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Items: 50

1.

Age-Related Changes and Reference Values of Bicaudate Ratio and Sagittal Brainstem Diameters on MRI.

Garbade SF, Boy N, Heringer J, Kölker S, Harting I.

Neuropediatrics. 2018 Aug;49(4):269-275. doi: 10.1055/s-0038-1660475. Epub 2018 Jun 5.

PMID:
29871004
2.

Patterns, evolution, and severity of striatal injury in insidious- versus acute-onset glutaric aciduria type 1.

Boy N, Garbade SF, Heringer J, Seitz A, Kölker S, Harting I.

J Inherit Metab Dis. 2018 May 2. doi: 10.1007/s10545-018-0187-y. [Epub ahead of print]

PMID:
29721918
3.

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).

Lenz D, McClean P, Kansu A, Bonnen PE, Ranucci G, Thiel C, Straub BK, Harting I, Alhaddad B, Dimitrov B, Kotzaeridou U, Wenning D, Iorio R, Himes RW, Kuloğlu Z, Blakely EL, Taylor RW, Meitinger T, Kölker S, Prokisch H, Hoffmann GF, Haack TB, Staufner C.

Genet Med. 2018 Feb 8. doi: 10.1038/gim.2017.260. [Epub ahead of print]

PMID:
29419818
4.

Lomustine and Bevacizumab in Progressive Glioblastoma.

Wick W, Gorlia T, Bendszus M, Taphoorn M, Sahm F, Harting I, Brandes AA, Taal W, Domont J, Idbaih A, Campone M, Clement PM, Stupp R, Fabbro M, Le Rhun E, Dubois F, Weller M, von Deimling A, Golfinopoulos V, Bromberg JC, Platten M, Klein M, van den Bent MJ.

N Engl J Med. 2017 Nov 16;377(20):1954-1963. doi: 10.1056/NEJMoa1707358.

5.

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System.

Vrij-van den Bos S, Hol JA, La Piana R, Harting I, Vanderver A, Barkhof F, Cayami F, van Wieringen WN, Pouwels PJW, van der Knaap MS, Bernard G, Wolf NI.

Neuropediatrics. 2017 Jun;48(3):152-160. doi: 10.1055/s-0037-1599141. Epub 2017 Mar 1.

PMID:
28561206
6.

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.

Boy N, Heringer J, Brackmann R, Bodamer O, Seitz A, Kölker S, Harting I.

Orphanet J Rare Dis. 2017 Apr 24;12(1):77. doi: 10.1186/s13023-017-0612-6.

7.

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.

Boy N, Mühlhausen C, Maier EM, Heringer J, Assmann B, Burgard P, Dixon M, Fleissner S, Greenberg CR, Harting I, Hoffmann GF, Karall D, Koeller DM, Krawinkel MB, Okun JG, Opladen T, Posset R, Sahm K, Zschocke J, Kölker S; Additional individual contributors.

J Inherit Metab Dis. 2017 Jan;40(1):75-101. doi: 10.1007/s10545-016-9999-9. Epub 2016 Nov 16. Review.

PMID:
27853989
8.

Neurometabolic disorders: Five new things.

Willemsen MA, Harting I, Wevers RA.

Neurol Clin Pract. 2016 Aug;6(4):348-357. doi: 10.1212/CPJ.0000000000000266. Review.

9.

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.

Kopajtich R, Murayama K, Janecke AR, Haack TB, Breuer M, Knisely AS, Harting I, Ohashi T, Okazaki Y, Watanabe D, Tokuzawa Y, Kotzaeridou U, Kölker S, Sauer S, Carl M, Straub S, Entenmann A, Gizewski E, Feichtinger RG, Mayr JA, Lackner K, Strom TM, Meitinger T, Müller T, Ohtake A, Hoffmann GF, Prokisch H, Staufner C.

Am J Hum Genet. 2016 Aug 4;99(2):414-22. doi: 10.1016/j.ajhg.2016.05.027. Epub 2016 Jul 14.

10.

MRI and (1)H-MRS in adenosine kinase deficiency.

Staufner C, Blom HJ, Dionisi-Vici C, Freisinger P, Makhseed N, Ballhausen D, Kölker S, Hoffmann GF, Harting I.

Neuroradiology. 2016 Jul;58(7):697-703. doi: 10.1007/s00234-016-1676-z. Epub 2016 Mar 18.

PMID:
26993811
11.

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.

Staufner C, Haack TB, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Lenz D, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Ozolek JA, Zschocke J, Kuster A, Dick A, Das AM, Wieland T, Terrile C, Strom TM, Meitinger T, Prokisch H, Hoffmann GF.

J Inherit Metab Dis. 2016 Jan;39(1):3-16. doi: 10.1007/s10545-015-9896-7. Epub 2015 Nov 5.

PMID:
26541327
12.

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.

Haack TB, Staufner C, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Zschocke J, Kremer LS, Graf E, Schwarzmayr T, Bader DM, Gagneur J, Wieland T, Terrile C, Strom TM, Meitinger T, Hoffmann GF, Prokisch H.

Am J Hum Genet. 2015 Jul 2;97(1):163-9. doi: 10.1016/j.ajhg.2015.05.009. Epub 2015 Jun 11.

13.

(1)H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites.

Harting I, Boy N, Heringer J, Seitz A, Bendszus M, Pouwels PJ, Kölker S.

J Inherit Metab Dis. 2015 Sep;38(5):829-38. doi: 10.1007/s10545-015-9826-8. Epub 2015 Apr 10.

PMID:
25860816
14.

A phase II, randomized, study of weekly APG101+reirradiation versus reirradiation in progressive glioblastoma.

Wick W, Fricke H, Junge K, Kobyakov G, Martens T, Heese O, Wiestler B, Schliesser MG, von Deimling A, Pichler J, Vetlova E, Harting I, Debus J, Hartmann C, Kunz C, Platten M, Bendszus M, Combs SE.

Clin Cancer Res. 2014 Dec 15;20(24):6304-13. doi: 10.1158/1078-0432.CCR-14-0951-T. Epub 2014 Oct 22.

15.

Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.

Opladen T, Ebinger F, Zschocke J, Sengupta D, Ben-Omran T, Shahbeck N, Moog U, Fischer C, Bürger F, Haas D, Ruef P, Harting I, Al-Rifai H, Hoffmann GF.

J Child Neurol. 2014 Jan;29(1):36-42. doi: 10.1177/0883073812469049. Epub 2012 Dec 26.

PMID:
23271757
16.

Interpeduncular heterotopia in Joubert syndrome: a previously undescribed MR finding.

Harting I, Kotzaeridou U, Poretti A, Seitz A, Pietz J, Bendszus M, Boltshauser E.

AJNR Am J Neuroradiol. 2011 Aug;32(7):1286-9. doi: 10.3174/ajnr.A2488. Epub 2011 Jun 2.

17.

Use of guidelines improves the neurological outcome in glutaric aciduria type I.

Heringer J, Boy SP, Ensenauer R, Assmann B, Zschocke J, Harting I, Lücke T, Maier EM, Mühlhausen C, Haege G, Hoffmann GF, Burgard P, Kölker S.

Ann Neurol. 2010 Nov;68(5):743-52. doi: 10.1002/ana.22095.

PMID:
21031586
18.

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

Harting I, Neumaier-Probst E, Seitz A, Maier EM, Assmann B, Baric I, Troncoso M, Mühlhausen C, Zschocke J, Boy NP, Hoffmann GF, Garbade SF, Kölker S.

Brain. 2009 Jul;132(Pt 7):1764-82. doi: 10.1093/brain/awp112. Epub 2009 May 11.

PMID:
19433437
19.

Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features.

Wolf NI, Rahman S, Schmitt B, Taanman JW, Duncan AJ, Harting I, Wohlrab G, Ebinger F, Rating D, Bast T.

Epilepsia. 2009 Jun;50(6):1596-607. doi: 10.1111/j.1528-1167.2008.01877.x. Epub 2008 Nov 19.

20.

Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.

Briggs TA, Wolf NI, D'Arrigo S, Ebinger F, Harting I, Dobyns WB, Livingston JH, Rice GI, Crooks D, Rowland-Hill CA, Squier W, Stoodley N, Pilz DT, Crow YJ.

Am J Med Genet A. 2008 Dec 15;146A(24):3173-80. doi: 10.1002/ajmg.a.32614.

PMID:
19012351
21.

Abnormal myelination in Angelman syndrome.

Harting I, Seitz A, Rating D, Sartor K, Zschocke J, Janssen B, Ebinger F, Wolf NI.

Eur J Paediatr Neurol. 2009 May;13(3):271-6. doi: 10.1016/j.ejpn.2008.04.005. Epub 2008 Jun 24.

PMID:
18573670
22.

Looking beyond the basal ganglia: the spectrum of MRI changes in methylmalonic acidaemia.

Harting I, Seitz A, Geb S, Zwickler T, Porto L, Lindner M, Kölker S, Hörster F.

J Inherit Metab Dis. 2008 Jun;31(3):368-78. doi: 10.1007/s10545-008-0801-5. Epub 2008 May 9.

PMID:
18470632
23.

[Unclear parietal swelling synchronous with screaming].

Lettau M, Harting I, Schenk JP, Sartor K.

Radiologe. 2008 Nov;48(11):1055-7. doi: 10.1007/s00117-008-1664-3. German. No abstract available.

PMID:
18408908
24.

Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy.

Wolf NI, Harting I, Innes AM, Patzer S, Zeitler P, Schneider A, Wolff A, Baier K, Zschocke J, Ebinger F, Boltshauser E, Rating D.

Neuropediatrics. 2007 Apr;38(2):64-70.

PMID:
17712733
25.

Combined EEG and MEG analysis of early somatosensory evoked activity in children and adolescents with focal epilepsies.

Bast T, Wright T, Boor R, Harting I, Feneberg R, Rupp A, Hoechstetter K, Rating D, Baumgärtner U.

Clin Neurophysiol. 2007 Aug;118(8):1721-35. Epub 2007 Jun 14.

PMID:
17572142
26.

Noninvasive source localization of interictal EEG spikes: effects of signal-to-noise ratio and averaging.

Bast T, Boppel T, Rupp A, Harting I, Hoechstetter K, Fauser S, Schulze-Bonhage A, Rating D, Scherg M.

J Clin Neurophysiol. 2006 Dec;23(6):487-97.

PMID:
17143137
27.

Acute haemorrhage into a microcystic meningioma leading to cerebral herniation.

Sakowitz OW, Harting I, Kohlhof P, Unterberg AW, Steiner HH.

Br J Neurosurg. 2005 Jun;19(3):260-4.

PMID:
16455530
28.

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.

Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schöneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schröder JM, Lochmüller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K.

Nat Genet. 2005 Dec;37(12):1312-4. Epub 2005 Nov 13.

PMID:
16282977
29.

Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency.

Külkens S, Harting I, Sauer S, Zschocke J, Hoffmann GF, Gruber S, Bodamer OA, Kölker S.

Neurology. 2005 Jun 28;64(12):2142-4.

PMID:
15985591
30.

Diffuse cortical necrosis in a neonate with incontinentia pigmenti and an encephalitis-like presentation.

Wolf NI, Krämer N, Harting I, Seitz A, Ebinger F, Pöschl J, Rating D.

AJNR Am J Neuroradiol. 2005 Jun-Jul;26(6):1580-2.

31.

Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.

Wolf NI, Harting I, Boltshauser E, Wiegand G, Koch MJ, Schmitt-Mechelke T, Martin E, Zschocke J, Uhlenberg B, Hoffmann GF, Weber L, Ebinger F, Rating D.

Neurology. 2005 Apr 26;64(8):1461-4.

PMID:
15851747
32.

T2-hyperintense cerebellar cortex in Marinesco-Sjögren syndrome.

Harting I, Blaschek A, Wolf NI, Seitz A, Haupt M, Goebel HH, Rating D, Sartor K, Ebinger F.

Neurology. 2004 Dec 28;63(12):2448-9. No abstract available.

PMID:
15623732
33.

Quantitative single-voxel spectroscopy: the reciprocity principle for receive-only head coils.

Jost G, Harting I, Heiland S.

J Magn Reson Imaging. 2005 Jan;21(1):66-71.

PMID:
15611950
34.

Adult alpha-mannosidosis: clinical progression in the absence of demyelination.

Gutschalk A, Harting I, Cantz M, Springer C, Rohrschneider K, Meinck HM.

Neurology. 2004 Nov 9;63(9):1744-6.

PMID:
15534274
35.

Neuroradiological findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency).

Neumaier-Probst E, Harting I, Seitz A, Ding C, Kolker S.

J Inherit Metab Dis. 2004;27(6):869-76. Review.

PMID:
15505394
36.

[Magnetic resonance spectroscopy of brain tumours].

Harting I, Jost G, Hacke N, Hartmann M.

Nervenarzt. 2005 Apr;76(4):403-17. Review. German.

PMID:
15349736
37.

Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF.

Wolf NI, Willemsen MA, Engelke UF, van der Knaap MS, Pouwels PJ, Harting I, Zschocke J, Sistermans EA, Rating D, Wevers RA.

Neurology. 2004 May 11;62(9):1503-8.

PMID:
15136672
38.

Characterization of necrotic meningioma using diffusion MRI, perfusion MRI, and MR spectroscopy: case report and review of the literature.

Harting I, Hartmann M, Bonsanto MM, Sommer C, Sartor K.

Neuroradiology. 2004 Mar;46(3):189-93. Epub 2004 Feb 4. Review.

PMID:
15034700
39.

[Tumor simulating lesions on cranial MR imaging].

Harting I, Hartmann M, Sartor K.

Rofo. 2004 Mar;176(3):302-12. Review. German.

PMID:
15026942
40.

[Normal and abnormal water diffusion in the brain].

Sartor K, Hartmann M, Fiebach J, Harting I, Wilhelm T, Heiland S.

Rofo. 2003 Oct;175(10):1317-29. Review. German.

PMID:
14556099
41.

New pattern of brain MRI lesions in isolated complex I deficiency.

Wolf NI, Seitz A, Harting I, Smeitink JA, Trijbels F, van den Heuvel LP, Schlemmer H, Ebinger F, Evert W, Rating D.

Neuropediatrics. 2003 Jun;34(3):156-9.

PMID:
12910441
42.

[Focal cortical dysplasias: neuroradiological findings and differential diagnosis].

Kirchhof K, Harting I, Bast T, Seitz A.

Rofo. 2003 Aug;175(8):1056-63. German.

PMID:
12886473
43.

Combination of caudal myxopapillary ependymoma and dermal sinus: a single shared embryologic lesion?

Wolf NI, Harting I, Hartmann M, Aschoff A, Sommer C, Rating D, Ebinger F.

Dev Med Child Neurol. 2003 Aug;45(8):568-70.

44.

Differentiating primary central nervous system lymphoma from glioma in humans using localised proton magnetic resonance spectroscopy.

Harting I, Hartmann M, Jost G, Sommer C, Ahmadi R, Heiland S, Sartor K.

Neurosci Lett. 2003 May 22;342(3):163-6.

PMID:
12757890
45.

[Multiple sclerosis: imaging, diagnostic criteria and differential diagnosis].

Harting I, Sellner J, Meyding-Lamadé U, Sartor K.

Rofo. 2003 May;175(5):613-22. Review. German.

PMID:
12743852
46.

Distinguishing of primary cerebral lymphoma from high-grade glioma with perfusion-weighted magnetic resonance imaging.

Hartmann M, Heiland S, Harting I, Tronnier VM, Sommer C, Ludwig R, Sartor K.

Neurosci Lett. 2003 Feb 27;338(2):119-22.

PMID:
12566167
47.

Lack of creatine in muscle and brain in an adult with GAMT deficiency.

Schulze A, Bachert P, Schlemmer H, Harting I, Polster T, Salomons GS, Verhoeven NM, Jakobs C, Fowler B, Hoffmann GF, Mayatepek E.

Ann Neurol. 2003 Feb;53(2):248-51.

PMID:
12557293
48.

[Canavan disease].

Harting I, Seitz A.

Rofo. 2001 Oct;173(10):M275-6. German. No abstract available.

PMID:
11710318
49.

Cytochrome oxidase activity and mitochondrial gene expression in skeletal muscle of patients with chronic obstructive pulmonary disease.

Sauleda J, García-Palmer F, Wiesner RJ, Tarraga S, Harting I, Tomás P, Gómez C, Saus C, Palou A, Agustí AG.

Am J Respir Crit Care Med. 1998 May;157(5 Pt 1):1413-7.

PMID:
9603116
50.

Quantification of transcript-to-template ratios as a measure of gene expression using RT-PCR.

Harting I, Wiesner RJ.

Biotechniques. 1997 Sep;23(3):450-5.

PMID:
9298215

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