Showing results (1-10 of 158) with videos related to
Sort By:
Pageof 16
Current Opinion in Hematology|May 31, 2023
Chediak-Higashi syndromeMackenzie L Talbert, May Christine V Malicdan, Wendy J IntroneDrug Discovery Today. Disease Models|January 11, 2021
Chediak-Higashi syndrome: a review of the past, present, and futurePrashant Sharma, Elena-Raluca Nicoli, Jenny Serra-Vinardell, et al.Seminars in Pediatric Neurology|December 2, 2024
Chedíak-Higashi Syndrome: Hair-to-toe spectrumSunny Greene, Ariane Soldatos, Camilo Toro, et al.Neurology India|November 1, 2008
Distal myopathies a review: highlights on distal myopathies with rimmed vacuolesMay Christine V Malicdan, Ikuya NonakaBrain Pathology (Zurich, Switzerland)|December 14, 2011
Autophagy in lysosomal myopathiesMay Christine V Malicdan, Ichizo NishinoHuman Genetics|October 25, 2024
Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic featuresPrashant Sharma, Jason R McFadden, F Graeme Frost, et al.Communications Biology|July 18, 2025
A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotypeSunny Greene, Mackenzie L Talbert, F Graeme Frost, et al.Therapeutic Advances in Neurological Disorders|December 24, 2010
A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy, a sugar-deficient myopathy: a reviewMay Christine V Malicdan, Satoru Noguchi, Ichizo NishinoBrain and Nerve = Shinkei Kenkyu No Shinpo|June 16, 2010
[Animal model of distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy and preclinical trial with sugar compounds]Satoru Noguchi, May Christine V Malicdan, Ichizo NishinoCurrent Opinion in Neurology|September 5, 2008
Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectivesMay Christine V Malicdan, Satoru Noguchi, Ichizo NishinoPageof 16