PMC Articles for MedGen (Select 866482) - PMC

Links from MedGen

Items: 1 to 20 of 158

<< First< Prev

Page of 8

Select item 29567171.

Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers

Noel Peretti, Agnès Sassolas, Claude C Roy, Colette Deslandres, Mathilde Charcosset, Justine Castagnetti, Laurence Pugnet-Chardon, Philippe Moulin, Sylvie Labarge, Lise Bouthillier, Alain Lachaux, Emile Levy

Orphanet J Rare Dis. 2010; 5: 24. Published online 2010 Sep 29. doi: 10.1186/1750-1172-5-24

PMCID:: PMC2956717

Article PubReader PDF–2.0M Cite

Select item 105794792.

Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

Maria Justel, Cristina Jou, Andrea Sariego-Jamardo, Natalia Alexandra Juliá-Palacios, Carlos Ortez, Maria Luisa Poch, Antonio Hedrera-Fernandez, Hilario Gomez-Martin, Anna Codina, Jana Dominguez-Carral, Jordi Muxart, Aurelio Hernández-Laín, Sara Vila-Bedmar, Miren Zulaica, Ramon Cancho-Candela, Margarita del Carmen Castro, Alberto de la Osa-Langreo, Alfonso Peña-Valenceja, Elena Marcos-Vadillo, Pablo Prieto-Matos, Samuel Ignacio Pascual-Pascual, Adolfo López de Munain, Ana Camacho, Berta Estevez-Arias, Uliana Musokhranova, Mireia Olivella, Alfonso Oyarzábal, Cecilia Jimenez-Mallebrera, Cristina Domínguez-González, Andrés Nascimento, Àngels García-Cazorla, Daniel Natera-de Benito

J Med Genet. 2023 Oct; 60(10): 965–973. Published online 2023 May 16. doi: 10.1136/jmg-2022-109132

PMCID:: PMC10579479

Article PubReader PDF–3.1M Cite

Select item 105306663.

Searching for Effective Methods of Diagnosing Nervous System Lesions in Patients with Alström and Bardet–Biedl Syndromes

Arleta Waszczykowska, Krzysztof Jeziorny, Dobromiła Barańska, Katarzyna Matera, Aleksandra Pyziak-Skupien, Michał Ciborowski, Agnieszka Zmysłowska

Genes (Basel) 2023 Sep; 14(9): 1784. Published online 2023 Sep 10. doi: 10.3390/genes14091784

PMCID:: PMC10530666

Article PubReader PDF–503K Cite

Select item 103571424.

Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients

Gopikrishnan Unnikrishnan, Kiran Polavarapu, Mainak Bardhan, Saraswati Nashi, Seena Vengalil, Veeramani Preethish-Kumar, Ravi Kiran Valasani, Akshata Huddar, Vikas Nishadham, Bevinahalli Nanjegowda Nandeesh, Atchayaram Nalini

J Neuromuscul Dis. 2023; 10(4): 615–626. Prepublished online 2023 May 2. Published online 2023 Jul 4. doi: 10.3233/JND-221618

PMCID:: PMC10357142

Article PubReader PDF–750K Cite

Select item 102149405.

The fibroblast growth factor 21 concentration in children with mitochondrial disease does not depend on the disease stage, but rather on the disease genotype

Dorota Wesół-Kucharska, Dariusz Rokicki, Milena Greczan, Magdalena Kaczor, Edyta Czkuć-Kryśkiewicz, Dorota Piekutowska-Abramczuk, Paulina Halat-Wolska, Elżbieta Ciara, Maciej Jaworski, Aleksandra Jezela-Stanek

Pediatr Endocrinol Diabetes Metab. 2022 Jun; 28(2): 141–151. Published online 2022 May 12. doi: 10.5114/pedm.2022.116116

PMCID:: PMC10214940

Article PubReader PDF–620K Cite

Select item 99643676.

Dystrophin (DMD) Missense Variant in Cats with Becker-Type Muscular Dystrophy

Stephanie Hilton, Matthias Christen, Thomas Bilzer, Vidhya Jagannathan, Tosso Leeb, Urs Giger

Int J Mol Sci. 2023 Feb; 24(4): 3192. Published online 2023 Feb 6. doi: 10.3390/ijms24043192

PMCID:: PMC9964367

Article PubReader PDF–1.8M Cite

Select item 99562537.

GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders

Pitcha Chompoopong, Margherita Milone

Genes (Basel) 2023 Feb; 14(2): 372. Published online 2023 Jan 31. doi: 10.3390/genes14020372

PMCID:: PMC9956253

Article PubReader PDF–10M Cite

Select item 99090538.

Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder

Christina G. Tise, Melinda J. Palma, Kristina P. Cusmano-Ozog, Dena R. Matalon

J Investig Med High Impact Case Rep. 2023 Jan-Dec; 11: 23247096231154438. Published online 2023 Feb 8. doi: 10.1177/23247096231154438

PMCID:: PMC9909053

Article PubReader PDF–386K Cite

Select item 98630509.

Yipeng Pang, Yushi Wang, Xinyu Zhou, Zhu Ni, Wenjing Chen, Yi Liu, Wenlong Du

Int J Mol Sci. 2023 Jan; 24(2): 1464. Published online 2023 Jan 11. doi: 10.3390/ijms24021464

PMCID:: PMC9863050

Article PubReader PDF–4.2M Cite

Select item 950291210.

Renal Transcriptome and Metabolome in Mice with Principal Cell-Specific Ablation of the Tsc1 Gene: Derangements in Pathways Associated with Cell Metabolism, Growth and Acid Secretion

Kamyar Zahedi, Sharon Barone, Marybeth Brooks, Tracy Murray Stewart, Robert A. Casero, Jr., Manoocher Soleimani

Int J Mol Sci. 2022 Sep; 23(18): 10601. Published online 2022 Sep 13. doi: 10.3390/ijms231810601

PMCID:: PMC9502912

Article PubReader PDF–2.6M Cite

Select item 945652011.

Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene

Francesca Magri, Simona Zanotti, Sabrina Salani, Francesco Fortunato, Patrizia Ciscato, Simonetta Gerevini, Lorenzo Maggi, Monica Sciacco, Maurizio Moggio, Stefania Corti, Nereo Bresolin, Giacomo Pietro Comi, Dario Ronchi

Int J Mol Sci. 2022 Sep; 23(17): 9817. Published online 2022 Aug 29. doi: 10.3390/ijms23179817

PMCID:: PMC9456520

Article PubReader PDF–1.3M Cite

Select item 943494012.

Delayed diagnosis of complex glycerol kinase deficiency in a Chinese male infant: a case report

Na Tao, Xiaomei Liu, Yueqi Chen, Meiyuan Sun, Fang Xu, Yanfang Su

BMC Pediatr. 2022; 22: 517. Published online 2022 Sep 1. doi: 10.1186/s12887-022-03568-9

PMCID:: PMC9434940

Article PubReader PDF–919K Cite

Select item 928849713.

Acylcarnitines and Genetic Variation in Fat Oxidation Genes in HIV-infected, Antiretroviral-treated Children With and Without Myopathy

Brian Kirmse, Charlotte Hobbs, Lisa Aaron, Grace Montepiedra, Marshall Summar, Paige L. Williams, Caitlin J. Smith, Russell Van Dyke, Chunli Yu, Kelli K. Ryckman, William Borkowsky, Pediatric HIV/AIDS Cohort Study (PHACS)

Pediatr Infect Dis J. Author manuscript; available in PMC 2023 Aug 1.

Published in final edited form as: Pediatr Infect Dis J. 2022 Aug 1; 41(8): e306–e311. Published online 2022 Jul 13. doi: 10.1097/INF.0000000000003586

PMCID:: PMC9288497

Article PubReader PDF–104K Cite

Select item 909603314.

Dystrophin-deficient muscular dystrophy in a Toy Poodle with a single base pair insertion in exon 45 of the Duchenne muscular dystrophy gene

Kosei SAKAI, Tomoki MOTEGI, James Ken CHAMBERS, Kazuyuki UCHIDA, Hidetaka NISHIDA, Shunsuke SHIMAMURA, Hiroyuki TANI, Terumasa SHIMADA, Masaru FURUYA

J Vet Med Sci. 2022 Apr; 84(4): 502–506. Published online 2022 Feb 8. doi: 10.1292/jvms.21-0504

PMCID:: PMC9096033

Article PubReader PDF–1.9M Cite

Select item 901993615.

Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)

H. Mosbah, B. Donadille, C. Vatier, S. Janmaat, M. Atlan, C. Badens, P. Barat, S. Béliard, J. Beltrand, R. Ben Yaou, E. Bismuth, F. Boccara, B. Cariou, M. Chaouat, G. Charriot, S. Christin-Maitre, M. De Kerdanet, B. Delemer, E. Disse, N. Dubois, B. Eymard, B. Fève, O. Lascols, P. Mathurin, E. Nobécourt, A. Poujol-Robert, G. Prevost, P. Richard, J. Sellam, I. Tauveron, D. Treboz, B. Vergès, V. Vermot-Desroches, K. Wahbi, I. Jéru, M. C. Vantyghem, C. Vigouroux

Orphanet J Rare Dis. 2022; 17(Suppl 1): 170. Published online 2022 Apr 19. doi: 10.1186/s13023-022-02308-7

PMCID:: PMC9019936

Article PubReader PDF–1.3M Cite

Select item 896390816.

Muscular Dystrophy-Dystroglycanopathy in a Family of Labrador Retrievers with a LARGE 1 Mutation

G. Diane Shelton, Katie M. Minor, Ling T. Guo, Steven G. Friedenberg, Jonah N. Cullen, Jeffrey M. Hord, David Venzke, Mary E. Anderson, Megan Devereaux, Sally J. Prouty, Caryl Handelman, Kevin P. Campbell, James R. Mickelson

Neuromuscul Disord. Author manuscript; available in PMC 2022 Nov 1.

Published in final edited form as: Neuromuscul Disord. 2021 Nov; 31(11): 1169–1178. Published online 2021 Jul 28. doi: 10.1016/j.nmd.2021.07.016

PMCID:: PMC8963908

Article PubReader PDF–1.7M Cite

Select item 894331417.

Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature

Xiaoli Pan, Yuan Yuan, Bangcui Wu, Wendan Zheng, Mei Tian

J Int Med Res. 2022 Mar; 50(3): 03000605221084873. Published online 2022 Mar 17. doi: 10.1177/03000605221084873

PMCID:: PMC8943314

Article PubReader PDF–489K Cite

Select item 891353718.

Involvement of Abnormal Gut Microbiota Composition and Function in Doxorubicin-Induced Cardiotoxicity

Jie Huang, Shanshan Wei, Chuanhao Jiang, Zijun Xiao, Jian Liu, Weijun Peng, Bikui Zhang, Wenqun Li

Front Cell Infect Microbiol. 2022; 12: 808837. Published online 2022 Feb 25. doi: 10.3389/fcimb.2022.808837

PMCID:: PMC8913537

Article PubReader PDF–7.0M Cite

Select item 891138119.

Generation of a Dystrophin Mutant in Dog by Nuclear Transfer Using CRISPR/Cas9-Mediated Somatic Cells: A Preliminary Study

Hyun Ju Oh, Eugene Chung, Jaehwan Kim, Min Jung Kim, Geon A. Kim, Seok Hee Lee, Kihae Ra, Kidong Eom, Soojin Park, Jong-Hee Chae, Jin-Soo Kim, Byeong Chun Lee

Int J Mol Sci. 2022 Mar; 23(5): 2898. Published online 2022 Mar 7. doi: 10.3390/ijms23052898

PMCID:: PMC8911381

Article PubReader PDF–2.1M Cite

Select item 872669820.

CREG1 improves the capacity of the skeletal muscle response to exercise endurance via modulation of mitophagy

HaiXu Song, Xiaoxiang Tian, Dan Liu, Meili Liu, Yanxia Liu, Jing Liu, Zhu Mei, Chenghui Yan, Yaling Han

Autophagy. 2021; 17(12): 4102–4118. Published online 2021 Apr 18. doi: 10.1080/15548627.2021.1904488

PMCID:: PMC8726698

Article PubReader PDF–5.5M Cite

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 158

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity