Search Results - "Muscular Dystrophy"

Can Human Embryonic Stem Cell-Derived Stromal Cells Serve a Starting Material for Myoblasts? by Yu Ando, Marie Saito, Masakazu Machida, Chikako Yoshida-Noro, Hidenori Akutsu, Masataka Takahashi, Masashi Toyoda, Akihiro Umezawa

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Persistent Hypertransaminasemia Uncovered Occult Limb-Girdle-Muscle Dystrophy-Type-2C in a Saudi Child by Naglaa M. Kamal, Hamed A. Alghamdi, Abdulrahman Halabi, Abdullah O. Alharbi, Muhammad Rafique, Kamel Abidi, Mortada H.H. El-Shabrawi, Ayman E. Eskander, Hala Mansour, Laila M. Sherief

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LMNA cardiomyopathy: cell biology and genetics meet clinical medicine by Jonathan T. Lu, Antoine Muchir, Peter L. Nagy, Howard J. Worman

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Genetically engineered pigs as models for human disease by Carolin Perleberg, Alexander Kind, Angelika Schnieke

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Manifesting Pediatric Carrier of Isolated Dystrophinopathy with Initial Presentation of Myalgia and Persistent HyperCKemia by Chien-Hua Wang, Wen-Chen Liang, Yi-Ning Su, Wen-Chieh Lee, Ching-Chyuan Su, Yuh-Jyh Jong

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Beware of missed diagnosis in patients with multiple genetic diseases: a case report by Detong Guo, Xuemei Li, Nan Liu, Xiaoli Yu, Jianbo Shu, Wenchao Sheng, Dong Li, Chunquan Cai

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Surgical Orthodontic Treatment of a Patient Affected by Type 1 Myotonic Dystrophy (Steinert Syndrome) by Laura Cacucci, Beatrice Ricci, Maria Moretti, Giulio Gasparini, Sandro Pelo, Cristina Grippaudo

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Prenatal Diagnosis of Lissencephaly Type 2 using Three-dimensional Ultrasound and Fetal MRI: Case Report and Review of the Literature by Gabriele Tonni, Pierpaolo Pattacini, Maria Paola Bonasoni, Edward Araujo Júnior

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Proteomic reference map for sarcopenia research: mass spectrometric identification of key muscle proteins located in the sarcomere, cytoskeleton and the extracellular matrix by Paul Dowling, Stephen Gargan, Margit Zweyer, Michael Henry, Paula Meleady, Dieter Swandulla, Kay Ohlendieck

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Hypoglycemia detected during cardiac arrest of a non-diabetic patient with heart failure by İnci Tuğçe Çöllüoğlu, Hüseyin Dursun, Mete Yılmaz, Asım Oktay Ergene

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Taurine Enhances Iron-Related Proteins and Reduces Lipid Peroxidation in Differentiated C2C12 Myotubes by Ulrike Seidel, Kai Lüersen, Patricia Huebbe, Gerald Rimbach

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Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases by Liqing Chen, Xiaoping Luo, Hongling Wang, Yu Tian, Yan Liu

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Moving neuromuscular disorders research forward: from novel models to clinical studies by Maaike van Putten, Julija Hmeljak, Annemieke Aartsma-Rus, James J. Dowling

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Loss of function of Colgalt1 disrupts collagen post-translational modification and causes musculoskeletal defects by Krista A. Geister, Alberto Jose Lopez-Jimenez, Scott Houghtaling, Tzu-Hua Ho, Roberto Vanacore, David R. Beier

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Rational Design of Short Locked Nucleic Acid-Modified 2'-O-Methyl Antisense Oligonucleotides for Efficient Exon-Skipping In Vitro by Bao T. Le, Abbie M. Adams, Susan Fletcher, Stephen D. Wilton, Rakesh N. Veedu

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Lack of dystrophin influences muscle inflammation but not myogenic regulatory factors after eccentric exercise in mdx mice by Mariana Cruz Lazzarin, Hananiah Tardivo Quintana, Vivianne Izabelle de Araújo Baptista, Flavia de Oliveira

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Decoding the genetics of rare disease: an interview with Monkol Lek by Monkol Lek

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In silico pharmacodynamics, toxicity profile and biological activities of the Saharan medicinal plant Limoniastrum feei by Ouahab Ammar

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Acute Respiratory Failure in Children: A Clinical Update on Diagnosis by Beatrice Panetti, Ilaria Bucci, Armando Di Ludovico, Giulia Michela Pellegrino, Paola Di Filippo, Sabrina Di Pillo, Francesco Chiarelli, Marina Attanasi, Giuseppe Francesco Sferrazza Papa

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Abscesso renal em pediatria - desafios para o diagnóstico e manejo: relato de caso by Alexandre Neves da Rocha Santos, Maria Cristina Andrade, Eduardo Freitas Hatanaka

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