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Items: 1 to 50 of 114

1.

Applying Educational Theory and Best Practices to Solve Common Challenges of Simulation-based Procedural Training in Emergency Medicine.

Cassara M, Schertzer K, Falk MJ, Wong AH, Hock SM, Bentley S, Paetow G, Conlon LW, Hughes PG, McKenna RT, Hrdy M, Lei C, Kulkarni M, Smith CM, Young A, Romo E, Smith MD, Hernandez J, Strother CG, Frallicciardi A, Nadir NA.

AEM Educ Train. 2019 Dec 27;4(Suppl 1):S22-S39. doi: 10.1002/aet2.10418. eCollection 2020 Feb.

PMID:
32072105
2.

Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration.

Stendel C, Neuhofer C, Floride E, Yuqing S, Ganetzky RD, Park J, Freisinger P, Kornblum C, Kleinle S, Schöls L, Distelmaier F, Stettner GM, Büchner B, Falk MJ, Mayr JA, Synofzik M, Abicht A, Haack TB, Prokisch H, Wortmann SB, Murayama K, Fang F, Klopstock T; ATP6 Study Group.

Neurol Genet. 2020 Jan 13;6(1):e393. doi: 10.1212/NXG.0000000000000393. eCollection 2020 Feb.

3.

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial.

Madsen KL, Buch AE, Cohen BH, Falk MJ, Goldsberry A, Goldstein A, Karaa A, Koenig MK, Muraresku CC, Meyer C, O'Grady M, Scaglia F, Shieh PB, Vockley J, Zolkipli-Cunningham Z, Haller RG, Vissing J.

Neurology. 2020 Feb 18;94(7):e687-e698. doi: 10.1212/WNL.0000000000008861. Epub 2020 Jan 2.

PMID:
31896620
4.

Collagen-Inspired Self-Assembly of Twisted Filaments.

Falk MJ, Duwel A, Colwell LJ, Brenner MP.

Phys Rev Lett. 2019 Dec 6;123(23):238102. doi: 10.1103/PhysRevLett.123.238102.

PMID:
31868483
5.

Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.

Gustafson MA, McCormick EM, Perera L, Longley MJ, Bai R, Kong J, Dulik M, Shen L, Goldstein AC, McCormack SE, Laskin BL, Leroy BP, Ortiz-Gonzalez XR, Ellington MG, Copeland WC, Falk MJ.

PLoS One. 2019 Sep 3;14(9):e0221829. doi: 10.1371/journal.pone.0221829. eCollection 2019.

6.

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalová D, Havlovicová M, Vlckova M, Sedláček Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM.

Am J Hum Genet. 2019 Aug 1;105(2):283-301. doi: 10.1016/j.ajhg.2019.06.016. Epub 2019 Jul 25.

7.

HIF-1α Stabilization Increases miR-210 Eliciting First Trimester Extravillous Trophoblast Mitochondrial Dysfunction.

Anton L, DeVine A, Polyak E, Olarerin-George A, Brown AG, Falk MJ, Elovitz MA.

Front Physiol. 2019 Jun 6;10:699. doi: 10.3389/fphys.2019.00699. eCollection 2019.

8.

What Parents Need to Know About Genetic Testing.

Falk MJ, Moreno MA.

JAMA Pediatr. 2019 Apr 1;173(4):404. doi: 10.1001/jamapediatrics.2019.0005. No abstract available.

PMID:
30801624
9.

MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.

Ganetzky RD, Stendel C, McCormick EM, Zolkipli-Cunningham Z, Goldstein AC, Klopstock T, Falk MJ.

Hum Mutat. 2019 May;40(5):499-515. doi: 10.1002/humu.23723. Epub 2019 Mar 4. Review.

PMID:
30763462
10.

Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies.

Triska P, Kaneva K, Merkurjev D, Sohail N, Falk MJ, Triche TJ Jr, Biegel JA, Gai X.

Cancer Res. 2019 Apr 1;79(7):1318-1330. doi: 10.1158/0008-5472.CAN-18-2220. Epub 2019 Feb 1.

11.

Mitochondrial DNA Deletion Syndromes.

Goldstein A, Falk MJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2003 Dec 17 [updated 2019 Jan 31].

12.

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

Parikh S, Karaa A, Goldstein A, Bertini ES, Chinnery PF, Christodoulou J, Cohen BH, Davis RL, Falk MJ, Fratter C, Horvath R, Koenig MK, Mancuso M, McCormack S, McCormick EM, McFarland R, Nesbitt V, Schiff M, Steele H, Stockler S, Sue C, Tarnopolsky M, Thorburn DR, Vockley J, Rahman S.

J Med Genet. 2019 Mar;56(3):123-130. doi: 10.1136/jmedgenet-2018-105800. Epub 2019 Jan 25.

PMID:
30683676
13.

Pre-clinical evaluation of cysteamine bitartrate as a therapeutic agent for mitochondrial respiratory chain disease.

Guha S, Konkwo C, Lavorato M, Mathew ND, Peng M, Ostrovsky J, Kwon YJ, Polyak E, Lightfoot R, Seiler C, Xiao R, Bennett M, Zhang Z, Nakamaru-Ogiso E, Falk MJ.

Hum Mol Genet. 2019 Jun 1;28(11):1837-1852. doi: 10.1093/hmg/ddz023.

PMID:
30668749
14.

Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies.

Muraresku CC, McCormick EM, Falk MJ.

Curr Genet Med Rep. 2018 Jun;6(2):62-72. doi: 10.1007/s40142-018-0138-9. Epub 2018 May 2.

15.

Mitochondrial Genomics: A complex field now coming of age.

McCormick EM, Muraresku CC, Falk MJ.

Curr Genet Med Rep. 2018 Jun;6(2):52-61. doi: 10.1007/s40142-018-0137-x. Epub 2018 May 2.

16.

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF; DDD Study,, Arboleda VA, Newbury-Ecob R.

Genet Med. 2019 Apr;21(4):850-860. doi: 10.1038/s41436-018-0259-2. Epub 2018 Sep 24.

17.

Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease.

McCormick EM, Zolkipli-Cunningham Z, Falk MJ.

Curr Opin Pediatr. 2018 Dec;30(6):714-724. doi: 10.1097/MOP.0000000000000686. Review.

18.

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.

Barca E, Ganetzky RD, Potluri P, Juanola-Falgarona M, Gai X, Li D, Jalas C, Hirsch Y, Emmanuele V, Tadesse S, Ziosi M, Akman HO, Chung WK, Tanji K, McCormick EM, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M, Falk MJ.

Hum Mol Genet. 2018 Oct 1;27(19):3305-3312. doi: 10.1093/hmg/ddy231.

19.

Mitochondrial disease patient motivations and barriers to participate in clinical trials.

Zolkipli-Cunningham Z, Xiao R, Stoddart A, McCormick EM, Holberts A, Burrill N, McCormack S, Williams L, Wang X, Thompson JLP, Falk MJ.

PLoS One. 2018 May 17;13(5):e0197513. doi: 10.1371/journal.pone.0197513. eCollection 2018.

20.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR.

Am J Hum Genet. 2018 Apr 5;102(4):713. doi: 10.1016/j.ajhg.2018.03.015. No abstract available.

21.

Endocrine Disorders in Primary Mitochondrial Disease.

Al-Gadi IS, Haas RH, Falk MJ, Goldstein A, McCormack SE.

J Endocr Soc. 2018 Feb 19;2(4):361-373. doi: 10.1210/js.2017-00434. eCollection 2018 Apr 1.

22.

Microvascular endothelial dysfunction in mitochondrial stroke-like episodes supports use of intravenous l-arginine.

Ganetzky RD, Falk MJ.

Mol Genet Metab Rep. 2018 Mar 9;15:74. doi: 10.1016/j.ymgmr.2018.03.001. eCollection 2018 Jun. No abstract available.

23.

MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.

Shen L, Attimonelli M, Bai R, Lott MT, Wallace DC, Falk MJ, Gai X.

Hum Mutat. 2018 Jun;39(6):806-810. doi: 10.1002/humu.23422. Epub 2018 Apr 6.

24.

N-acetylcysteine and vitamin E rescue animal longevity and cellular oxidative stress in pre-clinical models of mitochondrial complex I disease.

Polyak E, Ostrovsky J, Peng M, Dingley SD, Tsukikawa M, Kwon YJ, McCormack SE, Bennett M, Xiao R, Seiler C, Zhang Z, Falk MJ.

Mol Genet Metab. 2018 Apr;123(4):449-462. doi: 10.1016/j.ymgme.2018.02.013. Epub 2018 Feb 23.

25.

8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease.

Ganetzky RD, Falk MJ.

Mol Genet Metab. 2018 Mar;123(3):301-308. doi: 10.1016/j.ymgme.2018.01.010. Epub 2018 Feb 2.

26.

PARP-1 Inhibition Rescues Short Lifespan in Hyperglycemic C. Elegans And Improves GLP-1 Secretion in Human Cells.

Xia Q, Lu S, Ostrovsky J, McCormack SE, Falk MJ, Grant SFA.

Aging Dis. 2018 Feb 1;9(1):17-30. doi: 10.14336/AD.2017.0230. eCollection 2018 Feb.

27.

Response to Newman et al.

Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Josee Raboisson M, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Zolkipli Cunningham Z, Rahman S, Chinnery PF.

Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.164. Epub 2017 Oct 26. No abstract available.

PMID:
29215644
28.

Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism.

Chapman KA, Ostrovsky J, Rao M, Dingley SD, Polyak E, Yudkoff M, Xiao R, Bennett MJ, Falk MJ.

J Inherit Metab Dis. 2018 Mar;41(2):157-168. doi: 10.1007/s10545-017-0111-x. Epub 2017 Nov 20.

29.

Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems.

Kuszak AJ, Espey MG, Falk MJ, Holmbeck MA, Manfredi G, Shadel GS, Vernon HJ, Zolkipli-Cunningham Z.

Annu Rev Pathol. 2018 Jan 24;13:163-191. doi: 10.1146/annurev-pathol-020117-043644. Epub 2017 Nov 3. Review.

30.

High-throughput BioSorter quantification of relative mitochondrial content and membrane potential in living Caenorhabditis elegans.

Kwon YJ, Guha S, Tuluc F, Falk MJ.

Mitochondrion. 2018 May;40:42-50. doi: 10.1016/j.mito.2017.09.004. Epub 2017 Oct 3.

31.

Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.

Karaa A, Rahman S, Lombès A, Yu-Wai-Man P, Sheikh MK, Alai-Hansen S, Cohen BH, Dimmock D, Emrick L, Falk MJ, McCormack S, Mirsky D, Moore T, Parikh S, Shoffner J, Taivassalo T, Tarnopolsky M, Tein I, Odenkirchen JC, Goldstein A; Mito Working Group Member Participants.

J Inherit Metab Dis. 2018 Jan;41(1):151. doi: 10.1007/s10545-017-0081-z. No abstract available.

PMID:
28980269
32.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR.

Am J Hum Genet. 2017 Aug 3;101(2):239-254. doi: 10.1016/j.ajhg.2017.07.005. Erratum in: Am J Hum Genet. 2018 Apr 5;102(4):713.

33.

Clinical effects of chemical exposures on mitochondrial function.

Zolkipli-Cunningham Z, Falk MJ.

Toxicology. 2017 Nov 1;391:90-99. doi: 10.1016/j.tox.2017.07.009. Epub 2017 Jul 27. Review.

34.

Mitochondrial function requires NGLY1.

Kong J, Peng M, Ostrovsky J, Kwon YJ, Oretsky O, McCormick EM, He M, Argon Y, Falk MJ.

Mitochondrion. 2018 Jan;38:6-16. doi: 10.1016/j.mito.2017.07.008. Epub 2017 Jul 25.

35.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF.

Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.107. Epub 2017 Jul 27. Review.

PMID:
28749475
36.

Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish.

Byrnes J, Ganetzky R, Lightfoot R, Tzeng M, Nakamaru-Ogiso E, Seiler C, Falk MJ.

Neurochem Int. 2018 Jul;117:23-34. doi: 10.1016/j.neuint.2017.07.008. Epub 2017 Jul 18.

37.

Risk factors for poor bone health in primary mitochondrial disease.

Gandhi SS, Muraresku C, McCormick EM, Falk MJ, McCormack SE.

J Inherit Metab Dis. 2017 Sep;40(5):673-683. doi: 10.1007/s10545-017-0046-2. Epub 2017 Apr 27.

38.

Hospitalizations for mitochondrial disease across the lifespan in the U.S.

McCormack SE, Xiao R, Kilbaugh TJ, Karlsson M, Ganetzky RD, Cunningham ZZ, Goldstein A, Falk MJ, Damrauer SM.

Mol Genet Metab. 2017 Jun;121(2):119-126. doi: 10.1016/j.ymgme.2017.04.007. Epub 2017 Apr 19.

39.

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.

Karaa A, Rahman S, Lombès A, Yu-Wai-Man P, Sheikh MK, Alai-Hansen S, Cohen BH, Dimmock D, Emrick L, Falk MJ, McCormack S, Mirsky D, Moore T, Parikh S, Shoffner J, Taivassalo T, Tarnopolsky M, Tein I, Odenkirchen JC, Goldstein A; Mito Working Group Member Participants:.

J Inherit Metab Dis. 2017 May;40(3):403-414. doi: 10.1007/s10545-017-0035-5. Epub 2017 Mar 16. Erratum in: J Inherit Metab Dis. 2017 Oct 4;:.

PMID:
28303425
40.

Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders.

DeBrosse C, Nanga RPR, Wilson N, D'Aquilla K, Elliott M, Hariharan H, Yan F, Wade K, Nguyen S, Worsley D, Parris-Skeete C, McCormick E, Xiao R, Cunningham ZZ, Fishbein L, Nathanson KL, Lynch DR, Stallings VA, Yudkoff M, Falk MJ, Reddy R, McCormack SE.

JCI Insight. 2016 Nov 3;1(18):e88207. doi: 10.1172/jci.insight.88207.

41.

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.

Camp KM, Krotoski D, Parisi MA, Gwinn KA, Cohen BH, Cox CS, Enns GM, Falk MJ, Goldstein AC, Gopal-Srivastava R, Gorman GS, Hersh SP, Hirano M, Hoffman FA, Karaa A, MacLeod EL, McFarland R, Mohan C, Mulberg AE, Odenkirchen JC, Parikh S, Rutherford PJ, Suggs-Anderson SK, Tang WH, Vockley J, Wolfe LA, Yannicelli S, Yeske PE, Coates PM.

Mol Genet Metab. 2016 Nov;119(3):187-206. doi: 10.1016/j.ymgme.2016.09.002. Epub 2016 Sep 20. Review.

42.

Flunarizine rescues reduced lifespan in CLN3 triple knock-out Caenorhabditis elegans model of batten disease.

Kwon YJ, Falk MJ, Bennett MJ.

J Inherit Metab Dis. 2017 Mar;40(2):291-296. doi: 10.1007/s10545-016-9986-1. Epub 2016 Oct 20.

43.

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.

Li D, Yuan H, Ortiz-Gonzalez XR, Marsh ED, Tian L, McCormick EM, Kosobucki GJ, Chen W, Schulien AJ, Chiavacci R, Tankovic A, Naase C, Brueckner F, von Stülpnagel-Steinbeis C, Hu C, Kusumoto H, Hedrich UB, Elsen G, Hörtnagel K, Aizenman E, Lemke JR, Hakonarson H, Traynelis SF, Falk MJ.

Am J Hum Genet. 2016 Oct 6;99(4):802-816. doi: 10.1016/j.ajhg.2016.07.013. Epub 2016 Sep 8.

44.

Cohen Syndrome.

Wang H, Falk MJ, Wensel C, Traboulsi EI.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2006 Aug 29 [updated 2016 Jul 21].

45.

International Paediatric Mitochondrial Disease Scale.

Koene S, Hendriks JCM, Dirks I, de Boer L, de Vries MC, Janssen MCH, Smuts I, Fung CW, Wong VCN, de Coo IRFM, Vill K, Stendel C, Klopstock T, Falk MJ, McCormick EM, McFarland R, de Groot IJM, Smeitink JAM.

J Inherit Metab Dis. 2016 Sep;39(5):705-712. doi: 10.1007/s10545-016-9948-7. Epub 2016 Jun 9. Erratum in: J Inherit Metab Dis. 2017 May;40(3):463.

46.

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Madeo M, Stewart M, Sun Y, Sahir N, Wiethoff S, Chandrasekar I, Yarrow A, Rosenfeld JA, Yang Y, Cordeiro D, McCormick EM, Muraresku CC, Jepperson TN, McBeth LJ, Seidahmed MZ, El Khashab HY, Hamad M, Azzedine H, Clark K, Corrochano S, Wells S, Elting MW, Weiss MM, Burn S, Myers A, Landsverk M, Crotwell PL, Waisfisz Q, Wolf NI, Nolan PM, Padilla-Lopez S, Houlden H, Lifton R, Mane S, Singh BB, Falk MJ, Mercimek-Mahmutoglu S, Bilguvar K, Salih MA, Acevedo-Arozena A, Kruer MC.

Am J Hum Genet. 2016 Jun 2;98(6):1249-1255. doi: 10.1016/j.ajhg.2016.04.008. Epub 2016 May 26.

47.

From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases.

Falk MJ, Shen L, Gai X.

Cold Spring Harb Mol Case Stud. 2016 May;2(3):a001065. doi: 10.1101/mcs.a001065. No abstract available.

48.

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.

Li D, Bhoj E, McCormick E, Wang F, Snyder J, Wang T, Zhao Y, Kim C, Chiavacci R, Tian L, Falk MJ, Hakonarson H.

Case Rep Genet. 2016;2016:4140780. doi: 10.1155/2016/4140780. Epub 2016 Mar 16.

49.

Claudin 19-based familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a sibling pair.

Sharma S, Place E, Lord K, Leroy BP, Falk MJ, Pradhan M.

Clin Nephrol. 2016 Jun;85(6):346-52. doi: 10.5414/CN108783.

PMID:
27007868
50.

A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.

Falk MJ, Gai X, Shigematsu M, Vilardo E, Takase R, McCormick E, Christian T, Place E, Pierce EA, Consugar M, Gamper HB, Rossmanith W, Hou YM.

RNA Biol. 2016 May 3;13(5):477-85. doi: 10.1080/15476286.2016.1159381. Epub 2016 Mar 7.

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