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Similar articles for PubMed (Select 22569581)

1.

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.

Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, Rizza T, Sartori G, Meschini MC, Nesti C, Tozzi G, Petruzzella V, Piemonte F, Bisceglia L, Bruno C, Dionisi-Vici C, D'Amico A, Fattori F, Carrozzo R, Salviati L, Santorelli FM, Bertini E.

J Inherit Metab Dis. 2013 Jan;36(1):43-53. doi: 10.1007/s10545-012-9487-9. Epub 2012 May 8.

PMID:
22569581
2.

WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease.

Vodopiutz J, Seidl R, Prayer D, Khan MI, Mayr JA, Streubel B, Steiß JO, Hahn A, Csaicsich D, Castro C, Assoum M, Müller T, Wieczorek D, Mancini GM, Sadowski CE, Levy N, Mégarbané A, Godbole K, Schanze D, Hildebrandt F, Delague V, Janecke AR, Zenker M.

Hum Mutat. 2015 Jun 29. doi: 10.1002/humu.22828. [Epub ahead of print]

PMID:
26123727
3.

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.

Anttonen AK, Hilander T, Linnankivi T, Isohanni P, French RL, Liu Y, Simonović M, Söll D, Somer M, Muth-Pawlak D, Corthals GL, Laari A, Ylikallio E, Lähde M, Valanne L, Lönnqvist T, Pihko H, Paetau A, Lehesjoki AE, Suomalainen A, Tyynismaa H.

Neurology. 2015 Jun 26. pii: 10.1212/WNL.0000000000001787. [Epub ahead of print]

PMID:
26115735
4.

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.

Lax NZ, Alston CL, Schon K, Park SM, Krishnakumar D, He L, Falkous G, Ogilvy-Stuart A, Lees C, King RH, Hargreaves IP, Brown GK, McFarland R, Dean AF, Taylor RW.

J Neuropathol Exp Neurol. 2015 Jul;74(7):688-703. doi: 10.1097/NEN.0000000000000209.

PMID:
26083569
5.

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, Smith JD, Tran L, Al Turki S, Chioza BA, Cross H, Harlalka GV, Hurles ME, Maroofian R, Heaps AD, Morton MC, Stempak L, Hildebrandt F, Sadowski CE, Zaritsky J, Campellone K, Morton DH, Wang H, Crosby A, Strauss KA.

Brain. 2015 Jun 11. pii: awv153. [Epub ahead of print]

6.

Clinical and Neuroimaging Features in Two Children with Mutations in the Mitochondrial ND5 Gene.

Sonam K, Bindu PS, Taly AB, Govindaraju C, Gayathri N, Arvinda HR, Nagappa M, Sinha S, Khan NA, Govindaraj P, Thangaraj K.

Neuropediatrics. 2015 May 14. [Epub ahead of print]

PMID:
25974876
7.

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

Ahting U, Mayr JA, Vanlander AV, Hardy SA, Santra S, Makowski C, Alston CL, Zimmermann FA, Abela L, Plecko B, Rohrbach M, Spranger S, Seneca S, Rolinski B, Hagendorff A, Hempel M, Sperl W, Meitinger T, Smet J, Taylor RW, Van Coster R, Freisinger P, Prokisch H, Haack TB.

Front Genet. 2015 Apr 13;6:123. doi: 10.3389/fgene.2015.00123. eCollection 2015.

8.

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.

Huemer M, Karall D, Schossig A, Abdenur JE, Al Jasmi F, Biagosch C, Distelmaier F, Freisinger P, Graham BH, Haack TB, Hauser N, Hertecant J, Ebrahimi-Fakhari D, Konstantopoulou V, Leydiker K, Lourenco CM, Scholl-Bürgi S, Wilichowski E, Wolf NI, Wortmann SB, Taylor RW, Mayr JA, Bonnen PE, Sperl W, Prokisch H, McFarland R.

J Inherit Metab Dis. 2015 Apr 14. [Epub ahead of print]

PMID:
25868664
9.

Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.

Biancheri R, Lamantea E, Severino M, Diodato D, Pedemonte M, Cassandrini D, Ploederl A, Trucco F, Fiorillo C, Minetti C, Santorelli FM, Zeviani M, Bruno C.

JIMD Rep. 2015;23:85-9. doi: 10.1007/8904_2015_434. Epub 2015 Apr 9.

10.

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.

Brito S, Thompson K, Campistol J, Colomer J, Hardy SA, He L, Fernández-Marmiesse A, Palacios L, Jou C, Jiménez-Mallebrera C, Armstrong J, Montero R, Artuch R, Tischner C, Wenz T, McFarland R, Taylor RW.

Front Genet. 2015 Mar 23;6:102. doi: 10.3389/fgene.2015.00102. eCollection 2015.

11.

Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.

Vernon HJ, McClellan R, Batista DA, Naidu S.

Am J Med Genet A. 2015 May;167A(5):1147-51. doi: 10.1002/ajmg.a.36993. Epub 2015 Apr 6.

PMID:
25851414
12.

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.

Li Z, Schonberg R, Guidugli L, Johnson AK, Arnovitz S, Yang S, Scafidi J, Summar ML, Vezina G, Das S, Chapman K, Del Gaudio D.

J Hum Genet. 2015 Mar 26. doi: 10.1038/jhg.2015.31. [Epub ahead of print]

PMID:
25809939
13.

Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.

Abdel-Salam GM, Abdel-Hamid MS, El-Khayat HA, Eid OM, Saba S, Farag MK, Saleem SN, Gaber KR.

Am J Med Genet A. 2015 May;167A(5):1089-99. doi: 10.1002/ajmg.a.37010. Epub 2015 Mar 10.

PMID:
25755095
14.

The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

Sasarman F, Thiffault I, Weraarpachai W, Salomon S, Maftei C, Gauthier J, Ellazam B, Webb N, Antonicka H, Janer A, Brunel-Guitton C, Elpeleg O, Mitchell G, Shoubridge EA.

Hum Mol Genet. 2015 May 15;24(10):2841-7. doi: 10.1093/hmg/ddv044. Epub 2015 Feb 4.

PMID:
25652405
15.

SPTAN1 encephalopathy: distinct phenotypes and genotypes.

Tohyama J, Nakashima M, Nabatame S, Gaik-Siew C, Miyata R, Rener-Primec Z, Kato M, Matsumoto N, Saitsu H.

J Hum Genet. 2015 Apr;60(4):167-73. doi: 10.1038/jhg.2015.5. Epub 2015 Jan 29. Review.

PMID:
25631096
16.

Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness.

Hu H, Matter ML, Issa-Jahns L, Jijiwa M, Kraemer N, Musante L, de la Vega M, Ninnemann O, Schindler D, Damatova N, Eirich K, Sifringer M, Schrötter S, Eickholt BJ, van den Heuvel L, Casamina C, Stoltenburg-Didinger G, Ropers HH, Wienker TF, Hübner C, Kaindl AM.

Ann Clin Transl Neurol. 2014 Dec;1(12):1024-35. doi: 10.1002/acn3.149. Epub 2014 Dec 3.

17.

Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.

Kodera H, Osaka H, Iai M, Aida N, Yamashita A, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H, Matsumoto N.

J Hum Genet. 2015 Feb;60(2):97-101. doi: 10.1038/jhg.2014.103. Epub 2014 Dec 4.

PMID:
25471517
18.

Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities.

Salvarinova R, Ye CX, Rossi A, Biancheri R, Roland EH, Pavlidis P, Ross CJ, Tarailo-Graovac M, Wasserman WW, van Karnebeek CD.

Neurogenetics. 2015 Apr;16(2):145-9. doi: 10.1007/s10048-014-0432-y. Epub 2014 Nov 30.

PMID:
25432320
19.

Neuropathologic features of pontocerebellar hypoplasia type 6.

Joseph JT, Innes AM, Smith AC, Vanstone MR, Schwartzentruber JA, Bulman DE, Majewski J, Daza RA, Hevner RF, Michaud J, Boycott KM; FORGE Canada Consortium.

J Neuropathol Exp Neurol. 2014 Nov;73(11):1009-25. doi: 10.1097/NEN.0000000000000123.

PMID:
25289895
20.

Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.

Horst DM, Ruess L, Rusin JA, Bartholomew DW.

Pediatr Neurol. 2014 Nov;51(5):734-6. doi: 10.1016/j.pediatrneurol.2014.06.015. Epub 2014 Jun 26.

PMID:
25286830
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