Zobrazeno 1 - 10
of 144
pro vyhledávání: '"Martin L, Katz"'
Autor:
Garrett Bullock, Jared A. Jaffey, Leah A. Cohn, Erika Sox, Eric T. Hostnik, Kyle D. Hutcheson, Erin Matero, Karen S. Hoffmann, Gary S. Johnson, Martin L. Katz
Publikováno v:
Journal of Veterinary Internal Medicine, Vol 38, Iss 5, Pp 2431-2443 (2024)
Abstract Background Human patients with Ehlers‐Danlos syndrome (EDS) are categorized into subtypes based on causative genetic variants and phenotypes. The classical form of EDS, primarily caused by variants in COL5A1 or COL5A2, is a very common sub
Externí odkaz:
https://doaj.org/article/e3f4160d8c9c4938a6ba6147b1ed522a
Autor:
Kevin Hammon, Greg deHart, Brian R. Vuillemenot, Derek Kennedy, Don Musson, Charles A. O’Neill, Martin L. Katz, Joshua W. Henshaw
Publikováno v:
Clinical and Translational Science, Vol 14, Iss 5, Pp 1810-1821 (2021)
Abstract Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an ultra‐rare pediatric neurodegenerative disorder characterized by deficiency of the lysosomal enzyme tripeptidyl peptidase‐1 (TPP1). In the absence of adequate TPP1, lysosomal sto
Externí odkaz:
https://doaj.org/article/0b3f82eee32841929b398938b7d967e2
Autor:
Martin L. Katz, Reuben M. Buckley, Vanessa Biegen, Dennis P. O’Brien, Gayle C. Johnson, Wesley C. Warren, Leslie A. Lyons
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 10, Iss 8, Pp 2741-2751 (2020)
A neutered male domestic medium-haired cat presented at a veterinary neurology clinic at 20 months of age due to progressive neurological signs that included visual impairment, focal myoclonus, and frequent severe generalized seizures that were refra
Externí odkaz:
https://doaj.org/article/1cae84112ace4772aa7ff870300fe02d
Autor:
Yuanbin Ru, Carley Corado, Russell K. Soon Jr, Andrew C. Melton, Adam Harris, Guoying K. Yu, Nancy Pryer, John R. Sinclair, Martin L. Katz, Temitayo Ajayi, David Jacoby, Chris B. Russell, Sanjay Chandriani
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 12, Pp 2437-2447 (2019)
Abstract Objective Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare, progressive, fatal neurodegenerative pediatric disorder resulting from deficiencies of the lysosomal enzyme tripeptidyl peptidase 1 that are caused by mutations in TPP
Externí odkaz:
https://doaj.org/article/f1502f91d5a84d26a84b4e9377e1f3b7
Autor:
Leonardo Murgiano, Doreen Becker, Dina Torjman, Jessica K. Niggel, Ausra Milano, Cheryl Cullen, Rui Feng, Fan Wang, Vidhya Jagannathan, Sue Pearce-Kelling, Martin L. Katz, Tosso Leeb, Gustavo D. Aguirre
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 9, Iss 2, Pp 425-437 (2019)
Rod and cone photoreceptors are specialized retinal neurons that have a fundamental role in visual perception, capturing light and transducing it into a neuronal signal. Aberrant functioning of rod and/or cone photoreceptors can ultimately lead to pr
Externí odkaz:
https://doaj.org/article/b360b93802cd41f18edb473e292b5ad5
Autor:
Martin L. Katz, Eline Rustad, Grace O. Robinson, Rebecca E.H. Whiting, Jeffrey T. Student, Joan R. Coates, Kristina Narfstrom
Publikováno v:
Neurobiology of Disease, Vol 108, Iss , Pp 277-287 (2017)
The neuronal ceroid lipofuscinoses (NCLs) are devastating inherited progressive neurodegenerative diseases, with most forms having a childhood onset of clinical signs. The NCLs are characterized by progressive cognitive and motor decline, vision loss
Externí odkaz:
https://doaj.org/article/20e842c6e9f6405fb3b4dc3629b5ad23
Autor:
Juyuan Guo, Gary S. Johnson, James Cook, Olivia K. Harris, Tendai Mhlanga-Mutangadura, Robert D. Schnabel, Cheryl A. Jensen, Martin L. Katz
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)
Two littermate German Shorthaired Pointers, a male and a female, were adopted as puppies from an animal shelter. Both puppies developed normally until approximately 11 months of age when the male began to exhibit neurological signs including ataxia,
Externí odkaz:
https://doaj.org/article/ea67426253354749913d3f9db0965326
Publikováno v:
Developmental Neurobiology. 82:326-344
Golden Retriever dogs with a frameshift variant in CLN5 (c.934_935delAG) suffer from a progressive neurodegenerative disorder analogous to the CLN5 form of neuronal ceroid lipofuscinosis (NCL). Five littermate puppies homozygous for the deletion alle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60e7df845c3304a8fd3f26d0c51da91f
https://doi.org/10.1002/dneu.22878
https://doi.org/10.1002/dneu.22878
Autor:
Tendai Mhlanga-Mutangadura, Gary S. Johnson, Robert D. Schnabel, Jeremy F. Taylor, Gayle C. Johnson, Martin L. Katz, G. Diane Shelton, Teresa E. Lever, Elizabeth Giuliano, Nicolas Granger, Jeremy Shomper, Dennis P. O'Brien
Publikováno v:
Neurobiology of Disease, Vol 86, Iss , Pp 75-85 (2016)
An autosomal recessive disease of Black Russian Terriers was previously described as a juvenile-onset, laryngeal paralysis and polyneuropathy similar to Charcot Marie Tooth disease in humans. We found that in addition to an axonal neuropathy, affecte
Externí odkaz:
https://doaj.org/article/8b873ac3eb8d4cee993426dcab25ef8e
Autor:
Jared A. Jaffey, Garrett Bullock, Juyuan Guo, Tendai Mhlanga-Mutangadura, Dennis P. O’Brien, Joan R. Coates, Rochelle Morrissey, Robert Hutchison, Kevin S. Donnelly, Leah A. Cohn, Martin L. Katz, Gary S. Johnson
Publikováno v:
Genes; Volume 13; Issue 11; Pages: 2158
Tissue fragility, skin hyperextensibility and joint hypermobility are defining characteristics of Ehlers–Danlos syndrome (EDS). Human EDS is subclassified into fourteen types including dermatosparactic EDS, characterized by extreme skin fragility a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49747682916184a0486130e4e61ea646