Zobrazeno 1 - 10
of 4 348
pro vyhledávání: '"Congenital muscular dystrophy"'
Autor:
Megumi Yokomizo-Goto, Nana Takenaka-Ninagawa, Chengzhu Zhao, Clémence Kiho Bourgeois Yoshioka, Mayuho Miki, Souta Motoike, Yoshiko Inada, Denise Zujur, William Theoputra, Yonghui Jin, Junya Toguchida, Makoto Ikeya, Hidetoshi Sakurai
Publikováno v:
Stem Cell Research & Therapy, Vol 15, Iss 1, Pp 1-19 (2024)
Abstract Background Ullrich congenital muscular dystrophy (UCMD) is caused by a deficiency in type 6 collagen (COL6) due to mutations in COL6A1, COL6A2, or COL6A3. COL6 deficiency alters the extracellular matrix structure and biomechanical properties
Externí odkaz:
https://doaj.org/article/f340ceaf0581411496358769fb395f06
Autor:
Fawzya Aref, MD, Amin Shaaban, MD, Abouelhassan Ahmed, MD, Maram Gubari, MBBS, Jood Hassan, MBBS, Mussaed Alharbi, MBBS, Kholod Alsubhi, MBBS, Kareem Alsalhi, MBBS, Shama Albalawi, MBBS, Mohamad Ali, MBBS, Hiba Ali, MBBS, Najla Filfilan, MBBS, Elaf Shmailah, MBBS, Attallah Ahmed
Publikováno v:
Radiology Case Reports, Vol 19, Iss 11, Pp 5063-5065 (2024)
Walker-Warburg Syndrome is a genetically heterogeneous disease with autosomal recessive inheritance characterized by brain and eye deformities, profound mental retardation, congenital muscular dystrophy, and early death. This case study demonstrates
Externí odkaz:
https://doaj.org/article/c1f92fb874984fc4baeeffd55e9ae17e
Autor:
Dong-Won Seol, Byoung-Jin Park, Deog-Bon Koo, Ji-Su Kim, Yong-Hyun Jeon, Jae-Eon Lee, Joon-Suk Park, Hoon Jang, Gabbine Wee
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 5, Pp 3752-3762 (2024)
Rat animal models are widely used owing to their relatively superior cognitive abilities and higher similarity compared with mouse models to human physiological characteristics. However, their use is limited because of difficulties in establishing em
Externí odkaz:
https://doaj.org/article/5880472cb97c461a8900774c54fd234a
Autor:
Haluk Topaloğlu, Bita Poorshiri
Publikováno v:
Annals of the Child Neurology Society, Vol 2, Iss 1, Pp 27-39 (2024)
Abstract Background Congenital muscular dystrophies (CMDs) are genetically and clinically heterogeneous inherited conditions. Onset is typically within the first year of life. Most CMDs are autosomal recessive, except for de novo dominant mutations i
Externí odkaz:
https://doaj.org/article/b1107f8e8aff492683b932de090e6c54
Akademický článek
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Akademický článek
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Autor:
Manuela Moriggi, Enrica Torretta, Matilde Cescon, Loris Russo, Ilaria Gregorio, Paola Braghetta, Patrizia Sabatelli, Cesare Faldini, Luciano Merlini, Cesare Gargioli, Paolo Bonaldo, Cecilia Gelfi, Daniele Capitanio
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 13, p 7118 (2024)
Pericytes are a distinct type of cells interacting with endothelial cells in blood vessels and contributing to endothelial barrier integrity. Furthermore, pericytes show mesenchymal stem cell properties. Muscle-derived pericytes can demonstrate both
Externí odkaz:
https://doaj.org/article/4214af8259e44f6fa471124b64b1c968
Autor:
Hitomi Fujita
Publikováno v:
Pediatric Reports, Vol 15, Iss 3, Pp 403-413 (2023)
Recently, motorized mobility devices (or power mobility devices (PMDs)) have been introduced for infants and toddlers who lack the means for self-mobility. Previous reports have primarily focused on PMDs for individuals with cerebral palsy. Few have
Externí odkaz:
https://doaj.org/article/b78067de1cea4b79b32005534b81e9a8
Autor:
Youssef El Kadiri, Ilham Ratbi, Mouna Ouhenach, Siham Chafai Elalaoui, Imane Cherkaoui Jaouad, Abdelali Zrhidri, Maryem Sahli, Nazha Birouk, Abdelaziz Sefiani, Jaber Lyahyai
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-17 (2023)
Abstract Background Congenital muscular dystrophies (CMD) and congenital myopathies (CM) are clinically and genetically heterogeneous groups of neuromuscular disorders resulting in prenatal or early-onset hypotonia, muscle weakness, myogenic pattern,
Externí odkaz:
https://doaj.org/article/0aac02b2513d4411aa5311dea64c94a8
Autor:
Victor Morel, Frédérique Audic, Charlotte Tardy, Annie Verschueren, Shahram Attarian, Karine Nguyen, Emmanuelle Salort-Campana, Martin Krahn, Brigitte Chabrol, Svetlana Gorokhova
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Collagen type VI-related dystrophies (COL6-RD) are rare diseases with a wide phenotypic spectrum ranging from severe Ullrich’s congenital muscular dystrophy Ullrich congenital muscular dystrophy to much milder Bethlem myopathy Both dominant and rec
Externí odkaz:
https://doaj.org/article/1022638a6b0345fdaf9d6b75b3f39571