Статті в журналах з теми "LGMDR8"
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Alonso-Pérez, Jorge, Lidia González-Quereda, Luca Bello, Michela Guglieri, Volker Straub, Pia Gallano, Claudio Semplicini, et al. "New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy." Brain 143, no. 9 (September 1, 2020): 2696–708. http://dx.doi.org/10.1093/brain/awaa228.
Повний текст джерелаLasa-Elgarresta, Jaione, Laura Mosqueira-Martín, Neia Naldaiz-Gastesi, Amets Sáenz, Adolfo López de Munain, and Ainara Vallejo-Illarramendi. "Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations." International Journal of Molecular Sciences 20, no. 18 (September 13, 2019): 4548. http://dx.doi.org/10.3390/ijms20184548.
Повний текст джерелаTasca, Giorgio, Mauro Monforte, Jordi Díaz-Manera, Giacomo Brisca, Claudio Semplicini, Adele D’Amico, Fabiana Fattori, et al. "MRI in sarcoglycanopathies: a large international cohort study." Journal of Neurology, Neurosurgery & Psychiatry 89, no. 1 (September 9, 2017): 72–77. http://dx.doi.org/10.1136/jnnp-2017-316736.
Повний текст джерелаKhadilkar, Satish V., Bhagyadhan A. Patel, and Jamshed A. Lalkaka. "Making sense of the clinical spectrum of limb girdle muscular dystrophies." Practical Neurology 18, no. 3 (February 22, 2018): 201–10. http://dx.doi.org/10.1136/practneurol-2017-001799.
Повний текст джерелаHadj Salem, Ikhlass, Fatma Kamoun, Nacim Louhichi, Souad Rouis, Mariam Mziou, Nourhene Fendri-Kriaa, Fatma Makni-Ayadi, Chahnez Triki, and Faiza Fakhfakh. "Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies." Bioscience Reports 31, no. 2 (November 23, 2010): 125–35. http://dx.doi.org/10.1042/bsr20100026.
Повний текст джерелаCozma, Liviu, Maria Barsevschi, Cristina Mitu, Alexandra Bastian, and Bogdan Ovidiu Popescu. "SURPRISING GENOTYPE EXPRESSED AS A COMMON LIMB-GIRDLE MUSCULAR DYSTROPHY." Romanian Journal of Neurology 16, no. 2 (June 30, 2017): 71–73. http://dx.doi.org/10.37897/rjn.2017.2.6.
Повний текст джерелаMarchuk, Margarita, Tetiana Dovbonos, Halyna Makukh, Orest Semeryak, and Yevheniya Sharhorodska. "Sarcotubular Myopathy Due to Novel TRIM32 Mutation in Association with Multiple Sclerosis." Brain Sciences 11, no. 8 (July 31, 2021): 1020. http://dx.doi.org/10.3390/brainsci11081020.
Повний текст джерелаPathak, Pankaj, Mehar Chand Sharma, Pankaj Jha, Chitra Sarkar, Mohammed Faruq, Prerana Jha, Vaishali Suri, et al. "Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India." Journal of Neuromuscular Diseases 8, no. 1 (January 1, 2021): 125–36. http://dx.doi.org/10.3233/jnd-200547.
Повний текст джерелаWillis, Erin, Steven A. Moore, Mary O. Cox, Vikki Stefans, Akilandeswari Aravindhan, Murat Gokden, and Aravindhan Veerapandiyan. "Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene." Child Neurology Open 9 (January 2022): 2329048X2210975. http://dx.doi.org/10.1177/2329048x221097518.
Повний текст джерелаAngelini, C., L. Nardetto, C. Borsato, R. Padoan, M. Fanin, A. C. Nascimbeni, and E. Tasca. "The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B)." Neurological Research 32, no. 1 (February 2010): 41–46. http://dx.doi.org/10.1179/174313209x380847.
Повний текст джерелаPrykhozhij, Sergey V., Lucia Caceres, Kevin Ban, Anna Cordeiro-Santanach, Kanneboyina Nagaraju, Eric P. Hoffman, and Jason N. Berman. "Loss of calpain3b in Zebrafish, A Model of Limb-Girdle Muscular Dystrophy, Increases Susceptibility to Muscle Defects Due to Elevated Muscle Activity." Genes 14, no. 2 (February 15, 2023): 492. http://dx.doi.org/10.3390/genes14020492.
Повний текст джерелаBruge, Celine, Marine Geoffroy, Manon Benabides, Emilie Pellier, Evelyne Gicquel, Jamila Dhiab, Lucile Hoch, Isabelle Richard, and Xavier Nissan. "Skeletal Muscle Cells Derived from Induced Pluripotent Stem Cells: A Platform for Limb Girdle Muscular Dystrophies." Biomedicines 10, no. 6 (June 16, 2022): 1428. http://dx.doi.org/10.3390/biomedicines10061428.
Повний текст джерелаZhu, Yuling, Huili Zhang, Yiming Sun, Yaqin Li, Langhui Deng, Xingxuan Wen, Huaqiao Wang, and Cheng Zhang. "Serum Enzyme Profiles Differentiate Five Types of Muscular Dystrophy." Disease Markers 2015 (2015): 1–7. http://dx.doi.org/10.1155/2015/543282.
Повний текст джерелаØstergaard, Sofie Thurø, Katherine Johnson, Tanya Stojkovic, Thomas Krag, Willem De Ridder, Peter De Jonghe, Jonathan Baets, et al. "Limb girdle muscular dystrophy due to mutations in POMT2." Journal of Neurology, Neurosurgery & Psychiatry 89, no. 5 (November 24, 2017): 506–12. http://dx.doi.org/10.1136/jnnp-2017-317018.
Повний текст джерелаBarp, Andrea, Pascal Laforet, Luca Bello, Giorgio Tasca, John Vissing, Mauro Monforte, Enzo Ricci, et al. "European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)." Journal of Neurology 267, no. 1 (September 25, 2019): 45–56. http://dx.doi.org/10.1007/s00415-019-09539-y.
Повний текст джерелаSpadafora, Patrizia, Antonio Qualtieri, Francesca Cavalcanti, Gemma Di Palma, Olivier Gallo, Selene De Benedittis, Annamaria Cerantonio, and Luigi Citrigno. "A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B." International Journal of Molecular Sciences 23, no. 16 (August 11, 2022): 8932. http://dx.doi.org/10.3390/ijms23168932.
Повний текст джерелаMagri, Francesca, Simona Zanotti, Sabrina Salani, Francesco Fortunato, Patrizia Ciscato, Simonetta Gerevini, Lorenzo Maggi, et al. "Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene." International Journal of Molecular Sciences 23, no. 17 (August 29, 2022): 9817. http://dx.doi.org/10.3390/ijms23179817.
Повний текст джерелаThiruvengadam, Girija, Sen Chandra Sreetama, Karine Charton, Marshall Hogarth, James S. Novak, Laurence Suel-Petat, Goutam Chandra, Bruno Allard, Isabelle Richard, and Jyoti K. Jaiswal. "Anoctamin 5 Knockout Mouse Model Recapitulates LGMD2L Muscle Pathology and Offers Insight Into in vivo Functional Deficits." Journal of Neuromuscular Diseases 8, s2 (November 30, 2021): S243—S255. http://dx.doi.org/10.3233/jnd-210720.
Повний текст джерелаFischer, D., M. C. Walter, K. Kesper, J. A. Petersen, S. Aurino, V. Nigro, C. Kubisch, et al. "Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs." Journal of Neurology 252, no. 5 (February 23, 2005): 538–47. http://dx.doi.org/10.1007/s00415-005-0684-4.
Повний текст джерелаStrafella, Claudia, Valerio Caputo, Giulia Campoli, Rosaria Maria Galota, Julia Mela, Stefania Zampatti, Giulietta Minozzi, et al. "Genetic Counseling and NGS Screening for Recessive LGMD2A Families." High-Throughput 9, no. 2 (May 10, 2020): 13. http://dx.doi.org/10.3390/ht9020013.
Повний текст джерелаGushchina, L., B. Bradley, K. Terry, S. Casey, B. Petrykowski, J. Lay, E. Frair, et al. "P.172 AAV-mediated strategy for TCAP gene correction as a new treatment for LGMDR7/LGMD2G dystrophy." Neuromuscular Disorders 32 (October 2022): S117. http://dx.doi.org/10.1016/j.nmd.2022.07.310.
Повний текст джерелаBlack, Carin, and Joanne Said. "Normal vaginal delivery in a patient with autosomal recessive limb-girdle muscular dystrophy." Obstetric Medicine 3, no. 2 (June 2010): 81–82. http://dx.doi.org/10.1258/om.2010.090052.
Повний текст джерелаRind, F. C. "Intracellular characterization of neurons in the locust brain signaling impending collision." Journal of Neurophysiology 75, no. 3 (March 1, 1996): 986–95. http://dx.doi.org/10.1152/jn.1996.75.3.986.
Повний текст джерелаGeorganopoulou, Dimitra G., Vasilis G. Moisiadis, Firhan A. Malik, Ali Mohajer, Tanya M. Dashevsky, Shirley T. Wuu, and Chih-Kao Hu. "A Journey with LGMD: From Protein Abnormalities to Patient Impact." Protein Journal 40, no. 4 (June 10, 2021): 466–88. http://dx.doi.org/10.1007/s10930-021-10006-9.
Повний текст джерелаFrosk, Patrick, Marc R. Del Bigio, Klaus Wrogemann, and Cheryl R. Greenberg. "Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I." European Journal of Human Genetics 13, no. 8 (May 11, 2005): 978–82. http://dx.doi.org/10.1038/sj.ejhg.5201436.
Повний текст джерелаPassos-Bueno, Maria Rita, Mariz Vainzof, Eloisa S. Moreira, and Mayana Zatz. "Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G." American Journal of Medical Genetics 82, no. 5 (February 19, 1999): 392–98. http://dx.doi.org/10.1002/(sici)1096-8628(19990219)82:5<392::aid-ajmg7>3.0.co;2-0.
Повний текст джерелаPeron, Simon P., Holger G. Krapp, and Fabrizio Gabbiani. "Influence of Electrotonic Structure and Synaptic Mapping on the Receptive Field Properties of a Collision-Detecting Neuron." Journal of Neurophysiology 97, no. 1 (January 2007): 159–77. http://dx.doi.org/10.1152/jn.00660.2006.
Повний текст джерелаCroissant, Coralie, Romain Carmeille, Charlotte Brévart, and Anthony Bouter. "Annexins and Membrane Repair Dysfunctions in Muscular Dystrophies." International Journal of Molecular Sciences 22, no. 10 (May 17, 2021): 5276. http://dx.doi.org/10.3390/ijms22105276.
Повний текст джерелаHajer, Foddha, Seo Go Hun, Lee Hane, Zemzem Firas, Naouar Ines, Boughammoura Amel, Gribaa Moez, and Khelil Amel Haj. "Exome sequencing reveals a homozygous frameshift variant in CAPN3 in a Tunisian patient with a neuromuscular disorder." Annals of Molecular and Genetic Medicine 6, no. 1 (September 27, 2022): 001–4. http://dx.doi.org/10.17352/amgm.000010.
Повний текст джерелаZhu, Ying, and Fabrizio Gabbiani. "Fine and distributed subcellular retinotopy of excitatory inputs to the dendritic tree of a collision-detecting neuron." Journal of Neurophysiology 115, no. 6 (June 1, 2016): 3101–12. http://dx.doi.org/10.1152/jn.00044.2016.
Повний текст джерелаRico, Anabel, Garazi Guembelzu, Valle Palomo, Ana Martínez, Ana Aiastui, Leire Casas-Fraile, Andrea Valls, Adolfo López de Munain та Amets Sáenz. "Allosteric Modulation of GSK-3β as a New Therapeutic Approach in Limb Girdle Muscular Dystrophy R1 Calpain 3-Related". International Journal of Molecular Sciences 22, № 14 (8 липня 2021): 7367. http://dx.doi.org/10.3390/ijms22147367.
Повний текст джерелаRichardson, Mark, Anna Mayhew, Robert Muni-Lofra, Lindsay B. Murphy, and Volker Straub. "Prevalence of Pain within Limb Girdle Muscular Dystrophy R9 and Implications for Other Degenerative Diseases." Journal of Clinical Medicine 10, no. 23 (November 25, 2021): 5517. http://dx.doi.org/10.3390/jcm10235517.
Повний текст джерелаLostal, William, Carinne Roudaut, Marine Faivre, Karine Charton, Laurence Suel, Nathalie Bourg, Heather Best, et al. "Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A." Science Translational Medicine 11, no. 520 (November 27, 2019): eaat6072. http://dx.doi.org/10.1126/scitranslmed.aat6072.
Повний текст джерелаSihombing, Nydia Rena Benita, Nurin Aisyiyah Listyasari, and Sultana MH Faradz. "Autosomal Recessive Limb Girdle Muscular Dystrophy In A Complex Consanguineous Family: The First Cases Series In Indonesia." Journal of Biomedicine and Translational Research 3, no. 2 (December 31, 2017): 26. http://dx.doi.org/10.14710/jbtr.v3i2.1500.
Повний текст джерелаSarkozy, Anna, Mariacristina Scoto, Francesco Muntoni, and Joana Domingos. "Dystrophinopathies and Limb-Girdle Muscular Dystrophies." Neuropediatrics 48, no. 04 (April 20, 2017): 262–72. http://dx.doi.org/10.1055/s-0037-1601860.
Повний текст джерелаBushby, K., R. Bashir, S. Keers, S. Britton, M. Zatz, M. R. Passos-Bueno, M. Lovett, I. Mahjneh, G. Marconi, and T. Strachan. "The molecular biology of LGMD2B — Towards the identification of the LGMD gene on chromosome 2p13." Neuromuscular Disorders 6, no. 6 (December 1996): 491–92. http://dx.doi.org/10.1016/s0960-8966(96)00393-8.
Повний текст джерелаWang, Xike, Yue Wu, Yuxia Cui, Nan Wang, Lasse Folkersen, and Yuchuan Wang. "Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy." Case Reports in Genetics 2018 (July 16, 2018): 1–6. http://dx.doi.org/10.1155/2018/8090797.
Повний текст джерелаStec, I., W. Kress, G. Meng, B. Muller, C. R. Muller, and T. Grimm. "Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 familes." Journal of Medical Genetics 32, no. 12 (December 1, 1995): 930–33. http://dx.doi.org/10.1136/jmg.32.12.930.
Повний текст джерелаWu, Bo, Morgan Drains, Sapana N. Shah, Pei Juan Lu, Victoria Leroy, Jessalyn Killilee, Raegan Rawls, Jason D. Tucker, Anthony Blaeser, and Qi Long Lu. "Ribitol dose-dependently enhances matriglycan expression and improves muscle function with prolonged life span in limb girdle muscular dystrophy 2I mouse model." PLOS ONE 17, no. 12 (December 1, 2022): e0278482. http://dx.doi.org/10.1371/journal.pone.0278482.
Повний текст джерелаDewell, Richard B., and Fabrizio Gabbiani. "Active membrane conductances and morphology of a collision detection neuron broaden its impedance profile and improve discrimination of input synchrony." Journal of Neurophysiology 122, no. 2 (August 1, 2019): 691–706. http://dx.doi.org/10.1152/jn.00048.2019.
Повний текст джерелаPrumes, Marcelo, Talita Dias da Silva, Camila Aparecida de Oliveira Alberissi, Camila Miliani Capellini, Lilian Del Ciello de Menezes, João Batista Francalino da Rocha, Francis Meire Favero, and Carlos Bandeira de Mello Monteiro. "Motor learning through a non-immersive virtual task in people with limb-girdle muscular dystrophies." Journal of Human Growth and Development 30, no. 3 (October 15, 2020): 461–71. http://dx.doi.org/10.7322/jhgd.v30.11115.
Повний текст джерелаMateos-Aierdi, A. J., M. Dehesa-Etxebeste, M. Goicoechea, A. Aiastui, Y. Richaud-Patin, S. Jiménez-Delgado, A. Raya, N. Naldaiz-Gastesi, and A. López de Munain. "Patient-specific iPSC-derived cellular models of LGMDR1." Stem Cell Research 53 (May 2021): 102333. http://dx.doi.org/10.1016/j.scr.2021.102333.
Повний текст джерелаAlbuquerque, Keila Maruze de França, Isabella Araújo Mota, Larissa Nadjara Alves Almeida, Maria Lucrécia Golveia, Priscilla Alves Nóbrega Gambarra Souto, and Alzira Alves de Siqueira Carvalho. "Disfunções na motricidade orofacial em pacientes com Distrofia Muscular de Cinturas R2 por deficiência de disferlina." VITTALLE - Revista de Ciências da Saúde 32, no. 3 (December 22, 2020): 128–33. http://dx.doi.org/10.14295/vittalle.v32i3.12086.
Повний текст джерелаFerrans, C. E. "Differences in What Quality-of-Life Instruments Measure." JNCI Monographs 2007, no. 37 (October 1, 2007): 22–26. http://dx.doi.org/10.1093/jncimonographs/lgm008.
Повний текст джерелаDewell, Richard B., and Fabrizio Gabbiani. "M current regulates firing mode and spike reliability in a collision-detecting neuron." Journal of Neurophysiology 120, no. 4 (October 1, 2018): 1753–64. http://dx.doi.org/10.1152/jn.00363.2018.
Повний текст джерелаFindlay, Andrew R., Rocio Bengoechea, Sara K. Pittman, Tsui-Fen Chou, Heather L. True, and Conrad C. Weihl. "Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D." Neurology Genetics 5, no. 2 (April 2019): e318. http://dx.doi.org/10.1212/nxg.0000000000000318.
Повний текст джерелаNeudecker, S., M. Deschauer, and M. Krasnianski. "Die Gliedergürtelmuskeldystrophie vom Typ 2I." Nervenheilkunde 23, no. 08 (2004): 438–41. http://dx.doi.org/10.1055/s-0038-1626404.
Повний текст джерелаSan Millan, B., S. Ortolano, S. Teijeira, J. Gamez, A. Andreu, R. Marti, and C. Navarro. "LGMD1F: A morphological study." Neuromuscular Disorders 25 (October 2015): S236. http://dx.doi.org/10.1016/j.nmd.2015.06.186.
Повний текст джерелаRenard, Dimitri, Carla Fernandez, Celine Bouchet-Seraphin, and Pierre Labauge. "Cortical heterotopia in LGMD2I." Neuromuscular Disorders 22, no. 5 (May 2012): 443–44. http://dx.doi.org/10.1016/j.nmd.2011.11.005.
Повний текст джерелаRichard, I., L. Brenguier, B. Bady, M. Fardeau, C. A. Garcia, C. E. Jackson, D. M. Kurnit, et al. "Survey of LGMD2A mutations." Neuromuscular Disorders 6, no. 2 (March 1996): S9. http://dx.doi.org/10.1016/0960-8966(96)88964-4.
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