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Items: 1 to 50 of 89

1.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA.

Am J Hum Genet. 2019 Jun 6;104(6):1251. doi: 10.1016/j.ajhg.2019.05.009. No abstract available.

2.

Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain.

Arias M, Mir P, Fernández-Matarrubia M, Arpa J, García-Ramos R, Blanco-Arias P, Quintans B, Sobrido MJ.

Neurologia. 2019 May 15. pii: S0213-4853(19)30050-7. doi: 10.1016/j.nrl.2019.01.004. [Epub ahead of print] English, Spanish.

3.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA.

Am J Hum Genet. 2019 Apr 4;104(4):767-773. doi: 10.1016/j.ajhg.2019.03.001. Epub 2019 Mar 28. Erratum in: Am J Hum Genet. 2019 Jun 6;104(6):1251.

4.

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

Sobrido MJ, Bauer P, de Koning T, Klopstock T, Nadjar Y, Patterson MC, Synofzik M, Hendriksz CJ.

Orphanet J Rare Dis. 2019 Jan 21;14(1):20. doi: 10.1186/s13023-018-0985-1. Review.

5.

A note on rotigotine for restless legs syndrome after renal transplantation.

Calviño J, Guijarro M, Cigarran S, González-Tabares L, Sobrido MJ.

Mov Disord. 2019 Jan;34(1):151-152. doi: 10.1002/mds.27574. No abstract available.

PMID:
30653728
6.

Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations.

Lupo V, Frasquet M, Sánchez-Monteagudo A, Pelayo-Negro AL, García-Sobrino T, Sedano MJ, Pardo J, Misiego M, García-García J, Sobrido MJ, Martínez-Rubio MD, Chumillas MJ, Vílchez JJ, Vázquez-Costa JF, Espinós C, Sevilla T.

J Med Genet. 2018 Dec;55(12):814-823. doi: 10.1136/jmedgenet-2018-105650. Epub 2018 Nov 10.

PMID:
30415211
7.

Restless Legs Syndrome: An Unresolved Uremic Disorder after Renal Transplantation.

Calviño J, Cigarrán S, Gonzalez-Tabares L, Guijarro M, Millán B, Cobelo C, Cillero S, Sobrido MJ.

Nephron. 2018;139(1):23-29. doi: 10.1159/000486401. Epub 2018 Feb 1.

PMID:
29393274
8.

Primary familial brain calcifications.

Quintáns B, Oliveira J, Sobrido MJ.

Handb Clin Neurol. 2018;147:307-317. doi: 10.1016/B978-0-444-63233-3.00020-8. Review.

PMID:
29325620
9.

An ontology-aware integration of clinical models, terminologies and guidelines: an exploratory study of the Scale for the Assessment and Rating of Ataxia (SARA).

Maarouf H, Taboada M, Rodriguez H, Arias M, Sesar Á, Sobrido MJ.

BMC Med Inform Decis Mak. 2017 Dec 6;17(1):159. doi: 10.1186/s12911-017-0568-4.

10.

Primary Familial Brain Calcification.

Ramos EM, Oliveira J, Sobrido MJ, Coppola G.

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.
2004 Apr 18 [updated 2017 Aug 24].

11.

Brain calcifications and PCDH12 variants.

Nicolas G, Sanchez-Contreras M, Ramos EM, Lemos RR, Ferreira J, Moura D, Sobrido MJ, Richard AC, Lopez AR, Legati A, Deleuze JF, Boland A, Quenez O, Krystkowiak P, Favrole P, Geschwind DH, Aran A, Segel R, Levy-Lahad E, Dickson DW, Coppola G, Rademakers R, de Oliveira JRM.

Neurol Genet. 2017 Jul 26;3(4):e166. doi: 10.1212/NXG.0000000000000166. eCollection 2017 Aug.

12.

Prevalence of spinocerebellar ataxia 36 in a US population.

Valera JM, Diaz T, Petty LE, Quintáns B, Yáñez Z, Boerwinkle E, Muzny D, Akhmedov D, Berdeaux R, Sobrido MJ, Gibbs R, Lupski JR, Geschwind DH, Perlman S, Below JE, Fogel BL.

Neurol Genet. 2017 Jul 18;3(4):e174. doi: 10.1212/NXG.0000000000000174. eCollection 2017 Aug.

13.

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.

Seixas AI, Loureiro JR, Costa C, Ordóñez-Ugalde A, Marcelino H, Oliveira CL, Loureiro JL, Dhingra A, Brandão E, Cruz VT, Timóteo A, Quintáns B, Rouleau GA, Rizzu P, Carracedo Á, Bessa J, Heutink P, Sequeiros J, Sobrido MJ, Coutinho P, Silveira I.

Am J Hum Genet. 2017 Jul 6;101(1):87-103. doi: 10.1016/j.ajhg.2017.06.007.

14.

PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.

Ozes B, Karagoz N, Schüle R, Rebelo A, Sobrido MJ, Harmuth F, Synofzik M, Pascual SIP, Colak M, Ciftci-Kavaklioglu B, Kara B, Ordóñez-Ugalde A, Quintáns B, Gonzalez MA, Soysal A, Zuchner S, Battaloglu E.

Clin Genet. 2017 Nov;92(5):534-539. doi: 10.1111/cge.13008. Epub 2017 Apr 19.

15.

Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants.

Cacheiro P, Ordóñez-Ugalde A, Quintáns B, Piñeiro-Hermida S, Amigo J, García-Murias M, Pascual-Pascual SI, Grandas F, Arpa J, Carracedo A, Sobrido MJ.

Mol Diagn Ther. 2017 Jun;21(3):303-313. doi: 10.1007/s40291-017-0268-x.

PMID:
28290094
16.

Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease.

García-Sobrino T, Blanco-Arias P, Palau F, Espinós C, Ramirez L, Estela A, San Millán B, Arias M, Sobrido MJ, Pardo J.

Neuromuscul Disord. 2017 Jul;27(7):667-672. doi: 10.1016/j.nmd.2017.01.008. Epub 2017 Jan 17.

PMID:
28236508
17.

Are Functional Assays for Pathogenicity Assessment of Genetic Variants Overrated?

Sobrido MJ.

Hum Mutat. 2017 Jan;38(1):5. doi: 10.1002/humu.23143. No abstract available.

PMID:
27943540
18.

PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36.

Aguiar P, Pardo J, Arias M, Quintáns B, Fernández-Prieto M, Martínez-Regueiro R, Pumar JM, Silva-Rodríguez J, Ruibal Á, Sobrido MJ, Cortés J.

Mov Disord. 2017 Feb;32(2):264-273. doi: 10.1002/mds.26854. Epub 2016 Nov 10.

PMID:
27862279
19.

Variations in the Genome: The Mutation Detection 2015 Meeting on Detection, Genome Sequencing, and Interpretation.

Torres-Español M, Anvar SY, Sobrido MJ.

Hum Mutat. 2016 Oct;37(10):1106-9. doi: 10.1002/humu.23022. Epub 2016 Aug 23.

PMID:
27363592
20.

Synaptotagmin XI in Parkinson's disease: New evidence from an association study in Spain and Mexico.

Sesar A, Cacheiro P, López-López M, Camiña-Tato M, Quintáns B, Monroy-Jaramillo N, Alonso-Vilatela ME, Cebrián E, Yescas-Gómez P, Ares B, Rivas MT, Castro A, Carracedo A, Sobrido MJ.

J Neurol Sci. 2016 Mar 15;362:321-5. doi: 10.1016/j.jns.2016.02.014. Epub 2016 Feb 8.

PMID:
26944171
21.

Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11.

Castro-Fernández C, Arias M, Blanco-Arias P, Santomé-Collazo L, Amigo J, Carracedo Á, Sobrido MJ.

Appl Transl Genom. 2015 Jun 26;5:33-6. doi: 10.1016/j.atg.2015.05.005. eCollection 2015 Jun 1.

22.

Applied and translational neurogenomics.

Sobrido MJ, Mohamed WM.

Appl Transl Genom. 2015 Jun 23;5:1-2. doi: 10.1016/j.atg.2015.06.003. eCollection 2015 Jun 1. No abstract available.

23.

Automated semantic annotation of rare disease cases: a case study.

Taboada M, Rodríguez H, Martínez D, Pardo M, Sobrido MJ.

Database (Oxford). 2015 Nov 13;2015. pii: bav107. doi: 10.1093/database/bav107. Print 2015. No abstract available.

24.

Transfer of genetic therapy across human populations: molecular targets for increasing patient coverage in repeat expansion diseases.

Varela MA, Curtis HJ, Douglas AG, Hammond SM, O'Loughlin AJ, Sobrido MJ, Scholefield J, Wood MJ.

Eur J Hum Genet. 2016 Feb;24(2):271-6. doi: 10.1038/ejhg.2015.94. Epub 2015 May 20.

25.

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.

Legati A, Giovannini D, Nicolas G, López-Sánchez U, Quintáns B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo Á, Castro-Fernández C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK, Vanakker O, Wessels MW, Wetchaphanphesat S, Yang M, Boller F, Campion D, Hannequin D, Sitbon M, Geschwind DH, Battini JL, Coppola G.

Nat Genet. 2015 Jun;47(6):579-81. doi: 10.1038/ng.3289. Epub 2015 May 4.

26.

Spinocerebellar ataxia 36 (SCA36): «Costa da Morte ataxia».

Arias M, García-Murias M, Sobrido MJ.

Neurologia. 2017 Jul - Aug;32(6):386-393. doi: 10.1016/j.nrl.2014.11.005. Epub 2015 Jan 13. Review. English, Spanish.

27.

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1.

Bettencourt C, de Yébenes JG, López-Sendón JL, Shomroni O, Zhang X, Qian SB, Bakker IM, Heetveld S, Ros R, Quintáns B, Sobrido MJ, Bevova MR, Jain S, Bugiani M, Heutink P, Rizzu P.

Cerebellum. 2015 Jun;14(3):378-81. doi: 10.1007/s12311-014-0643-7. No abstract available.

PMID:
25592071
28.

No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population.

Fachal L, Mosquera-Miguel A, Pastor P, Ortega-Cubero S, Lorenzo E, Oterino-Durán A, Toriello M, Quintáns B, Camiña-Tato M, Sesar A, Vega A, Sobrido MJ, Salas A.

Am J Med Genet B Neuropsychiatr Genet. 2015 Jan;168B(1):54-65. doi: 10.1002/ajmg.b.32276. Epub 2014 Oct 28.

PMID:
25349034
29.

Restless legs syndrome in non-dialysis renal patients: is it really that common?

Calviño J, Cigarrán S, Lopez LM, Martinez A, Sobrido MJ.

J Clin Sleep Med. 2015 Jan 15;11(1):57-60. doi: 10.5664/jcsm.4366.

30.

Medical genomics: The intricate path from genetic variant identification to clinical interpretation.

Quintáns B, Ordóñez-Ugalde A, Cacheiro P, Carracedo A, Sobrido MJ.

Appl Transl Genom. 2014 Jun 16;3(3):60-7. doi: 10.1016/j.atg.2014.06.001. eCollection 2014 Sep 1. Review.

31.

Spinocerebellar Ataxia Type 36.

Arias M, Quintáns B, García-Murias M, Sobrido 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; 1993-2019.
2014 Aug 7.

32.

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, Park SS, Karbassi ID, Batish SD, Ordóñez-Ugalde A, Quintáns B, Sobrido MJ, Stemmler S, Lupski JR.

Am J Hum Genet. 2014 Aug 7;95(2):143-61. doi: 10.1016/j.ajhg.2014.06.014. Epub 2014 Jul 24.

33.

Automated semantic annotation of rare disease cases: a case study.

Taboada M, Rodríguez H, Martínez D, Pardo M, Sobrido MJ.

Database (Oxford). 2014 Jun 4;2014. pii: bau045. doi: 10.1093/database/bau045. Print 2014. Erratum in: Database (Oxford). 2015;2015. pii: bav107. doi: 10.1093/database/bav107.

34.

[Disease due to lysosomal deposits with differential peculiarities: type II GM1 gangliosidosis].

Amado-Puentes A, Blanco-Barca Ó, Coll MJ, Sobrido MJ.

Rev Neurol. 2014 Apr 16;58(8):382-3. Spanish.

35.

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies.

Carreño O, Corominas R, Serra SA, Sintas C, Fernández-Castillo N, Vila-Pueyo M, Toma C, Gené GG, Pons R, Llaneza M, Sobrido MJ, Grinberg D, Valverde MÁ, Fernández-Fernández JM, Macaya A, Cormand B.

Mol Genet Genomic Med. 2013 Nov;1(4):206-22. doi: 10.1002/mgg3.24. Epub 2013 Jul 2.

36.

Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease.

Toustrup-Jensen MS, Einholm AP, Schack VR, Nielsen HN, Holm R, Sobrido MJ, Andersen JP, Clausen T, Vilsen B.

J Biol Chem. 2014 Feb 7;289(6):3186-97. doi: 10.1074/jbc.M113.543272. Epub 2013 Dec 19.

37.

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.

Keller A, Westenberger A, Sobrido MJ, García-Murias M, Domingo A, Sears RL, Lemos RR, Ordoñez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobričić V, Carracedo A, Petrović I, Miyasaki JM, Abakumova I, Mäe MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Janković M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novaković I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostić VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR.

Nat Genet. 2013 Sep;45(9):1077-82. doi: 10.1038/ng.2723. Epub 2013 Aug 4.

PMID:
23913003
38.

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.

Bettencourt C, López-Sendón JL, García-Caldentey J, Rizzu P, Bakker IM, Shomroni O, Quintáns B, Dávila JR, Bevova MR, Sobrido MJ, Heutink P, de Yébenes JG.

Clin Genet. 2014 Feb;85(2):154-8. doi: 10.1111/cge.12133. Epub 2013 Mar 25.

PMID:
23438842
39.

SNOMED CT module-driven clinical archetype management.

Allones JL, Taboada M, Martinez D, Lozano R, Sobrido MJ.

J Biomed Inform. 2013 Jun;46(3):388-400. doi: 10.1016/j.jbi.2013.01.003. Epub 2013 Feb 9.

40.

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.

Hsu SC, Sears RL, Lemos RR, Quintáns B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, Carmona O, Dobricić V, Fogel BL, García-Estevez D, Goldman J, Goudreau JL, Hopfer S, Janković M, Jaumà S, Jen JC, Kirdlarp S, Klepper J, Kostić V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novaković I, Paucar M, Paulson H, Simpson SA, Svenningsson P, Tuite P, Vitek J, Wetchaphanphesat S, Williams C, Yang M, Schofield PR, de Oliveira JR, Sobrido MJ, Geschwind DH, Coppola G.

Neurogenetics. 2013 Feb;14(1):11-22. doi: 10.1007/s10048-012-0349-2. Epub 2013 Jan 20.

41.

Axonal neuropathy, long limbs and bumpy tongue: think of MEN2B.

Ramos-Leví AM, Díaz-Pérez A, Sobrido MJ, Piñeiro-Hermida S, Blanco-Arias P, Cabezas-Agrícola JM, Pascual-Pascual SI, Araújo-Vilar D.

Muscle Nerve. 2012 Dec;46(6):961-4. doi: 10.1002/mus.23466.

PMID:
23225389
42.

Membranous nephropathy, leiomyoma and autoimmune myasthenia: more than a coincidence?

Calviño J, Adeva M, Sobrido MJ.

Clin Kidney J. 2012 Dec;5(6):562-5. doi: 10.1093/ckj/sfs144. Epub 2012 Nov 7.

43.

Summarizing phenotype evolution patterns from report cases.

Taboada M, Alvarez V, Martínez D, Pilo B, Robinson PN, Sobrido MJ.

J Med Syst. 2012 Nov;36 Suppl 1:S25-36. doi: 10.1007/s10916-012-9887-2. Epub 2012 Oct 20.

PMID:
23085966
44.

Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.

García-Redondo A, Dols-Icardo O, Rojas-García R, Esteban-Pérez J, Cordero-Vázquez P, Muñoz-Blanco JL, Catalina I, González-Muñoz M, Varona L, Sarasola E, Povedano M, Sevilla T, Guerrero A, Pardo J, López de Munain A, Márquez-Infante C, de Rivera FJ, Pastor P, Jericó I, de Arcaya AÁ, Mora JS, Clarimón J; C9ORF72 Spanish Study Group, Gonzalo-Martínez JF, Juárez-Rufián A, Atencia G, Jiménez-Bautista R, Morán Y, Mascías J, Hernández-Barral M, Kapetanovic S, García-Barcina M, Alcalá C, Vela A, Ramírez-Ramos C, Galán L, Pérez-Tur J, Quintáns B, Sobrido MJ, Fernández-Torrón R, Poza JJ, Gorostidi A, Paradas C, Villoslada P, Larrodé P, Capablo JL, Pascual-Calvet J, Goñi M, Morgado Y, Guitart M, Moreno-Laguna S, Rueda A, Martín-Estefanía C, Cemillán C, Blesa R, Lleó A.

Hum Mutat. 2013 Jan;34(1):79-82. doi: 10.1002/humu.22211. Epub 2012 Oct 11.

PMID:
22936364
45.

A replication study of a GWAS finding in migraine does not identify association in a Spanish case-control sample.

Sintas C, Carreño O, Fernández-Morales J, Cacheiro P, Sobrido MJ, Narberhaus B, Pozo-Rosich P, Macaya A, Cormand B.

Cephalalgia. 2012 Oct;32(14):1076-80. doi: 10.1177/0333102412457090. Epub 2012 Aug 20.

PMID:
22908361
46.

Databases for neurogenetics: introduction, overview, and challenges.

Sobrido MJ, Cacheiro P, Carracedo A, Bertram L.

Hum Mutat. 2012 Sep;33(9):1311-4. doi: 10.1002/humu.22164.

PMID:
22890789
47.

Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis.

Taboada M, Martínez D, Pilo B, Jiménez-Escrig A, Robinson PN, Sobrido MJ.

BMC Med Inform Decis Mak. 2012 Jul 31;12:78. doi: 10.1186/1472-6947-12-78.

48.

Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.

Bettencourt C, Quintáns B, Ros R, Ampuero I, Yáñez Z, Pascual SI, de Yébenes JG, Sobrido MJ.

Hum Mutat. 2012 Sep;33(9):1315-23. doi: 10.1002/humu.22148. Epub 2012 Jul 16. Review.

PMID:
22753388
49.

Human Variome Project country nodes: documenting genetic information within a country.

Patrinos GP, Smith TD, Howard H, Al-Mulla F, Chouchane L, Hadjisavvas A, Hamed SA, Li XT, Marafie M, Ramesar RS, Ramos FJ, de Ravel T, El-Ruby MO, Shrestha TR, Sobrido MJ, Tadmouri G, Witsch-Baumgartner M, Zilfalil BA, Auerbach AD, Carpenter K, Cutting GR, Dung VC, Grody W, Hasler J, Jorde L, Kaput J, Macek M, Matsubara Y, Padilla C, Robinson H, Rojas-Martinez A, Taylor GR, Vihinen M, Weber T, Burn J, Qi M, Cotton RG, Rimoin D; International Confederation of Countries Advisory Council.

Hum Mutat. 2012 Nov;33(11):1513-9. doi: 10.1002/humu.22147. Epub 2012 Jul 18.

PMID:
22753370
50.

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.

Wan J, Yourshaw M, Mamsa H, Rudnik-Schöneborn S, Menezes MP, Hong JE, Leong DW, Senderek J, Salman MS, Chitayat D, Seeman P, von Moers A, Graul-Neumann L, Kornberg AJ, Castro-Gago M, Sobrido MJ, Sanefuji M, Shieh PB, Salamon N, Kim RC, Vinters HV, Chen Z, Zerres K, Ryan MM, Nelson SF, Jen JC.

Nat Genet. 2012 Apr 29;44(6):704-8. doi: 10.1038/ng.2254.

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