North, K; Pelin, K; Sewry, CA; Wallgren-Pettersson, C	1
Laing, NG; Wallgren-Pettersson, C	2
Burkart, C; Granzier, H; Labeit, D; Labeit, S; McNabb, M; Witt, CC; Wu, Y	1
Angelini, C; Bushby, K; Donner, K; Iannaccone, S; Laing, NG; Lehtokari, VL; Muntoni, F; Pelin, K; Ranta, S; Sandbacka, M; Sewry, C; Van den Bergh, P; Wallgren-Pettersson, C	1
Akkari, PA; Bang, ML; Beggs, AH; Centner, T; de la Chapelle, A; Donner, K; Dubowitz, V; Fardeau, M; Hanefeld, F; Hilpelä, P; Labeit, S; Laing, NG; Muntoni, F; Odent, S; Pelin, K; Sewry, C; Urtizberea, JA; Wallgren-Pettersson, C; Wattanasirichaigoon, D; Wilton, SD	1
Imoto, C; Kawai, M; Kimura, S; Nonaka, I	1
Beggs, AH; Castagna-Sloane, A; Cusano, R; de la Chapelle, A; Donner, K; Dubowitz, V; Fardeau, M; Graziano, C; Hilpelä, P; Iannaccone, S; Laing, NG; Lammens, M; Minetti, C; Muntoni, F; Pedemonte, M; Pelin, K; Porfirio, B; Seri, M; Sewry, C; Swoboda, KJ; Urtizberea, JA; Wallgren-Pettersson, C	1
Brown, SC; Jungbluth, H; Labeit, S; Manzur, A; Muntoni, F; Pelin, K; Sewry, CA; Wallgren-Pettersson, C	1
Bang, ML; Carvalho, M; Donner, K; Fireman, MA; Gurgel-Giannetti, J; Labeit, S; Marie, SK; Oliveira, AS; Pelin, K; Reed, U; Vainzof, M; Wallgren-Pettersson, C; Zanoteli, E; Zatz, M	1
Miike, T	2
Hirata, K; Nakagawa, M	1
Bang, ML; Gurgel-Giannetti, J; Labeit, S; Marie, S; Reed, U; Vainzof, M; Zatz, M	1

Reviews

9 review(s) available for tecnazene and Myopathies, Nemaline

Article	Year
A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review. Acta neurologica Belgica, 2020, Volume: 120, Issue:6 Topics: Adult; China; Female; Heterozygote; Humans; Muscle Proteins; Mutation; Myopathies, Nemaline; Pedigree	2020
Nemaline myopathies: a current view. Journal of muscle research and cell motility, 2019, Volume: 40, Issue:2 Topics: Actins; Age of Onset; Humans; Microfilament Proteins; Muscle Proteins; Mutation; Myopathies, Nemaline; Sarcomeres	2019
Congenital myopathy with cap-like structures and nemaline rods: case report and literature review. Pediatric neurology, 2014, Volume: 51, Issue:2 Topics: Child; Humans; Male; Muscle Proteins; Myopathies, Nemaline; Myopathies, Structural, Congenital	2014
Lifting the nebula: novel insights into skeletal muscle contractility. Physiology (Bethesda, Md.), 2010, Volume: 25, Issue:5 Topics: Animals; Humans; Mice; Muscle Contraction; Muscle Proteins; Muscle, Skeletal; Myopathies, Nemaline; Sarcomeres	2010
Nebulin, a major player in muscle health and disease. FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2011, Volume: 25, Issue:3 Topics: Animals; Humans; Muscle Contraction; Muscle Proteins; Muscle, Skeletal; Myopathies, Nemaline	2011
Nemaline myopathies. Seminars in pediatric neurology, 2011, Volume: 18, Issue:4 Topics: Animals; Disease Models, Animal; DNA Mutational Analysis; Humans; Molecular Diagnostic Techniques; Muscle Proteins; Muscle, Skeletal; Mutation; Myopathies, Nemaline	2011
[Congenital mild nemaline myopathy]. Ryoikibetsu shokogun shirizu, 2001, Issue:35 Topics: Chromosomes, Human, Pair 1; Chromosomes, Human, Pair 2; Diagnosis, Differential; Humans; Muscle Proteins; Muscles; Mutation; Myopathies, Nemaline; Prognosis; Severity of Illness Index; Tropomyosin	2001
[Severe infantile nemaline myopathy]. Ryoikibetsu shokogun shirizu, 2001, Issue:35 Topics: Chromosomes, Human, Pair 1; Chromosomes, Human, Pair 2; Diagnosis, Differential; Humans; Infant, Newborn; Muscle Proteins; Muscles; Mutation; Myopathies, Nemaline; Prognosis; Severity of Illness Index; Tropomyosin	2001
[Adult onset nemaline myopathy and monoclonal gammopathy]. Ryoikibetsu shokogun shirizu, 2001, Issue:35 Topics: Animals; Diagnosis, Differential; HIV Infections; Humans; Muscle Proteins; Mutation; Myeloma Proteins; Myopathies, Nemaline; Paraproteinemias; Prednisolone; Prognosis; Tropomyosin	2001

Other Studies

81 other study(ies) available for tecnazene and Myopathies, Nemaline

Article	Year
Structures from intact myofibrils reveal mechanism of thin filament regulation through nebulin. Science (New York, N.Y.), 2022, 02-18, Volume: 375, Issue:6582 Topics: Actin Cytoskeleton; Actins; Animals; Electron Microscope Tomography; Humans; Mice; Mice, Inbred BALB C; Models, Molecular; Muscle Proteins; Mutation; Myocardium; Myofibrils; Myopathies, Nemaline; Myosins; Protein Conformation; Protein Structure, Secondary; Psoas Muscles; Sarcomeres	2022
A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region. PloS one, 2022, Volume: 17, Issue:5 Topics: Comparative Genomic Hybridization; DNA Copy Number Variations; Genome, Human; Humans; Muscle Proteins; Myopathies, Nemaline; Polymerase Chain Reaction	2022
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy. Acta neuropathologica communications, 2022, 12-17, Volume: 10, Issue:1 Topics: Animals; Mice; Muscle Fibers, Skeletal; Muscle, Skeletal; Mutation; Myopathies, Nemaline; Myosins; Proteome	2022
NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy. Human molecular genetics, 2023, 05-05, Volume: 32, Issue:10 Topics: Animals; Muscle, Skeletal; Mutation; Myopathies, Nemaline; Sarcomeres; Zebrafish	2023
Aberrations in Energetic Metabolism and Stress-Related Pathways Contribute to Pathophysiology in the Neb Conditional Knockout Mouse Model of Nemaline Myopathy. The American journal of pathology, 2023, Volume: 193, Issue:10 Topics: Animals; Humans; Mice; Mice, Knockout; Muscle Proteins; Muscle Weakness; Muscle, Skeletal; Mutation; Myopathies, Nemaline; Proteomics	2023
Functional Characterization of the Intact Diaphragm in a Nebulin-Based Nemaline Myopathy (NM) Model-Effects of the Fast Skeletal Muscle Troponin Activator International journal of molecular sciences, 2019, Oct-10, Volume: 20, Issue:20 Topics: Animals; Copper Transporter 1; Diaphragm; Disease Models, Animal; Imidazoles; Mice; Mice, Inbred C57BL; Mice, Knockout; Muscle Contraction; Muscle Proteins; Muscle, Skeletal; Myopathies, Nemaline; Pyrazines; Troponin	2019
Omecamtiv mecarbil lowers the contractile deficit in a mouse model of nebulin-based nemaline myopathy. PloS one, 2019, Volume: 14, Issue:11 Topics: Animals; Calcium; Disease Models, Animal; Mice; Mice, Knockout; Muscle Contraction; Muscle Fibers, Skeletal; Muscle Proteins; Myopathies, Nemaline; Urea	2019
In vivo characterization of skeletal muscle function in nebulin-deficient mice. Muscle & nerve, 2020, Volume: 61, Issue:3 Topics: Animals; Disease Models, Animal; Female; Hindlimb; Mice, Knockout; Muscle Contraction; Muscle Fatigue; Muscle Proteins; Muscle, Skeletal; Myopathies, Nemaline; Myosin Heavy Chains	2020
Expressing a Z-disk nebulin fragment in nebulin-deficient mouse muscle: effects on muscle structure and function. Skeletal muscle, 2020, 01-28, Volume: 10, Issue:1 Topics: Animals; Dependovirus; Genetic Therapy; HEK293 Cells; Humans; Mice; Muscle Contraction; Muscle Fatigue; Muscle Proteins; Myopathies, Nemaline; Myosins; Sarcomeres	2020
An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene. Stem cell research, 2020, Volume: 43 Topics: Female; Heterozygote; Humans; Induced Pluripotent Stem Cells; Infant, Newborn; Kruppel-Like Factor 4; Muscle Proteins; Mutation; Myopathies, Nemaline	2020
Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb. Acta neuropathologica communications, 2020, 02-17, Volume: 8, Issue:1 Topics: Animals; Codon, Nonsense; Disease Models, Animal; Female; Male; Mice, Inbred C57BL; Muscle Proteins; Muscle, Skeletal; Mutation, Missense; Myopathies, Nemaline	2020
Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy. Clinical genetics, 2020, Volume: 97, Issue:6 Topics: Actins; Adolescent; Adult; Child; Child, Preschool; DNA Mutational Analysis; Exons; Female; Genetic Predisposition to Disease; High-Throughput Nucleotide Sequencing; Humans; Male; Middle Aged; Muscle Proteins; Muscular Diseases; Mutation; Myopathies, Nemaline; Phenotype; Protein Isoforms; RNA Splicing; Troponin T; Young Adult	2020
Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism. Nature communications, 2020, 06-01, Volume: 11, Issue:1 Topics: Actin Cytoskeleton; Animals; Heterozygote; Mice, 129 Strain; Mice, Inbred C57BL; Microscopy, Electron, Transmission; Muscle Proteins; Muscle, Skeletal; Mutation, Missense; Myofibrils; Myopathies, Nemaline; Sarcomeres; Tropomyosin; Troponin; X-Ray Diffraction	2020
A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation. Neuromuscular disorders : NMD, 2021, Volume: 31, Issue:3 Topics: Arthrogryposis; Female; Fetus; Gestational Age; Humans; Lebanon; Male; Muscle Proteins; Muscle Weakness; Muscle, Skeletal; Mutation; Myopathies, Nemaline; Pregnancy; Ultrasonography, Prenatal	2021
A Cross-Sectional Study of Nemaline Myopathy. Neurology, 2021, 03-09, Volume: 96, Issue:10 Topics: Actins; Adolescent; Adult; Child; Child, Preschool; Cohort Studies; Cross-Sectional Studies; Disability Evaluation; Disease Progression; Enteral Nutrition; Female; Genotype; Humans; Infant; Longitudinal Studies; Male; Middle Aged; Muscle Proteins; Myopathies, Nemaline; Pilot Projects; Psychomotor Performance; Respiratory Function Tests; Sialorrhea; Tracheostomy; Treatment Outcome; Wheelchairs; Young Adult	2021
KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination. eLife, 2017, 08-09, Volume: 6 Topics: Animals; Cytoskeletal Proteins; Mice; Mice, Inbred C57BL; Mice, Knockout; Muscle Contraction; Muscle Proteins; Muscle, Skeletal; Mutation; Myopathies, Nemaline; Sarcomeres; Ubiquitin; Ubiquitination	2017
[Two cases of nemaline myopathy presenting with hypertrophy of distal limbs with prominent asymmetry]. Rinsho shinkeigaku = Clinical neurology, 2017, Nov-25, Volume: 57, Issue:11 Topics: Adult; Atrophy; Heterozygote; Humans; Lower Extremity; Male; Muscle Proteins; Muscle, Skeletal; Mutation; Myopathies, Nemaline	2017
Clinical and genetic diversity of nemaline myopathy from a single neuromuscular center in Korea. Journal of the neurological sciences, 2017, Dec-15, Volume: 383 Topics: Adolescent; Adult; Child; Child, Preschool; DNA Copy Number Variations; Exome Sequencing; Female; Genotyping Techniques; Humans; Infant; Lower Extremity; Male; Muscle Proteins; Muscle Weakness; Mutation; Myopathies, Nemaline; Republic of Korea; Young Adult	2017
Characterization of congenital myopathies at a Korean neuromuscular center. Muscle & nerve, 2018, Volume: 58, Issue:2 Topics: Adolescent; Adult; Age of Onset; Child; Child, Preschool; Dynamin II; Dynamins; Female; Humans; Infant; Male; Muscle Fibers, Skeletal; Muscle Proteins; Mutation; Myopathies, Nemaline; Myopathies, Structural, Congenital; Myopathy, Central Core; Myotonia Congenita; Republic of Korea; Retrospective Studies; Ryanodine Receptor Calcium Release Channel; Treatment Outcome; Young Adult	2018
Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy. Acta neuropathologica communications, 2018, 05-30, Volume: 6, Issue:1 Topics: Actins; Animals; Animals, Genetically Modified; Dose-Response Relationship, Drug; Embryo, Nonmammalian; Gene Expression Regulation; Green Fluorescent Proteins; Microfilament Proteins; Microscopy, Electron; Muscle Proteins; Muscle, Skeletal; Mutation; Myopathies, Nemaline; RNA, Messenger; Zebrafish	2018
Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2018, Volume: 37, Issue:2 Topics: Codon, Nonsense; Female; High-Throughput Nucleotide Sequencing; Humans; Magnetic Resonance Imaging; Middle Aged; Muscle Proteins; Muscle, Skeletal; Myopathies, Nemaline; Pedigree	2018
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy. Genetics in medicine : official journal of the American College of Medical Genetics, 2019, Volume: 21, Issue:7 Topics: Humans; Japan; Muscle Proteins; Muscle, Skeletal; Mutation; Myopathies, Nemaline; RNA Splicing; Sequence Analysis, RNA	2019
New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy. PloS one, 2018, Volume: 13, Issue:12 Topics: Actins; Adult; Alleles; Child; Female; Gene Frequency; High-Throughput Nucleotide Sequencing; Humans; Male; Muscle Hypotonia; Muscle Proteins; Muscle Weakness; Muscle, Skeletal; Mutation; Myopathies, Nemaline; Pedigree; RNA Splicing; Spain	2018
Myostatin Inhibition Using ActRIIB-mFc Does Not Produce Weight Gain or Strength in the Nebulin Conditional KO Mouse. Journal of neuropathology and experimental neurology, 2019, 02-01, Volume: 78, Issue:2 Topics: Activin Receptors, Type II; Animals; Mice; Mice, Knockout; Muscle Proteins; Muscle Strength; Muscle Weakness; Myopathies, Nemaline; Myostatin; Weight Gain	2019
Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene. Neuromuscular disorders : NMD, 2019, Volume: 29, Issue:2 Topics: Adult; Humans; Male; Muscle Proteins; Muscle, Skeletal; Myopathies, Nemaline; Pedigree; Sequence Deletion; Tomography, X-Ray Computed	2019
Deleting nebulin's C-terminus reveals its importance to sarcomeric structure and function and is sufficient to invoke nemaline myopathy. Human molecular genetics, 2019, 05-15, Volume: 28, Issue:10 Topics: Actin Cytoskeleton; Amino Acid Sequence; Animals; Animals, Newborn; Disease Models, Animal; Homozygote; Humans; Hypertrophy; Insulin-Like Growth Factor I; Mice; Muscle Proteins; Muscle Weakness; Muscle, Skeletal; Myopathies, Nemaline; Phenotype; Sarcomeres	2019
Cold Spring Harbor molecular case studies, 2019, Volume: 5, Issue:4 Topics: Cardiac Myosins; Cardiomyopathies; Heterozygote; High-Throughput Nucleotide Sequencing; Humans; Infant; Male; Muscle Proteins; Muscle, Skeletal; Mutation; Myopathies, Nemaline; Myopathies, Structural, Congenital; Myosin Light Chains; Neuromuscular Diseases; Phenotype	2019
Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations. Journal of medical genetics, 2013, Volume: 50, Issue:6 Topics: Adult; Biopsy; Calcium; Child, Preschool; Humans; Imidazoles; Infant; Muscle Fibers, Skeletal; Muscle Proteins; Muscle Strength; Mutation; Myopathies, Nemaline; Pyrazines; Treatment Outcome; Troponin; Young Adult	2013
Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy. Brain : a journal of neurology, 2013, Volume: 136, Issue:Pt 6 Topics: Animals; Disease Models, Animal; Exons; Gene Deletion; Humans; Mice; Mice, Inbred C57BL; Mice, Transgenic; Muscle Proteins; Muscle Weakness; Myopathies, Nemaline; Severity of Illness Index	2013
The nebulin SH3 domain is dispensable for normal skeletal muscle structure but is required for effective active load bearing in mouse. Journal of cell science, 2013, Dec-01, Volume: 126, Issue:Pt 23 Topics: Animals; Cytoskeletal Proteins; Elastic Modulus; Excitation Contraction Coupling; Female; Gene Expression; Humans; Isometric Contraction; Male; Mice; Muscle Proteins; Muscle, Skeletal; Myopathies, Nemaline; Phosphoproteins; Protein Binding; Protein Structure, Tertiary; Tensile Strength; Weight-Bearing; Wiskott-Aldrich Syndrome Protein, Neuronal; Zyxin	2013
Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene. Journal of child neurology, 2015, Volume: 30, Issue:5 Topics: Child, Preschool; DNA Mutational Analysis; Humans; Male; Muscle Proteins; Muscles; Mutation; Myopathies, Nemaline; Pedigree	2015
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype. Acta neuropathologica communications, 2014, Apr-12, Volume: 2 Topics: Adolescent; Child; Child, Preschool; DNA Mutational Analysis; Female; Genotype; Humans; Infant; Infant, Newborn; Male; Microscopy, Electron; Muscle Contraction; Muscle Proteins; Muscle Weakness; Muscles; Myopathies, Nemaline; Myosin Heavy Chains; Myosins; Severity of Illness Index; Young Adult	2014
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. The Journal of clinical investigation, 2014, Volume: 124, Issue:8 Topics: Animals; Animals, Newborn; Cytoskeletal Proteins; Disease Models, Animal; Female; Humans; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Muscle Proteins; Muscle, Skeletal; Myopathies, Nemaline; Protein Interaction Domains and Motifs; Protein Stability; Proteolysis; Sarcomeres; Ubiquitination	2014
The nebulin repeat protein Lasp regulates I-band architecture and filament spacing in myofibrils. The Journal of cell biology, 2014, Aug-18, Volume: 206, Issue:4 Topics: Actinin; Actins; Animals; Connectin; Cytoskeleton; Drosophila melanogaster; Drosophila Proteins; Microfilament Proteins; Muscle Proteins; Muscle, Skeletal; Myofibrils; Myopathies, Nemaline; Myosins; Protein Structure, Tertiary; Sarcomeres	2014
Clinical utility gene card for: Nemaline myopathy - update 2015. European journal of human genetics : EJHG, 2015, Volume: 23, Issue:11 Topics: Genetic Predisposition to Disease; Genetic Testing; Humans; Muscle Proteins; Muscle, Skeletal; Mutation; Myopathies, Nemaline; Tropomyosin	2015
Two novel nebulin variants in an adult patient with congenital nemaline myopathy. Neuromuscular disorders : NMD, 2015, Volume: 25, Issue:5 Topics: Adult; Humans; Magnetic Resonance Imaging; Male; Muscle Proteins; Muscle, Skeletal; Mutation; Myopathies, Nemaline	2015
Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy. Human molecular genetics, 2015, Sep-15, Volume: 24, Issue:18 Topics: Animals; Disease Models, Animal; Gene Expression; Gene Expression Profiling; Mice; Mice, Knockout; Muscle Contraction; Muscle Fibers, Skeletal; Muscle Proteins; Muscle Weakness; Muscle, Skeletal; Myopathies, Nemaline; Myosins; Phenotype; Sarcomeres	2015
A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. European journal of human genetics : EJHG, 2016, Volume: 24, Issue:4 Topics: Case-Control Studies; Chromosome Breakpoints; Comparative Genomic Hybridization; DNA Copy Number Variations; Humans; Muscle Proteins; Myopathies, Nemaline	2016
Congenital Nemaline Myopathy: The Value of Magnetic Resonance Imaging of Muscle. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, 2015, Volume: 42, Issue:5 Topics: Actins; Family Health; Humans; Infant; Magnetic Resonance Imaging; Male; Muscle Proteins; Muscle, Skeletal; Myopathies, Nemaline	2015
NEB-related core-rod myopathy with distinct clinical and pathological features. Muscle & nerve, 2016, Volume: 53, Issue:3 Topics: Adenosine Triphosphatases; Adult; Child; Creatine Kinase; Electron Transport Complex IV; Humans; Male; Muscle Proteins; Muscle, Skeletal; Myopathies, Nemaline; Radiography; Tomography Scanners, X-Ray Computed	2016
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. Journal of molecular neuroscience : MN, 2016, Volume: 59, Issue:3 Topics: Child; DNA Copy Number Variations; Genetic Testing; Heterozygote; High-Throughput Nucleotide Sequencing; Humans; Infant; Introns; Muscle Proteins; Mutation; Myopathies, Nemaline; Promoter Regions, Genetic; Sequence Analysis, DNA; Young Adult	2016
Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy. Mammalian genome : official journal of the International Mammalian Genome Society, 2016, Volume: 27, Issue:9-10 Topics: Animals; Base Sequence; Codon, Nonsense; DNA Mutational Analysis; Dog Diseases; Dogs; Exome Sequencing; Female; Genetic Association Studies; Male; Muscle Proteins; Muscle, Skeletal; Myopathies, Nemaline	2016
Derivation of NEM2 affected human embryonic stem cell line Genea078. Stem cell research, 2016, Volume: 16, Issue:2 Topics: Alleles; Blastocyst; Cells, Cultured; Cellular Reprogramming; Comparative Genomic Hybridization; Exons; Female; Flow Cytometry; Heterozygote; Human Embryonic Stem Cells; Humans; Karyotype; Microscopy, Fluorescence; Muscle Proteins; Myopathies, Nemaline; Transcription Factors	2016
Derivation of NEM2 affected human embryonic stem cell line Genea079. Stem cell research, 2016, Volume: 16, Issue:2 Topics: Alleles; Blastocyst; Cells, Cultured; Cellular Reprogramming; Comparative Genomic Hybridization; Exons; Flow Cytometry; Gene Deletion; Heterozygote; Human Embryonic Stem Cells; Humans; Karyotype; Male; Microscopy, Fluorescence; Muscle Proteins; Myopathies, Nemaline; Transcription Factors	2016
Derivation of NEM2 affected human embryonic stem cell line Genea080. Stem cell research, 2016, Volume: 16, Issue:2 Topics: Alleles; Blastocyst; Cells, Cultured; Cellular Reprogramming; Comparative Genomic Hybridization; Exons; Flow Cytometry; Gene Deletion; Heterozygote; Human Embryonic Stem Cells; Humans; Karyotype; Male; Microscopy, Fluorescence; Muscle Proteins; Myopathies, Nemaline; Transcription Factors	2016
Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy. Neuromuscular disorders : NMD, 2017, Volume: 27, Issue:1 Topics: Animals; Diaphragm; Disease Models, Animal; Mice; Muscle Fibers, Skeletal; Muscle Proteins; Muscle Weakness; Muscle, Skeletal; Myopathies, Nemaline; Respiratory Insufficiency	2017
A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene. Journal of the neurological sciences, 2017, Feb-15, Volume: 373 Topics: Diagnosis, Differential; Disease Progression; Heterozygote; Humans; Male; Middle Aged; Muscle Proteins; Muscle Weakness; Mutation; Myopathies, Nemaline; Respiratory Insufficiency	2017
Nebulin--a giant chameleon. Advances in experimental medicine and biology, 2008, Volume: 642 Topics: Biopsy; Chromosome Disorders; Humans; Muscle Proteins; Mutation; Myopathies, Nemaline; Transcription, Genetic	2008
Nemaline myopathy: a tale of two cultures. Neuromuscular disorders : NMD, 2009, Volume: 19, Issue:3 Topics: Europe; Founder Effect; Genetic Carrier Screening; Genetic Counseling; Genetic Predisposition to Disease; Genetic Testing; Genotype; Humans; Jews; Muscle Proteins; Mutation; Myopathies, Nemaline	2009
The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence. Neuromuscular disorders : NMD, 2009, Volume: 19, Issue:3 Topics: DNA Mutational Analysis; Exons; Female; Founder Effect; Gene Deletion; Genetic Predisposition to Disease; Genetic Testing; Global Health; Haplotypes; Homozygote; Humans; Inheritance Patterns; Jews; Male; Muscle Proteins; Mutation; Myopathies, Nemaline	2009
Reduced thin filament length in nebulin-knockout skeletal muscle alters isometric contractile properties. American journal of physiology. Cell physiology, 2009, Volume: 296, Issue:5 Topics: Actin Cytoskeleton; Animals; Female; Isometric Contraction; Male; Mice; Mice, Knockout; Models, Biological; Muscle Proteins; Muscle, Skeletal; Myopathies, Nemaline; Myosin Heavy Chains; Proteolipids; Tensile Strength	2009
Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency. Human molecular genetics, 2009, Jul-01, Volume: 18, Issue:13 Topics: Adolescent; Animals; Child; Child, Preschool; Female; Humans; Infant; Male; Mice; Mice, Knockout; Muscle Contraction; Muscle Proteins; Muscle Weakness; Muscle, Skeletal; Myofibrils; Myopathies, Nemaline; Sarcomeres	2009
Rare genetic disorders in certain populations. Neuromuscular disorders : NMD, 2009, Volume: 19, Issue:5 Topics: Cluster Analysis; Consanguinity; Founder Effect; Genes, Recessive; Genetic Predisposition to Disease; Genetic Variation; Humans; Jews; Linkage Disequilibrium; Muscle Proteins; Mutation; Myopathies, Nemaline	2009
Core-rod myopathy caused by mutations in the nebulin gene. Neurology, 2009, Oct-06, Volume: 73, Issue:14 Topics: Adult; Humans; Magnetic Resonance Imaging; Male; Microscopy, Electron; Muscle Fibers, Skeletal; Muscle Proteins; Mutation; Myopathies, Nemaline	2009
Nemaline myopathy: clinical, histochemical and immunohistochemical features. Arquivos de neuro-psiquiatria, 2009, Volume: 67, Issue:3B Topics: Biopsy; Child; Child, Preschool; Desmin; Electromyography; Female; Humans; Immunohistochemistry; Infant; Male; Muscle Proteins; Muscles; Myopathies, Nemaline; Myosins; Retrospective Studies; Severity of Illness Index	2009
Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2). Journal of structural biology, 2010, Volume: 170, Issue:2 Topics: Actin Cytoskeleton; Adult; Animals; Calcium; Child, Preschool; Female; Humans; Infant; Male; Middle Aged; Muscle Contraction; Muscle Fibers, Skeletal; Muscle Proteins; Mutation; Myopathies, Nemaline; Stress, Mechanical	2010
Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy. FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2011, Volume: 25, Issue:6 Topics: Adult; Gene Expression Regulation; Humans; Kinetics; Male; Middle Aged; Muscle Proteins; Muscle Weakness; Muscle, Skeletal; Mutation; Myopathies, Nemaline; Myosins; X-Ray Diffraction	2011
Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. Neuromuscular disorders : NMD, 2011, Volume: 21, Issue:8 Topics: Adolescent; Biopsy; Child; Diagnosis, Differential; Distal Myopathies; Female; France; Humans; Hungary; Male; Middle Aged; Muscle Proteins; Muscle, Skeletal; Mutation; Myopathies, Nemaline	2011
Neb: a zebrafish model of nemaline myopathy due to nebulin mutation. Disease models & mechanisms, 2012, Volume: 5, Issue:3 Topics: Actin Cytoskeleton; Amino Acid Sequence; Animals; Disease Models, Animal; Embryo, Nonmammalian; Humans; Larva; Molecular Sequence Data; Motor Activity; Muscle Contraction; Muscle Proteins; Muscle, Skeletal; Mutation; Myopathies, Nemaline; Phenotype; RNA Processing, Post-Transcriptional; Zebrafish; Zebrafish Proteins	2012
Development of TaqMan allelic discrimination based genotyping of large DNA deletions. Genomics, 2012, Volume: 99, Issue:3 Topics: Alleles; Base Sequence; Connexin 30; Connexins; Genotyping Techniques; Hearing Loss; Humans; Molecular Sequence Data; Mucolipidoses; Muscle Proteins; Myopathies, Nemaline; Polymorphism, Single Nucleotide; Sequence Deletion; Transient Receptor Potential Channels	2012
Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy. Prenatal diagnosis, 2012, Volume: 32, Issue:1 Topics: Adult; Codon, Nonsense; Exons; Female; Gene Deletion; Genetic Carrier Screening; Genetic Predisposition to Disease; Heterozygote; Humans; Infant, Newborn; Jews; Male; Muscle Proteins; Myopathies, Nemaline; Pedigree; Pregnancy; Ultrasonography, Prenatal	2012
Mutations in the nebulin gene in a child with nemaline (rod) myopathy. Indian journal of pediatrics, 2013, Volume: 80, Issue:8 Topics: DNA Mutational Analysis; Fatal Outcome; Female; Humans; Male; Muscle Proteins; Myopathies, Nemaline	2013
Targeted array comparative genomic hybridization--a new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes. Neuromuscular disorders : NMD, 2013, Volume: 23, Issue:1 Topics: Case-Control Studies; Comparative Genomic Hybridization; DNA Copy Number Variations; Exons; Female; Finland; Gene Deletion; Humans; Jews; Male; Microarray Analysis; Muscle Proteins; Mutation; Myopathies, Nemaline	2013
A two-segment model for thin filament architecture in skeletal muscle. Nature reviews. Molecular cell biology, 2013, Volume: 14, Issue:2 Topics: Actin Cytoskeleton; Animals; CapZ Actin Capping Protein; Humans; Models, Biological; Muscle Contraction; Muscle Proteins; Muscle, Skeletal; Myofibrils; Myopathies, Nemaline; Sarcomeres; Tropomyosin	2013
In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype. Neuromuscular disorders : NMD, 2013, Volume: 23, Issue:4 Topics: Animals; Disease Models, Animal; Gene Expression; Heterozygote; In Vitro Techniques; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Mice; Mice, Knockout; Muscle Proteins; Muscle Strength; Muscle Weakness; Muscle, Skeletal; Mutation; Myopathies, Nemaline; Phenotype; Severity of Illness Index	2013
Mutations in the nebulin gene can cause severe congenital nemaline myopathy. Neuromuscular disorders : NMD, 2002, Volume: 12, Issue:7-8 Topics: Biopsy; Female; Humans; Immunohistochemistry; Infant; Infant, Newborn; Male; Muscle Proteins; Muscle, Skeletal; Mutation; Myopathies, Nemaline; Pedigree	2002
Nebulin mutations in autosomal recessive nemaline myopathy: an update. Neuromuscular disorders : NMD, 2002, Volume: 12, Issue:7-8 Topics: Biopsy; Frameshift Mutation; Genes, Recessive; Humans; Muscle Proteins; Muscle, Skeletal; Mutation; Myopathies, Nemaline; Point Mutation; Polymorphism, Single-Stranded Conformational; Reverse Transcriptase Polymerase Chain Reaction	2002
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. Human molecular genetics, 2004, Aug-15, Volume: 13, Issue:16 Topics: Actins; Biopolymers; Blotting, Western; Cells, Cultured; DNA Primers; Histological Techniques; Humans; Immunoblotting; Immunohistochemistry; Isoelectric Focusing; Models, Molecular; Muscle Proteins; Mutation; Myoblasts; Myopathies, Nemaline; Protein Folding; Protein Isoforms; Transfection	2004
Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. Human genetics, 2004, Volume: 115, Issue:3 Topics: Adult; Child; DNA Mutational Analysis; Exons; Female; Gene Deletion; Genetic Predisposition to Disease; Haplotypes; Humans; Jews; Male; Muscle Proteins; Myopathies, Nemaline; Pedigree; Reverse Transcriptase Polymerase Chain Reaction	2004
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. Neuromuscular disorders : NMD, 2004, Volume: 14, Issue:8-9 Topics: Actins; Adolescent; Adult; Child; Child, Preschool; DNA Mutational Analysis; Female; Genotype; Humans; Infant; Male; Muscle Proteins; Muscle, Skeletal; Mutation; Myopathies, Nemaline; Phenotype	2004
Magnetic resonance imaging of muscle in nemaline myopathy. Neuromuscular disorders : NMD, 2004, Volume: 14, Issue:12 Topics: Actins; Adolescent; Adult; Child; Child, Preschool; Diagnosis, Differential; Disease Progression; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Genetic Testing; Genotype; Humans; Leg; Magnetic Resonance Imaging; Male; Muscle Proteins; Muscle, Skeletal; Mutation; Myopathies, Nemaline; Phenotype; Predictive Value of Tests	2004
138th ENMC Workshop: nemaline myopathy, 20-22 May 2005, Naarden, The Netherlands. Neuromuscular disorders : NMD, 2006, Volume: 16, Issue:1 Topics: Animals; Disease Models, Animal; Humans; Muscle Proteins; Myopathies, Nemaline; Netherlands	2006
Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo. The EMBO journal, 2006, Aug-23, Volume: 25, Issue:16 Topics: Amino Acid Sequence; Animals; Calcium; Mice; Mice, Knockout; Molecular Sequence Data; Muscle Contraction; Muscle Fibers, Skeletal; Muscle Proteins; Muscle, Skeletal; Myopathies, Nemaline; Sarcomeres	2006
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Human mutation, 2006, Volume: 27, Issue:9 Topics: Chromatography, High Pressure Liquid; Codon, Nonsense; DNA Mutational Analysis; Exons; Female; Frameshift Mutation; Gene Deletion; Genes, Recessive; Humans; Introns; Male; Muscle Proteins; Myopathies, Nemaline; Point Mutation; RNA Splice Sites	2006
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proceedings of the National Academy of Sciences of the United States of America, 1999, Mar-02, Volume: 96, Issue:5 Topics: Australia; Base Sequence; Chromosome Mapping; Chromosomes, Human, Pair 2; Codon, Terminator; Female; Frameshift Mutation; Genetic Markers; Genetic Variation; Humans; Male; Molecular Sequence Data; Muscle Fibers, Skeletal; Muscle Proteins; Muscle, Skeletal; Myopathies, Nemaline; Nuclear Family; Pedigree; Point Mutation; Reverse Transcriptase Polymerase Chain Reaction; Sequence Deletion	1999
Nebulin is normally expressed in nemaline myopathy. Acta neuropathologica, 1999, Volume: 97, Issue:5 Topics: Humans; Immunoblotting; Immunohistochemistry; Muscle Proteins; Muscles; Myopathies, Nemaline	1999
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. Neuromuscular disorders : NMD, 1999, Volume: 9, Issue:8 Topics: Child; Child, Preschool; Chromosome Mapping; Chromosomes, Human, Pair 2; Genes, Recessive; Genetic Linkage; Genetic Variation; Humans; Infant; Lod Score; Muscle Proteins; Myopathies, Nemaline; Pedigree	1999
Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy. Neuromuscular disorders : NMD, 2001, Volume: 11, Issue:2 Topics: Actinin; Adolescent; Adult; Child; Child, Preschool; Chromosomes, Human, Pair 2; Gene Expression Regulation; Genetic Linkage; Humans; Immunohistochemistry; Infant; Infant, Newborn; Muscle Fibers, Skeletal; Muscle Proteins; Muscle, Skeletal; Myopathies, Nemaline; Myosins; Protein Isoforms; Protein Structure, Tertiary	2001
Nebulin expression in patients with nemaline myopathy. Neuromuscular disorders : NMD, 2001, Volume: 11, Issue:2 Topics: Adolescent; Adult; Biopsy; Child; Child, Preschool; DNA Mutational Analysis; Female; Gene Expression Regulation; Humans; Immunohistochemistry; Inclusion Bodies; Infant; Muscle Fibers, Fast-Twitch; Muscle Fibers, Slow-Twitch; Muscle Proteins; Muscle, Skeletal; Mutation; Myopathies, Nemaline; Sarcolemma	2001
Report of the 83rd ENMC International Workshop: 4th Workshop on Nemaline Myopathy, 22-24 September 2000, Naarden, The Netherlands. Neuromuscular disorders : NMD, 2001, Volume: 11, Issue:6-7 Topics: Actins; Humans; Muscle Proteins; Myopathies, Nemaline; Netherlands; Tropomyosin	2001
Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy. Muscle & nerve, 2002, Volume: 25, Issue:5 Topics: Adolescent; Blotting, Western; Child; Child, Preschool; Female; Fluorescent Antibody Technique; Humans; Male; Muscle Fibers, Skeletal; Muscle Proteins; Mutation; Myopathies, Nemaline	2002