Results 61 to 70 of about 2,516,635 (116)

Gene Allen Oral History (part 1)

Gene Allen, Art Director of "My Fair Lady", "A Star is Born", and "Les Girls".

core  

Challenging Diagnosis of a Patient with Two Novel Variants in the SYNE1 Gene

We report a case of SYNE1-associated autosomal recessive spinocerebellar ataxia (SCAR8) presenting with a complex multisystemic phenotype, including highly elevated creatine kinase levels and lower-leg muscle atrophy. In addition to identifying two novel
Kuchina, Anna, Murtazina, Aysylu, Subbotin, Dmitrii, Borovikov, Artem, Artem Borovikov, Nikolaeva, Aleksandra, Dmitrii Subbotin, Maria Akhkiamova, Olga Shchagina, Anna Kuchina, Bardakov, Sergey, Sergey Bardakov, Sergey Kutsev, Shchagina, Olga, Aleksandra Nikolaeva, Kutsev, Sergey, Akhkiamova, Maria, Aysylu Murtazina   +17 more
core   +1 more source

Gene Allen Oral History (part 2)

Gene Allen, Art Director of "My Fair Lady", "A Star is Born", and "Les Girls".

core  

Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy. [PDF]

Saudi Med J, 2017
Ullah MI, Ahmad A, Zarkovic M, Shah SS, Nasir A, Mahmood S, Ahmad W, Hubner CA, Hassan MJ.   +8 more
europepmc   +1 more source

<i>DYSF </i>gene variant spectrum in Arab populations across eight countries: A systematic review. [PDF]

Biomol Biomed
Smaili F, Zerrouki K, Aouni FE, Tajir M.
europepmc   +1 more source

Neuroimaging Applications for the Delivery and Monitoring of Gene Therapy for Central Nervous System Diseases

Neurological disease due to single gene defects represents a targetable entity for adeno-associated virus (AAV) mediated gene therapy. The delivery of AAV-mediated gene therapy to the brain is challenging, owing to the presence of the blood-brain barrier.
Vardar, Zeynep, Gray-Edwards, Heather L, Daci, Rrita, Flotte, Terence R, Shazeeb, Mohammed Salman, Cataltepe, Oguz I, Vachha, Behroze   +6 more
core   +1 more source

Peptide-phosphorodiamidate morpholino oligomer therapy for dysferlinopathy induces pseudoexon skipping and restoration of functional protein. [PDF]

JCI Insight
Gooding JE, Park G, Wagh A, Watts JK, Dominov JA, Brown RH.   +5 more
europepmc   +1 more source

Excess muscle plasma membrane leak disrupts ECM content and shifts macrophage-mediated muscle repair. [PDF]

JCI Insight
Lee G, Fitt AJ, Long AM, Vaught LA, DeBiasse D, Keeble AR, Kwon JM, Page PG, Daher MT, Hadhazy M, Willis AB, Ceja Galindo D, McCabe M, Lantz C, Hansen KC, Crosbie RH, Thorp EB, Demonbreun AR, McNally EM.   +18 more
europepmc   +1 more source

Gene A. Chesley papers

Gene A. Chesley (1935-1981) was a highly regarded scenic designer, theatre historian, and teacher. Chesley taught in the Dramatic Art Deparment at the University of California Davis from 1963 until his death at age 46 in 1981.
Chesley, Gene A.
core  

Accumulation of membrane repair-associated proteins and mature myostatin are novel markers of muscle pathophysiology in Pompe disease. [PDF]

Acta Neuropathol Commun
Babarit C, Jagot S, Schleder C, Deniaud J, Bourgeton T, Lagalice L, Vezzana L, Leroux I, Lardenois A, Evrard B, Dubreil L, Amiaud J, Verrecchia F, Thorin C, Mayeuf-Louchart A, Rouger K, Colle MA, LYSAUMI Consortium.   +17 more
europepmc   +1 more source