Friedenberg SG - Search Results

1

Muscular dystrophy-dystroglycanopathy in a family of Labrador retrievers with a LARGE1 mutation.

Shelton GD, Minor KM, Guo LT, Friedenberg SG, Cullen JN, Hord JM, Venzke D, Anderson ME, Devereaux M, Prouty SJ, Handelman C, Campbell KP, Mickelson JR. Shelton GD, et al. Among authors: friedenberg sg. Neuromuscul Disord. 2021 Nov;31(11):1169-1178. doi: 10.1016/j.nmd.2021.07.016. Epub 2021 Jul 28. Neuromuscul Disord. 2021. PMID: 34654610 Free PMC article.

2

A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death.

Meurs KM, Friedenberg SG, Kolb J, Saripalli C, Tonino P, Woodruff K, Olby NJ, Keene BW, Adin DB, Yost OL, DeFrancesco TC, Lahmers S, Tou S, Shelton GD, Granzier H. Meurs KM, et al. Among authors: friedenberg sg. Hum Genet. 2019 May;138(5):515-524. doi: 10.1007/s00439-019-01973-2. Epub 2019 Feb 4. Hum Genet. 2019. PMID: 30715562

3

A QIL1 Variant Associated with Ventricular Arrhythmias and Sudden Cardiac Death in the Juvenile Rhodesian Ridgeback Dog.

Meurs KM, Friedenberg SG, Olby NJ, Condit J, Weidman J, Rosenthal S, Shelton GD. Meurs KM, et al. Among authors: friedenberg sg. Genes (Basel). 2019 Feb 21;10(2):168. doi: 10.3390/genes10020168. Genes (Basel). 2019. PMID: 30795627 Free PMC article.

4

A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels.

Olby NJ, Friedenberg S, Meurs K, DeProspero D, Guevar J, Lau J, Yost O, Guo LT, Shelton GD. Olby NJ, et al. Neuromuscul Disord. 2020 May;30(5):353-359. doi: 10.1016/j.nmd.2020.02.021. Epub 2020 Mar 5. Neuromuscul Disord. 2020. PMID: 32417001 Free PMC article.

5

Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs.

Bolduc V, Minor KM, Hu Y, Kaur R, Friedenberg SG, Van Buren S, Guo LT, Glennon JC, Marioni-Henry K, Mickelson JR, Bönnemann CG, Shelton GD. Bolduc V, et al. Among authors: friedenberg sg. Neuromuscul Disord. 2020 May;30(5):360-367. doi: 10.1016/j.nmd.2020.03.005. Epub 2020 Apr 16. Neuromuscul Disord. 2020. PMID: 32439203 Free PMC article.

6

A CNTNAP1 Missense Variant Is Associated with Canine Laryngeal Paralysis and Polyneuropathy.

Letko A, Minor KM, Friedenberg SG, Shelton GD, Salvador JP, Mandigers PJJ, Leegwater PAJ, Winkler PA, Petersen-Jones SM, Stanley BJ, Ekenstedt KJ, Johnson GS, Hansen L, Jagannathan V, Mickelson JR, Drögemüller C. Letko A, et al. Among authors: friedenberg sg. Genes (Basel). 2020 Nov 27;11(12):1426. doi: 10.3390/genes11121426. Genes (Basel). 2020. PMID: 33261176 Free PMC article.

7

Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D.

Mickelson JR, Minor KM, Guo LT, Friedenberg SG, Cullen JN, Ciavarella A, Hambrook LE, Brenner KM, Helmond SE, Marks SL, Shelton GD. Mickelson JR, et al. Among authors: friedenberg sg. Skelet Muscle. 2021 Jan 7;11(1):2. doi: 10.1186/s13395-020-00257-y. Skelet Muscle. 2021. PMID: 33407862 Free PMC article.

8

Canine junctional epidermolysis bullosa due to a novel mutation in LAMA3 with severe upper respiratory involvement.

Herrmann I, Linder KE, Meurs KM, Friedenberg SG, Cullen J, Olby N, Bizikova P. Herrmann I, et al. Among authors: friedenberg sg. Vet Dermatol. 2021 Aug;32(4):379-e108. doi: 10.1111/vde.12972. Vet Dermatol. 2021. PMID: 34250689 Free PMC article.

9

Congenital muscular dystrophy in a dog with a LAMA2 gene deletion.

Shelton GD, Minor KM, Thomovsky S, Guo LT, Friedenberg SG, Cullen JN, Mickelson JR. Shelton GD, et al. Among authors: friedenberg sg. J Vet Intern Med. 2022 Jan;36(1):279-284. doi: 10.1111/jvim.16330. Epub 2021 Dec 2. J Vet Intern Med. 2022. PMID: 34854126 Free PMC article.

10

Genome-Wide Analyses for Osteosarcoma in Leonberger Dogs Reveal the CDKN2A/B Gene Locus as a Major Risk Locus.

Letko A, Minor KM, Norton EM, Marinescu VD, Drögemüller M, Ivansson E, Megquier K, Noh HJ, Starkey M, Friedenberg SG, Lindblad-Toh K, Mickelson JR, Drögemüller C. Letko A, et al. Among authors: friedenberg sg. Genes (Basel). 2021 Dec 9;12(12):1964. doi: 10.3390/genes12121964. Genes (Basel). 2021. PMID: 34946912 Free PMC article.

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