Publications:

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Genetic Links to Episodic Movement Disorders: Current Insights.

The Application Of Clinical Genetics

Garg, Divyani D; Mohammad, Shekeeb S; Shukla, Anju A; Sharma, Suvasini S

Publication Date: 2023

Variant appearance in text: ECHS1: 518C>T; Ala173Val

PubMed Link: 36883047

Variant Present in the following documents:

• Main text
• tacg-16-11.pdf

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Loss of mitochondrial fatty acid β-oxidation protein short-chain Enoyl-CoA hydratase disrupts oxidative phosphorylation protein complex stability and function.

The Febs Journal

Burgin, Harrison H; Sharpe, Alice J AJ; Nie, Shuai S; Ziemann, Mark M; Crameri, Jordan J JJ; Stojanovski, Diana D; Pitt, James J; Ohtake, Akira A; Murayama, Kei K; McKenzie, Matthew M

Publication Date: 2022-08-13

Variant appearance in text: ECHS1: Ala173Val

PubMed Link: 35962613

Variant Present in the following documents:

• Main text
• FEBS-290-225.pdf

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Development of iPSC-based clinical trial selection platform for patients with ultrarare diseases.

Science Advances

Sequiera, Glen Lester GL; Srivastava, Abhay A; Sareen, Niketa N; Yan, Weiang W; Alagarsamy, Keshav Narayan KN; Verma, Elika E; Aghanoori, Mohamad Reza MR; Aliani, Michel M; Kumar, Ashok A; Fernyhough, Paul P; Rockman-Greenberg, Cheryl C; Dhingra, Sanjiv S

Publication Date: 2022-04-08

Variant appearance in text: ECHS1: 518C>T; Ala173Val

PubMed Link: 35394834

Variant Present in the following documents:

• Main text
• sciadv.abl4370.pdf

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Pathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH) Deficiency-Case Report and Literature Review.

International Journal Of Environmental Research And Public Health

Muntean, Carmen C; Tripon, Florin F; Bogliș, Alina A; Bănescu, Claudia C

Publication Date: 2022-02-13

Variant appearance in text: ECHS1: 518C>T

PubMed Link: 35206276

Variant Present in the following documents:

• Main text
• ijerph-19-02088.pdf

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: ECHS1: A173V; rs150321966

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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Development of a Mitochondrial Myopathy-Composite Assessment Tool.

Jcsm Clinical Reports

Flickinger, Jean J; Fan, Jiaxin J; Wellik, Amanda A; Ganetzky, Rebecca R; Goldstein, Amy A; Muraresku, Colleen C CC; Glanzman, Allan M AM; Ballance, Elizabeth E; Leonhardt, Kristin K; McCormick, Elizabeth M EM; Soreth, Brianna B; Nguyen, Sara S; Gornish, Jennifer J; George-Sankoh, Ibrahim I; Peterson, James J; MacMullen, Laura E LE; Vishnubhatt, Shailee S; McBride, Michael M; Haas, Richard R; Falk, Marni J MJ; Xiao, Rui R; Zolkipli-Cunningham, Zarazuela Z

Publication Date: 2021-10

Variant appearance in text: ECHS1: Ala173Val

PubMed Link: 35071983

Variant Present in the following documents:

• NIHMS1767033-supplement-Supplementary_Tables.pdf

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Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.

Annals Of Neurology

Lim, Albert Z AZ; Ng, Yi Shiau YS; Blain, Alasdair A; Jiminez-Moreno, Cecilia C; Alston, Charlotte L CL; Nesbitt, Victoria V; Simmons, Louise L; Santra, Saikat S; Wassmer, Evangeline E; Blakely, Emma L EL; Turnbull, Doug M DM; Taylor, Robert W RW; Gorman, Gráinne S GS; McFarland, Robert R

Publication Date: 2022-01

Variant appearance in text: ECHS1: 518C>T; Ala173Val

PubMed Link: 34716721

Variant Present in the following documents:

• Main text
• ANA-91-117.pdf

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Pediatric Paroxysmal Exercise-Induced Neurological Symptoms: Clinical Spectrum and Diagnostic Algorithm.

Frontiers In Neurology

Danti, Federica Rachele FR; Invernizzi, Federica F; Moroni, Isabella I; Garavaglia, Barbara B; Nardocci, Nardo N; Zorzi, Giovanna G

Publication Date: 2021

Variant appearance in text: ECHS1: 518C>T; A173V

PubMed Link: 34140924

Variant Present in the following documents:

• Main text
• fneur-12-658178.pdf

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Exploring triheptanoin as treatment for short chain enoyl CoA hydratase deficiency.

Annals Of Clinical And Translational Neurology

Engelstad, Kristin K; Salazar, Rachel R; Koenigsberger, Dorcas D; Stackowtiz, Erin E; Brodlie, Susan S; Brandabur, Melanie M; De Vivo, Darryl C DC

Publication Date: 2021-05

Variant appearance in text: ECHS1: Ala173Val

PubMed Link: 33931985

Variant Present in the following documents:

• Main text

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Paroxysmal Exercise-Induced Dyskinesia in Siblings due to ECHS1 Gene Mutation - First Indian Case Report.

Annals Of Indian Academy Of Neurology

Senthilkumar, Vajramanickam V; Sivaraj, Kiruthika K

Publication Date: 2020

Variant appearance in text: ECHS1: Ala173Val

PubMed Link: 33688149

Variant Present in the following documents:

• AIAN-23-837.pdf

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: ECHS1: 518C>T; A173V

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

View BVdb publication page

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Clinical, biochemical and metabolic characterization of patients with short-chain enoyl-CoA hydratase(ECHS1) deficiency: two case reports and the review of the literature.

Bmc Pediatrics

Yang, Hua H; Yu, Dan D

Publication Date: 2020-02-03

Variant appearance in text: ECHS1: Ala173Val

PubMed Link: 32013919

Variant Present in the following documents:

• Main text
• 12887_2020_Article_1947.pdf

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Clinical genome sequencing in an unbiased pediatric cohort.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Thiffault, Isabelle I; Farrow, Emily E; Zellmer, Lee L; Berrios, Courtney C; Miller, Neil N; Gibson, Margaret M; Caylor, Raymond R; Jenkins, Janda J; Faller, Deb D; Soden, Sarah S; Saunders, Carol C

Publication Date: 2019-02

Variant appearance in text: ECHS1: 518C>T; A173V

PubMed Link: 30008475

Variant Present in the following documents:

• Main text
• 41436_2018_Article_75.pdf

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Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.

Jimd Reports

Carlston, Colleen M CM; Ferdinandusse, Sacha S; Hobert, Judith A JA; Mao, Rong R; Longo, Nicola N

Publication Date: 2019

Variant appearance in text: ECHS1: Ala173Val

PubMed Link: 29923089

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mitochondrial Fatty Acid Oxidation Disorders Associated with Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.

Cells

Sharpe, Alice J AJ; McKenzie, Matthew M

Publication Date: 2018-05-23

Variant appearance in text: ECHS1: 518C>T; Ala173Val

PubMed Link: 29882869

Variant Present in the following documents:

• Main text
• cells-07-00046.pdf

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