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Items: 1 to 50 of 344

1.

Elucidating the Role of ApoE Isoforms in Spinal Cord Injury-Associated Neuropathology.

Toro CA, Das DK, Cai D, Cardozo C.

J Neurotrauma. 2019 Jun 20. doi: 10.1089/neu.2018.6334. [Epub ahead of print]

PMID:
31218915
2.

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Nicoli ER, Weston MR, Hackbarth M, Becerril A, Larson A, Zein WM, Baker PR 2nd, Burke JD, Dorward H, Davids M, Huang Y, Adams DR, Zerfas PM, Chen D, Markello TC, Toro C, Wood T, Elliott G, Vu M; Undiagnosed Diseases Network, Zheng W, Garrett LJ, Tifft CJ, Gahl WA, Day-Salvatore DL, Mindell JA, Malicdan MCV.

Am J Hum Genet. 2019 Jun 6;104(6):1127-1138. doi: 10.1016/j.ajhg.2019.04.008. Epub 2019 May 30.

PMID:
31155284
3.

Sex differences in Alzheimer's disease: Understanding the molecular impact.

Toro CA, Zhang L, Cao J, Cai D.

Brain Res. 2019 Sep 15;1719:194-207. doi: 10.1016/j.brainres.2019.05.031. Epub 2019 May 23. Review.

PMID:
31129153
4.

The neuropsychological phenotype of Chediak-Higashi disease.

Shirazi TN, Snow J, Ham L, Raglan GB, Wiggs EA, Summers AC, Toro C, Introne WJ.

Orphanet J Rare Dis. 2019 May 6;14(1):101. doi: 10.1186/s13023-019-1049-x.

5.

Treatment Strategies for Deficiency of Adenosine Deaminase 2.

Ombrello AK, Qin J, Hoffmann PM, Kumar P, Stone D, Jones A, Romeo T, Barham B, Pinto-Patarroyo G, Toro C, Soldatos A, Zhou Q, Deuitch N, Aksentijevich I, Sheldon SL, Kelly S, Man A, Barron K, Hershfield M, Flegel WA, Kastner DL.

N Engl J Med. 2019 Apr 18;380(16):1582-1584. doi: 10.1056/NEJMc1801927. No abstract available.

PMID:
30995379
6.

Corrigendum to "Efficacy of different strategies to treat root dentin eroded by liquid or gaseous hydrochloric acid associated with brushing abrasion" [Arch. Oral Biol. Vol. 89 (2018), Pages 65-69].

Faraoni JJ, Toro CVT, de Matos LLM, Palma-Dibb RG.

Arch Oral Biol. 2019 Jun;102:47. doi: 10.1016/j.archoralbio.2019.03.019. Epub 2019 Apr 6. No abstract available.

PMID:
30959279
7.

Serum IgM Glycosylation Associated with Tuberculosis Infection in Mice.

Kumagai T, Palacios A, Casadevall A, García MJ, Toro C, Tiemeyer M, Prados-Rosales R.

mSphere. 2019 Mar 27;4(2). pii: e00684-18. doi: 10.1128/mSphere.00684-18.

8.

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation.

Tulli S, Del Bondio A, Baderna V, Mazza D, Codazzi F, Pierson TM, Ambrosi A, Nolte D, Goizet C, Toro C, Baets J, Deconinck T, DeJonghe P, Mandich P, Casari G, Maltecca F.

J Med Genet. 2019 Mar 25. pii: jmedgenet-2018-105766. doi: 10.1136/jmedgenet-2018-105766. [Epub ahead of print]

9.

Endo-lysosomal pathway and ubiquitin-proteasome system dysfunction in Alzheimer's disease pathogenesis.

Cao J, Zhong MB, Toro CA, Zhang L, Cai D.

Neurosci Lett. 2019 Jun 11;703:68-78. doi: 10.1016/j.neulet.2019.03.016. Epub 2019 Mar 16. Review.

PMID:
30890471
10.

Emerging molecular mechanisms of vascular dementia.

Romay MC, Toro C, Iruela-Arispe ML.

Curr Opin Hematol. 2019 May;26(3):199-206. doi: 10.1097/MOH.0000000000000502.

PMID:
30883434
11.

Emerging Genetic and Epigenetic Mechanisms Underlying Pubertal Maturation in Adolescence.

Aylwin CF, Toro CA, Shirtcliff E, Lomniczi A.

J Res Adolesc. 2019 Mar;29(1):54-79. doi: 10.1111/jora.12385.

PMID:
30869843
12.

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy.

Nmezi B, Giorgio E, Raininko R, Lehman A, Spielmann M, Koenig MK, Adejumo R, Knight M, Gavrilova R, Alturkustani M, Sharma M, Hammond R, Gahl WA, Toro C, Brusco A, Padiath QS.

Neurol Genet. 2019 Jan 24;5(1):e305. doi: 10.1212/NXG.0000000000000305. eCollection 2019 Feb.

13.

PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells.

Mashimo M, Bu X, Aoyama K, Kato J, Ishiwata-Endo H, Stevens LA, Kasamatsu A, Wolfe LA, Toro C, Adams D, Markello T, Gahl WA, Moss J.

JCI Insight. 2019 Feb 21;4(4). pii: 124519. doi: 10.1172/jci.insight.124519. eCollection 2019 Feb 21.

14.

The effect of CO rotation from shaped pulse polarization on reactions that form C2.

Ogden HM, Michael TJ, Murray MJ, Liu Q, Toro C, Mullin AS.

Phys Chem Chem Phys. 2019 Jul 3;21(26):14103-14110. doi: 10.1039/c8cp06917d.

PMID:
30734788
15.

A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.

Gu F, Wu A, Gordon MG, Vlahos L, Macnamara S, Burke E, Malicdan MC, Adams DR, Tifft CJ, Toro C, Gahl WA, Markello TC.

Genet Med. 2019 Jan 31. doi: 10.1038/s41436-019-0434-0. [Epub ahead of print]

PMID:
30700791
16.

Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy.

Otero MG, Tiongson E, Diaz F, Haude K, Panzer K, Collier A, Kim J, Adams D, Tifft CJ, Cui H, Millian Zamora F, Au MG, Graham JM Jr, Buckley DJ, Lewis R, Toro C, Bai R, Turner L, Mathews KD, Gahl W, Pierson TM.

Ann Clin Transl Neurol. 2018 Nov 9;6(1):154-160. doi: 10.1002/acn3.661. eCollection 2019 Jan.

17.

Does infection of cerebellar Purkinje neurons with human herpes virus 6A or 6B (HHV-6) increase the risk of developing mood disorders?

Toro CT, Eliassen E, Prusty BK.

Future Microbiol. 2019 Jan;14:85-88. doi: 10.2217/fmb-2018-0307. Epub 2019 Jan 15. No abstract available.

PMID:
30644310
18.

"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia.

Pascual B, de Bot ST, Daniels MR, França MC Jr, Toro C, Riverol M, Hedera P, Bassi MT, Bresolin N, van de Warrenburg BP, Kremer B, Nicolai J, Charles P, Xu J, Singh S, Patronas NJ, Fung SH, Gregory MD, Masdeu JC.

AJNR Am J Neuroradiol. 2019 Jan;40(1):199-203. doi: 10.3174/ajnr.A5935. Epub 2019 Jan 3.

PMID:
30606727
19.

Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy.

Mohassel P, Landon-Cardinal O, Foley AR, Donkervoort S, Pak KS, Wahl C, Shebert RT, Harper A, Fequiere P, Meriggioli M, Toro C, Drachman D, Allenbach Y, Benveniste O, Béhin A, Eymard B, Lafôret P, Stojkovic T, Mammen AL, Bönnemann CG.

Neurol Neuroimmunol Neuroinflamm. 2018 Dec 12;6(1):e523. doi: 10.1212/NXI.0000000000000523. eCollection 2019 Jan.

20.

Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.

Chin JJ, Behnam B, Davids M, Sharma P, Zein WM, Wang C, Chepa-Lotrea X, Gallantine WB, Toro C, Adams DR, Tifft CJ, Gahl WA, Malicdan MCV.

Mol Genet Metab. 2019 Feb;126(2):188-195. doi: 10.1016/j.ymgme.2018.12.001. Epub 2018 Dec 3.

PMID:
30528883
21.

Glycomics in rare diseases: from diagnosis tomechanism.

Davids M, Kane MS, Wolfe LA, Toro C, Tifft CJ, Adams D, Li X, Raihan MA, He M, Gahl WA, Boerkoel CF, Malicdan MCV.

Transl Res. 2019 Apr;206:5-17. doi: 10.1016/j.trsl.2018.10.005. Epub 2018 Oct 23.

PMID:
30423312
22.

SIRT1 mediates obesity- and nutrient-dependent perturbation of pubertal timing by epigenetically controlling Kiss1 expression.

Vazquez MJ, Toro CA, Castellano JM, Ruiz-Pino F, Roa J, Beiroa D, Heras V, Velasco I, Dieguez C, Pinilla L, Gaytan F, Nogueiras R, Bosch MA, Rønnekleiv OK, Lomniczi A, Ojeda SR, Tena-Sempere M.

Nat Commun. 2018 Oct 10;9(1):4194. doi: 10.1038/s41467-018-06459-9.

23.

Active HHV-6 Infection of Cerebellar Purkinje Cells in Mood Disorders.

Prusty BK, Gulve N, Govind S, Krueger GRF, Feichtinger J, Larcombe L, Aspinall R, Ablashi DV, Toro CT.

Front Microbiol. 2018 Aug 21;9:1955. doi: 10.3389/fmicb.2018.01955. eCollection 2018.

24.

Chediak-Higashi Syndrome.

Toro C, Nicoli ER, Malicdan MC, Adams DR, Introne WJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2009 Mar 3 [updated 2018 Jul 5].

25.

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.

Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, Bernstein JA, Hale CL, Silver J, Hudgins L, Ananth A, Hanson-Kahn A, Shuster S; Undiagnosed Diseases Network, Magoulas PL, Patel VN, Zhu W, Chen SM, Jiang Y, Liu P, Eng CM, Batkovskyte D, di Ronza A, Sardiello M, Lee BH, Schaaf CP, Yang Y, Wang X.

Am J Hum Genet. 2018 Jul 5;103(1):154-162. doi: 10.1016/j.ajhg.2018.06.005. Epub 2018 Jun 28.

26.

Flash Smelting Copper Concentrates Spectral Emission Measurements.

Arias L, Torres S, Toro C, Balladares E, Parra R, Loeza C, Villagrán C, Coelho P.

Sensors (Basel). 2018 Jun 22;18(7). pii: E2009. doi: 10.3390/s18072009.

27.

Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F.

Shanbhag NM, Geschwind MD, DiGiovanna JJ, Groden C, Godfrey R, Yousefzadeh MJ, Wade EA, Niedernhofer LJ, Malicdan MCV, Kraemer KH, Gahl WA, Toro C.

Neurol Genet. 2018 Jun 8;4(3):e240. doi: 10.1212/NXG.0000000000000240. eCollection 2018 Jun.

28.

Supervoxels-Based Histon as a New Alzheimer's Disease Imaging Biomarker.

Toro CAO, Gonzalo Martín C, García-Pedrero A, Menasalvas Ruiz E.

Sensors (Basel). 2018 May 29;18(6). pii: E1752. doi: 10.3390/s18061752.

29.

Elucidating the genetic architecture of reproductive ageing in the Japanese population.

Horikoshi M, Day FR, Akiyama M, Hirata M, Kamatani Y, Matsuda K, Ishigaki K, Kanai M, Wright H, Toro CA, Ojeda SR, Lomniczi A, Kubo M, Ong KK, Perry JRB.

Nat Commun. 2018 May 17;9(1):1977. doi: 10.1038/s41467-018-04398-z.

30.

Hypothalamic epigenetics driving female puberty.

Toro CA, Aylwin CF, Lomniczi A.

J Neuroendocrinol. 2018 Jul;30(7):e12589. doi: 10.1111/jne.12589. Review.

31.

A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C; C4RCD Research Group, LeDoux MS.

Hum Mol Genet. 2018 Apr 1;27(7):1310. doi: 10.1093/hmg/ddy049. No abstract available.

32.

Trithorax dependent changes in chromatin landscape at enhancer and promoter regions drive female puberty.

Toro CA, Wright H, Aylwin CF, Ojeda SR, Lomniczi A.

Nat Commun. 2018 Jan 4;9(1):57. doi: 10.1038/s41467-017-02512-1.

33.

A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C; C4RCD Research Group, LeDoux MS.

Hum Mol Genet. 2018 Feb 15;27(4):691-705. doi: 10.1093/hmg/ddx435. Erratum in: Hum Mol Genet. 2018 Apr 1;27(7):1310.

34.

Cover Image, Volume 173A, Number 12, December 2017.

Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira CR, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara EF, Gunay-Aygun M, Zein WM, Gahl WA, Malicdan MCV.

Am J Med Genet A. 2017 Dec;173(12):i. doi: 10.1002/ajmg.a.38548.

PMID:
29136352
35.

Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism.

Burke EA, Frucht SJ, Thompson K, Wolfe LA, Yokoyama T, Bertoni M, Huang Y, Sincan M, Adams DR, Taylor RW, Gahl WA, Toro C, Malicdan MCV.

Clin Genet. 2018 Mar;93(3):712-718. doi: 10.1111/cge.13172. Epub 2018 Feb 5.

36.

Changes in the expression of genes involved in the ovarian function of rats caused by daily exposure to 3-methylcholanthrene and their prevention by α-naphthoflavone.

Rhon-Calderón EA, Toro CA, Lomniczi A, Galarza RA, Faletti AG.

Arch Toxicol. 2018 Feb;92(2):907-919. doi: 10.1007/s00204-017-2096-5. Epub 2017 Nov 1.

37.

Cell-Specific RNA Binding Protein Rbfox2 Regulates CaV2.2 mRNA Exon Composition and CaV2.2 Current Size.

Allen SE, Toro CP, Andrade A, López-Soto EJ, Denome S, Lipscombe D.

eNeuro. 2017 Oct 10;4(5). pii: ENEURO.0332-16.2017. doi: 10.1523/ENEURO.0332-16.2017. eCollection 2017 Sep-Oct.

38.

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.

Manole A, Jaunmuktane Z, Hargreaves I, Ludtmann MHR, Salpietro V, Bello OD, Pope S, Pandraud A, Horga A, Scalco RS, Li A, Ashokkumar B, Lourenço CM, Heales S, Horvath R, Chinnery PF, Toro C, Singleton AB, Jacques TS, Abramov AY, Muntoni F, Hanna MG, Reilly MM, Revesz T, Kullmann DM, Jepson JEC, Houlden H.

Brain. 2017 Nov 1;140(11):2820-2837. doi: 10.1093/brain/awx231.

39.

Defective ciliogenesis in INPP5E-related Joubert syndrome.

Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira CR, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara EF, Gunay-Aygun M, Zein WM, Gahl WA, Malicdan MCV.

Am J Med Genet A. 2017 Dec;173(12):3231-3237. doi: 10.1002/ajmg.a.38376. Epub 2017 Oct 20.

40.

A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.

Malicdan MCV, Vilboux T, Ben-Zeev B, Guo J, Eliyahu A, Pode-Shakked B, Dori A, Kakani S, Chandrasekharappa SC, Ferreira CR, Shelestovich N, Marek-Yagel D, Pri-Chen H, Blatt I, Niederhuber JE, He L, Toro C, Taylor RW, Deeken J, Yardeni T, Wallace DC, Gahl WA, Anikster Y.

Hum Mutat. 2018 Jan;39(1):69-79. doi: 10.1002/humu.23345. Epub 2017 Nov 8.

41.

A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity.

Purcell RH, Toro C, Gahl WA, Hall RA.

Hum Mutat. 2017 Dec;38(12):1751-1760. doi: 10.1002/humu.23336. Epub 2017 Sep 20.

42.

Time-Frequency Analysis of Mu Rhythm Activity during Picture and Video Action Naming Tasks.

Cuellar ME, Del Toro CM.

Brain Sci. 2017 Sep 6;7(9). pii: E114. doi: 10.3390/brainsci7090114.

43.

Use of Lymph Node Ultrasound Prior to Sentinel Lymph Node Biopsy in 384 Patients with Melanoma: A Cost-Effectiveness Analysis.

Olmedo D, Brotons-Seguí M, Del Toro C, González M, Requena C, Traves V, Pla A, Bolumar I, Moreno-Ramírez D, Nagore E.

Actas Dermosifiliogr. 2017 Dec;108(10):931-938. doi: 10.1016/j.ad.2017.06.002. Epub 2017 Aug 8. English, Spanish.

PMID:
28801012
44.

Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?

Svingen L, Goheen M, Godfrey R, Wahl C, Baker EH, Gahl WA, Malicdan MCV, Toro C.

Dev Med Child Neurol. 2017 Dec;59(12):1307-1311. doi: 10.1111/dmcn.13509. Epub 2017 Aug 1.

45.

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

Armangue T, Orsini JJ, Takanohashi A, Gavazzi F, Conant A, Ulrick N, Morrissey MA, Nahhas N, Helman G, Gordish-Dressman H, Orcesi S, Tonduti D, Stutterd C, van Haren K, Toro C, Iglesias AD, van der Knaap MS, Goldbach Mansky R, Moser AB, Jones RO, Vanderver A.

Mol Genet Metab. 2017 Nov;122(3):134-139. doi: 10.1016/j.ymgme.2017.07.006. Epub 2017 Jul 20.

46.

Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.

Oprescu SN, Chepa-Lotrea X, Takase R, Golas G, Markello TC, Adams DR, Toro C, Gropman AL, Hou YM, Malicdan MCV, Gahl WA, Tifft CJ, Antonellis A.

Hum Mutat. 2017 Oct;38(10):1412-1420. doi: 10.1002/humu.23287. Epub 2017 Jul 14.

47.

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.

Gall T, Valkanas E, Bello C, Markello T, Adams C, Bone WP, Brandt AJ, Brazill JM, Carmichael L, Davids M, Davis J, Diaz-Perez Z, Draper D, Elson J, Flynn ED, Godfrey R, Groden C, Hsieh CK, Fischer R, Golas GA, Guzman J, Huang Y, Kane MS, Lee E, Li C, Links AE, Maduro V, Malicdan MCV, Malik FS, Nehrebecky M, Park J, Pemberton P, Schaffer K, Simeonov D, Sincan M, Smedley D, Valivullah Z, Wahl C, Washington N, Wolfe LA, Xu K, Zhu Y, Gahl WA, Tifft CJ, Toro C, Adams DR, He M, Robinson PN, Haendel MA, Zhai RG, Boerkoel CF.

Front Med (Lausanne). 2017 May 26;4:62. doi: 10.3389/fmed.2017.00062. eCollection 2017.

48.

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Meyer E, Carss KJ, Rankin J, Nichols JME, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJH, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969b. No abstract available.

PMID:
28546572
49.

Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.

Summers AC, Snow J, Wiggs E, Liu AG, Toro C, Poretti A, Zein WM, Brooks BP, Parisi MA, Inati S, Doherty D, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program, Vilboux T, Gahl WA, Gunay-Aygun M.

Am J Med Genet A. 2017 Jul;173(7):1796-1812. doi: 10.1002/ajmg.a.38272. Epub 2017 May 12.

50.

Correction: ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.

Zhang Y, Huang H, Zhao G, Yokoyama T, Vega H, Huang Y, Sood R, Bishop K, Maduro V, Accardi J, Toro C, Boerkoel CF, Lyons K, Gahl WA, Duan X, Malicdan MC, Lin S.

PLoS Genet. 2017 Feb 27;13(2):e1006624. doi: 10.1371/journal.pgen.1006624. eCollection 2017 Feb.

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