Búsqueda | Biblioteca Virtual en Salud Odontología. Uruguay

1.

Low disease risk and penetrance in Leber hereditary optic neuropathy.

Watson, Eloise C; Davis, Ryan L; Ravishankar, Shyamsundar; Copty, Joseph; Kummerfeld, Sarah; Sue, Carolyn M.

Am J Hum Genet ; 110(1): 166-169, 2023 01 05.

Artículo en Inglés | MEDLINE | ID: mdl-36565700

2.

Next-Generation Sequencing and Emerging Technologies.

Kumar, Kishore R; Cowley, Mark J; Davis, Ryan L.

Semin Thromb Hemost ; 2024 May 01.

Artículo en Inglés | MEDLINE | ID: mdl-38692283

3.

Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.

Rudaks, Laura I; Watson, Eloise; Oboudiyat, Carly; Kumar, Kishore R; Sullivan, Patricia; Cowley, Mark J; Davis, Ryan L; Sue, Carolyn M.

Am J Med Genet A ; 188(7): 2226-2230, 2022 07.

Artículo en Inglés | MEDLINE | ID: mdl-35393742

4.

Diagnosis of 'possible' mitochondrial disease: an existential crisis.

Parikh, Sumit; Karaa, Amel; Goldstein, Amy; Bertini, Enrico Silvio; Chinnery, Patrick F; Christodoulou, John; Cohen, Bruce H; Davis, Ryan L; Falk, Marni J; Fratter, Carl; Horvath, Rita; Koenig, Mary Kay; Mancuso, Michaelangelo; McCormack, Shana; McCormick, Elizabeth M; McFarland, Robert; Nesbitt, Victoria; Schiff, Manuel; Steele, Hannah; Stockler, Silvia; Sue, Carolyn; Tarnopolsky, Mark; Thorburn, David R; Vockley, Jerry; Rahman, Shamima.

J Med Genet ; 56(3): 123-130, 2019 03.

Artículo en Inglés | MEDLINE | ID: mdl-30683676

5.

Next-Generation Sequencing and Emerging Technologies.

Kumar, Kishore R; Cowley, Mark J; Davis, Ryan L.

Semin Thromb Hemost ; 45(7): 661-673, 2019 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-31096307

6.

The Next, Next-Generation of Sequencing, Promising to Boost Research and Clinical Practice.

Kumar, Kishore R; Cowley, Mark J; Davis, Ryan L.

Semin Thromb Hemost ; 2024 May 11.

Artículo en Inglés | MEDLINE | ID: mdl-38733978

7.

High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia.

Kang, Ce; Liang, Christina; Ahmad, Kate E; Gu, Yufan; Siow, Sue-Faye; Colebatch, James G; Whyte, Scott; Ng, Karl; Cremer, Philip D; Corbett, Alastair J; Davis, Ryan L; Roscioli, Tony; Cowley, Mark J; Park, Jin-Sung; Sue, Carolyn M; Kumar, Kishore R.

Cerebellum ; 18(1): 137-146, 2019 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-30078120

8.

Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.

Kim, Aryun; Kumar, Kishore R; Davis, Ryan L; Mallawaarachchi, Amali C; Gayevskiy, Velimir; Minoche, Andre E; Walls, Zachary; Kim, Han-Joon; Jang, Mihee; Cowley, Mark J; Choi, Ji-Hyun; Shin, Chaewon; Sue, Carolyn M; Jeon, Beomseok.

Cerebellum ; 18(4): 781-790, 2019 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-31104286

9.

Mitochondrial Dysfunction in Parkinson's Disease: New Mechanistic Insights and Therapeutic Perspectives.

Park, Jin-Sung; Davis, Ryan L; Sue, Carolyn M.

Curr Neurol Neurosci Rep ; 18(5): 21, 2018 04 03.

Artículo en Inglés | MEDLINE | ID: mdl-29616350

10.

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.

Menezes, Minal J; Guo, Yiran; Zhang, Jianguo; Riley, Lisa G; Cooper, Sandra T; Thorburn, David R; Li, Jiankang; Dong, Daoyuan; Li, Zhijun; Glessner, Joseph; Davis, Ryan L; Sue, Carolyn M; Alexander, Stephen I; Arbuckle, Susan; Kirwan, Paul; Keating, Brendan J; Xu, Xun; Hakonarson, Hakon; Christodoulou, John.

Hum Mol Genet ; 24(8): 2297-307, 2015 Apr 15.

Artículo en Inglés | MEDLINE | ID: mdl-25556185

11.

Genetic Testing of Movements Disorders: A Review of Clinical Utility.

Yeow, Dennis; Rudaks, Laura I; Siow, Sue-Faye; Davis, Ryan L; Kumar, Kishore R.

Tremor Other Hyperkinet Mov (N Y) ; 14: 2, 2024.

Artículo en Inglés | MEDLINE | ID: mdl-38222898

12.

Genome sequencing reanalysis increases the diagnostic yield in dystonia.

Fellner, Avi; Wali, Gurusidheshwar M; Mahant, Neil; Grosz, Bianca R; Ellis, Melina; Narayanan, Ramesh K; Ng, Karl; Davis, Ryan L; Tchan, Michel C; Kotschet, Katya; Yeow, Dennis; Rudaks, Laura I; Siow, Sue-Faye; Wali, Gautam; Yiannikas, Con; Hobbs, Matthew; Copty, Joseph; Geaghan, Michael; Darveniza, Paul; Liang, Christina; Williams, Laura J; Chang, Florence C F; Morales-Briceño, Hugo; Tisch, Stephen; Hayes, Michael; Whyte, Scott; Kummerfeld, Sarah; Kennerson, Marina L; Cowley, Mark J; Fung, Victor S C; Sue, Carolyn M; Kumar, Kishore R.

Parkinsonism Relat Disord ; 124: 107010, 2024 May 14.

Artículo en Inglés | MEDLINE | ID: mdl-38772265

13.

NEMoE: a nutrition aware regularized mixture of experts model to identify heterogeneous diet-microbiome-host health interactions.

Xu, Xiangnan; Lubomski, Michal; Holmes, Andrew J; Sue, Carolyn M; Davis, Ryan L; Muller, Samuel; Yang, Jean Y H.

Microbiome ; 11(1): 51, 2023 03 15.

Artículo en Inglés | MEDLINE | ID: mdl-36918961

14.

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.

Sullivan, Patricia J; Gayevskiy, Velimir; Davis, Ryan L; Wong, Marie; Mayoh, Chelsea; Mallawaarachchi, Amali; Hort, Yvonne; McCabe, Mark J; Beecroft, Sarah; Jackson, Matilda R; Arts, Peer; Dubowsky, Andrew; Laing, Nigel; Dinger, Marcel E; Scott, Hamish S; Oates, Emily; Pinese, Mark; Cowley, Mark J.

Genome Biol ; 24(1): 118, 2023 05 17.

Artículo en Inglés | MEDLINE | ID: mdl-37198692

15.

Nutritional Intake and Gut Microbiome Composition Predict Parkinson's Disease.

Lubomski, Michal; Xu, Xiangnan; Holmes, Andrew J; Muller, Samuel; Yang, Jean Y H; Davis, Ryan L; Sue, Carolyn M.

Front Aging Neurosci ; 14: 881872, 2022.

Artículo en Inglés | MEDLINE | ID: mdl-35645785

16.

The Gut Microbiome in Parkinson's Disease: A Longitudinal Study of the Impacts on Disease Progression and the Use of Device-Assisted Therapies.

Lubomski, Michal; Xu, Xiangnan; Holmes, Andrew J; Muller, Samuel; Yang, Jean Y H; Davis, Ryan L; Sue, Carolyn M.

Front Aging Neurosci ; 14: 875261, 2022.

Artículo en Inglés | MEDLINE | ID: mdl-35656540

17.

The impact of device-assisted therapies on the gut microbiome in Parkinson's disease.

Lubomski, Michal; Xu, Xiangnan; Holmes, Andrew J; Yang, Jean Y H; Sue, Carolyn M; Davis, Ryan L.

J Neurol ; 269(2): 780-795, 2022 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-34128115

18.

Strong Predictive Algorithm of Pathogenesis-Based Biomarkers Improves Parkinson's Disease Diagnosis.

Chan, Daniel Kam Yin; Braidy, Nady; Chen, Ren Fen; Xu, Ying Hua; Bentley, Steven; Lubomski, Michal; Davis, Ryan L; Chen, Jack; Sue, Carolyn M; Mellick, George D.

Mol Neurobiol ; 59(3): 1476-1485, 2022 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-34993845

19.

Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis.

Davis, Ryan L; Kumar, Kishore R; Puttick, Clare; Liang, Christina; Ahmad, Kate E; Edema-Hildebrand, Fabienne; Park, Jin-Sung; Minoche, Andre E; Gayevskiy, Velimir; Mallawaarachchi, Amali C; Christodoulou, John; Schofield, Deborah; Dinger, Marcel E; Cowley, Mark J; Sue, Carolyn M.

Neurology ; 99(7): e730-e742, 2022 08 16.

Artículo en Inglés | MEDLINE | ID: mdl-35641312

20.

The genetics of mitochondrial disease.

Davis, Ryan L; Sue, Carolyn M.

Semin Neurol ; 31(5): 519-30, 2011 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-22266889

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Low disease risk and penetrance in Leber hereditary optic neuropathy.

Next-Generation Sequencing and Emerging Technologies.

Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.

Diagnosis of 'possible' mitochondrial disease: an existential crisis.

Next-Generation Sequencing and Emerging Technologies.

The Next, Next-Generation of Sequencing, Promising to Boost Research and Clinical Practice.

High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia.

Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.

Mitochondrial Dysfunction in Parkinson's Disease: New Mechanistic Insights and Therapeutic Perspectives.

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.

Genetic Testing of Movements Disorders: A Review of Clinical Utility.

Genome sequencing reanalysis increases the diagnostic yield in dystonia.

NEMoE: a nutrition aware regularized mixture of experts model to identify heterogeneous diet-microbiome-host health interactions.

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.

Nutritional Intake and Gut Microbiome Composition Predict Parkinson's Disease.

The Gut Microbiome in Parkinson's Disease: A Longitudinal Study of the Impacts on Disease Progression and the Use of Device-Assisted Therapies.

The impact of device-assisted therapies on the gut microbiome in Parkinson's disease.

Strong Predictive Algorithm of Pathogenesis-Based Biomarkers Improves Parkinson's Disease Diagnosis.

Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis.

The genetics of mitochondrial disease.