Katz Martin L相关文献与解析，生知库 | 链接生命科学的每一步

Canine Neuronal Ceroid Lipofuscinosis-like Disorder Associated with Sequence Variants in AP3B1 and TRAPPC9.

与 AP3B1 和 TRAPPC9 序列变异相关的犬神经元蜡样脂褐质沉积症样疾病。

期刊:Genes

影响因子:2.8

doi:10.3390/genes16111370

Then Alexander, Welly Rebecca, Bullock Garrett, Chevallier Lucie, Katz Martin L

Retinal Function Deficits in American Staffordshire Terriers with a Late-Onset Neurodegenerative Disease Associated with an ARSG Variant

与ARSG变异相关的晚发性神经退行性疾病的美国斯塔福郡梗犬的视网膜功能缺陷

期刊:Veterinary Sciences

影响因子:2.3

doi:10.3390/vetsci12111078

Kick, Grace R; Marzano, Samantha L; Ota-Kuroki, Juri; Bullock, Garrett; Katz, Martin L

神经科学

发表日期：2025

文献求助收藏

Absence of FGF4 Retrogene Insertion on Chromosome 18 Results in a Tall Phenotype in Grand Basset Griffon Vendéen Dogs

18号染色体上FGF4逆转录基因插入的缺失导致大巴塞特格里芬犬出现高大表型

期刊:Veterinary Sciences

影响因子:2.3

doi:10.3390/vetsci12090916

Mhlanga-Mutangadura, Tendai; Hansen, Liz; Katz, Martin L

发表日期：2025

文献求助收藏

FAN1 Deletion Variant in Basenji Dogs with Fanconi Syndrome

巴辛吉犬范可尼综合征中的FAN1缺失变异

期刊:Genes

影响因子:2.8

doi:10.3390/genes15111469

Farias, Fabiana H G; Mhlanga-Mutangadura, Tendai; Guo, Juyuan; Hansen, Liz; Johnson, Gary S; Katz, Martin L

发表日期：2024

文献求助收藏

Canine Multiple System Degeneration Associated with Sequence Variants in SERAC1

犬多系统退行性疾病与SERAC1基因序列变异相关

期刊:Genes

影响因子:2.8

doi:10.3390/genes15111378

Zeng, Rong; Guo, Juyan; Bullock, Garrett; Johnson, Gary S; Katz, Martin L

Beta-mannosidosis in a domestic cat associated with a missense variant in MANBA

家猫β-甘露糖苷酶缺乏症与MANBA基因错义变异相关

期刊:Gene

影响因子:2.4

doi:10.1016/j.gene.2023.147941

Katz, Martin L; Cook, James; Vite, Charles H; Campbell, Rebecca S; Coghill, Lyndon M; Lyons, Leslie A

发表日期：2024

文献求助收藏

Novel COL5A1 variants and associated disease phenotypes in dogs with classical Ehlers-Danlos syndrome

犬类经典埃勒斯-当洛斯综合征中新型COL5A1变异体及其相关疾病表型

期刊:Journal of Veterinary Internal Medicine

影响因子:2.2

doi:10.1111/jvim.17180

Bullock, Garrett; Jaffey, Jared A; Cohn, Leah A; Sox, Erika; Hostnik, Eric T; Hutcheson, Kyle D; Matero, Erin; Hoffmann, Karen S; Johnson, Gary S; Katz, Martin L

A Homozygous MAN2B1 Missense Mutation in a Doberman Pinscher Dog with Neurodegeneration, Cytoplasmic Vacuoles, Autofluorescent Storage Granules, and an α-Mannosidase Deficiency

杜宾犬携带纯合MAN2B1错义突变，出现神经退行性变、细胞质空泡、自发荧光贮积颗粒和α-甘露糖苷酶缺乏症

期刊:Genes

影响因子:2.8

doi:10.3390/genes14091746

Bullock, Garrett; Johnson, Gary S; Pattridge, Savannah G; Mhlanga-Mutangadura, Tendai; Guo, Juyuan; Cook, James; Campbell, Rebecca S; Vite, Charles H; Katz, Martin L

Intravitreal gene therapy preserves retinal function in a canine model of CLN2 neuronal ceroid lipofuscinosis

玻璃体内基因治疗可保护犬CLN2神经元蜡样脂褐质沉积症模型中的视网膜功能。

期刊:Experimental Eye Research

影响因子:2.7

doi:10.1016/j.exer.2022.109344

Kick, Grace Robinson; Whiting, Rebecca E H; Ota-Kuroki, Juri; Castaner, Leilani J; Morgan-Jack, Brandie; Sabol, Julianna C; Meiman, Elizabeth J; Ortiz, Francheska; Katz, Martin L

An RB1CC1 Missense Variant in Nova Scotia Duck Tolling Retrievers with Degenerative Encephalopathy

新斯科舍猎鸭寻回犬的RB1CC1错义变异与退行性脑病有关

Canine Neuronal Ceroid Lipofuscinosis-like Disorder Associated with Sequence Variants in AP3B1 and TRAPPC9.

与 AP3B1 和 TRAPPC9 序列变异相关的犬神经元蜡样脂褐质沉积症样疾病。

Retinal Function Deficits in American Staffordshire Terriers with a Late-Onset Neurodegenerative Disease Associated with an ARSG Variant

与ARSG变异相关的晚发性神经退行性疾病的美国斯塔福郡梗犬的视网膜功能缺陷

Absence of FGF4 Retrogene Insertion on Chromosome 18 Results in a Tall Phenotype in Grand Basset Griffon Vendéen Dogs

18号染色体上FGF4逆转录基因插入的缺失导致大巴塞特格里芬犬出现高大表型

FAN1 Deletion Variant in Basenji Dogs with Fanconi Syndrome

巴辛吉犬范可尼综合征中的FAN1缺失变异

Canine Multiple System Degeneration Associated with Sequence Variants in SERAC1

犬多系统退行性疾病与SERAC1基因序列变异相关

Beta-mannosidosis in a domestic cat associated with a missense variant in MANBA

家猫β-甘露糖苷酶缺乏症与MANBA基因错义变异相关

Novel COL5A1 variants and associated disease phenotypes in dogs with classical Ehlers-Danlos syndrome

犬类经典埃勒斯-当洛斯综合征中新型COL5A1变异体及其相关疾病表型

A Homozygous MAN2B1 Missense Mutation in a Doberman Pinscher Dog with Neurodegeneration, Cytoplasmic Vacuoles, Autofluorescent Storage Granules, and an α-Mannosidase Deficiency

杜宾犬携带纯合MAN2B1错义突变，出现神经退行性变、细胞质空泡、自发荧光贮积颗粒和α-甘露糖苷酶缺乏症

Intravitreal gene therapy preserves retinal function in a canine model of CLN2 neuronal ceroid lipofuscinosis

玻璃体内基因治疗可保护犬CLN2神经元蜡样脂褐质沉积症模型中的视网膜功能。