1 - 25 of 85 results for author:"Strom T.M." in Literature citations
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| Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Kornblum C., Nicholls T.J., Haack T.B., Scholer S., Peeva V., Danhauser K., Hallmann K., Zsurka G., Rorbach J., Iuso A. et al. Nat. Genet. 45:214-219(2013) · UniProtKB (1) |
| Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Haack T.B., Hogarth P., Kruer M.C., Gregory A., Wieland T., Schwarzmayr T., Graf E., Sanford L., Meyer E., Kara E. et al. Am. J. Hum. Genet. 91:1144-1149(2012) · Mapped (3) |
| DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. Danhauser K., Sauer S.W., Haack T.B., Wieland T., Staufner C., Graf E., Zschocke J., Strom T.M., Traub T., Okun J.G. et al. Am. J. Hum. Genet. 91:1082-1087(2012) · Mapped (1) |
| Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. Giehl K.A., Eckstein G.N., Pasternack S.M., Praetzel-Wunder S., Ruzicka T., Lichtner P., Seidl K., Rogers M., Graf E., Langbein L. et al. Am. J. Hum. Genet. 91:754-759(2012) · UniProtKB (1) |
| Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Beetz C., Pieber T.R., Hertel N., Schabhuttl M., Fischer C., Trajanoski S., Graf E., Keiner S., Kurth I., Wieland T. et al. Am. J. Hum. Genet. 91:139-145(2012) · UniProtKB (1) · Mapped (4) |
| Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. Ghezzi D., Baruffini E., Haack T.B., Invernizzi F., Melchionda L., Dallabona C., Strom T.M., Parini R., Burlina A.B., Meitinger T. et al. Am. J. Hum. Genet. 90:1079-1087(2012) · UniProtKB (2) · Mapped (2) |
| New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis. Sabrautzki S., Rubio-Aliaga I., Hans W., Fuchs H., Rathkolb B., Calzada-Wack J., Cohrs C.M., Klaften M., Seedorf H., Eck S. et al. Mamm. Genome 23:416-430(2012) · Mapped (19) |
| Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Steenweg M.E., Ghezzi D., Haack T., Abbink T.E., Martinelli D., van Berkel C.G., Bley A., Diogo L., Grillo E., Te Water Naude J. et al. Brain 135:1387-1394(2012) · Mapped (4) |
| Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 gene. Ostern R., Fagerheim T., Orstavik K., Holmoy T., Heiberg A., Lund-Petersen I., Strom T.M., Nilssen O., Dahl A. Neuromuscul. Disord. 22:511-521(2012) · Mapped (2) |
| Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. Winkelmann J., Lin L., Schormair B., Kornum B.R., Faraco J., Plazzi G., Melberg A., Cornelio F., Urban A.E., Pizza F. et al. Hum. Mol. Genet. 21:2205-2210(2012) · Mapped (4) |
| Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Mayr J.A., Haack T.B., Graf E., Zimmermann F.A., Wieland T., Haberberger B., Superti-Furga A., Kirschner J., Steinmann B., Baumgartner M.R. et al. Am. J. Hum. Genet. 90:314-320(2012) · UniProtKB (1) · Mapped (4) |
| KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism. Mulatero P., Tauber P., Zennaro M.C., Monticone S., Lang K., Beuschlein F., Fischer E., Tizzani D., Pallauf A., Viola A. et al. |
| Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping. Siemiatkowska A.M., Arimadyo K., Moruz L.M., Astuti G.D., de Castro-Miro M., Zonneveld M.N., Strom T.M., de Wijs I.J., Hoefsloot L.H., Faradz S.M. et al. Mol. Vis. 17:3013-3024(2011) · UniProtKB (1) |
| Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa. Azam M., Collin R.W., Malik A., Khan M.I., Shah S.T., Shah A.A., Hussain A., Sadeque A., Arimadyo K., Ajmal M. et al. Arch. Ophthalmol. 129:1377-1378(2011) · UniProtKB (1) |
| Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Hartig M.B., Iuso A., Haack T., Kmiec T., Jurkiewicz E., Heim K., Roeber S., Tarabin V., Dusi S., Krajewska-Walasek M. et al. Am. J. Hum. Genet. 89:543-550(2011) · UniProtKB (1) |
| A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Zimprich A., Benet-Pages A., Struhal W., Graf E., Eck S.H., Offman M.N., Haubenberger D., Spielberger S., Schulte E.C., Lichtner P. et al. Am. J. Hum. Genet. 89:168-175(2011) · UniProtKB (1) · Mapped (2) |
| Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Abou Jamra R., Philippe O., Raas-Rothschild A., Eck S.H., Graf E., Buchert R., Borck G., Ekici A., Brockschmidt F.F., Nothen M.M. et al. Am. J. Hum. Genet. 88:788-795(2011) · UniProtKB (2) |
| Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Senderek J., Muller J.S., Dusl M., Strom T.M., Guergueltcheva V., Diepolder I., Laval S.H., Maxwell S., Cossins J., Krause S. et al. Am. J. Hum. Genet. 88:162-172(2011) · UniProtKB (1) · Mapped (3) |
| Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. Guelly C., Zhu P.P., Leonardis L., Papic L., Zidar J., Schabhuttl M., Strohmaier H., Weis J., Strom T.M., Baets J. et al. Am. J. Hum. Genet. 88:99-105(2011) · UniProtKB (1) · Mapped (2) |
| Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Horn D., Kapeller J., Rivera-Brugues N., Moog U., Lorenz-Depiereux B., Eck S., Hempel M., Wagenstaller J., Gawthrope A., Monaco A.P. et al. Hum. Mutat. 31:E1851-E1860(2010) · UniProtKB (1) · Mapped (11) |
| Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. Bandah-Rozenfeld D., Collin R.W., Banin E., van den Born L.I., Coene K.L., Siemiatkowska A.M., Zelinger L., Khan M.I., Lefeber D.J., Erdinest I. et al. Am. J. Hum. Genet. 87:199-208(2010) · UniProtKB (1) · Mapped (2) |
| Common genetic variants associate with serum phosphorus concentration. Kestenbaum B., Glazer N.L., Kottgen A., Felix J.F., Hwang S.J., Liu Y., Lohman K., Kritchevsky S.B., Hausman D.B., Petersen A.K. et al. J. Am. Soc. Nephrol. 21:1223-1232(2010) · Mapped (19) |
| Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. Azam M., Collin R.W., Shah S.T., Shah A.A., Khan M.I., Hussain A., Sadeque A., Strom T.M., Thiadens A.A., Roosing S. et al. Mol. Vis. 16:774-781(2010) · Mapped (4) |
| Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. Bandah-Rozenfeld D., Littink K.W., Ben-Yosef T., Strom T.M., Chowers I., Collin R.W., den Hollander A.I., van den Born L.I., Zonneveld M.N., Merin S. et al. Invest. Ophthalmol. Vis. Sci. 51:4387-4394(2010) · Mapped (4) |
| Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. Schraders M., Oostrik J., Huygen P.L., Strom T.M., van Wijk E., Kunst H.P., Hoefsloot L.H., Cremers C.W., Admiraal R.J., Kremer H. Am. J. Hum. Genet. 86:604-610(2010) · UniProtKB (1) |