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Items: 1 to 50 of 1317

1.

Elucidation of the genetic background in familial multiple sclerosis requires genetic work-up.

Finsterer J.

Clin Neurol Neurosurg. 2019 Jul 12:105425. doi: 10.1016/j.clineuro.2019.105425. [Epub ahead of print] No abstract available.

PMID:
31324406
2.

Cerebral imaging in adult mitochondrial disorders.

Finsterer J.

J Neurol Sci. 2019 Jul 10;404:29-35. doi: 10.1016/j.jns.2019.07.013. [Epub ahead of print] Review.

PMID:
31323519
3.

Fractal genetics and heterogeneous phenotypes of mitochondrial disease require appropriate logistics of managing network structures.

Finsterer J.

Mol Genet Metab Rep. 2019 Jul 5;20:100492. doi: 10.1016/j.ymgmr.2019.100492. eCollection 2019 Sep. No abstract available.

4.

Letter by Scorza et al Regarding Article "High-Risk Human Papillomavirus Infection and the Risk of Cardiovascular Disease in Korean Women".

Scorza FA, Fonseca MCM, Finsterer J, Girao MJBC.

Circ Res. 2019 Jul 19;125(3):e13-e14. doi: 10.1161/CIRCRESAHA.119.315473. Epub 2019 Jul 18. No abstract available.

PMID:
31318651
5.

Late-onset Pompe disease manifests in the brain.

Finsterer J.

Mol Genet Metab Rep. 2019 Jun 21;20:100488. doi: 10.1016/j.ymgmr.2019.100488. eCollection 2019 Sep. No abstract available.

6.
7.

Noncompaction and Takotsubo Syndrome in a Neuromuscular Disorder.

Finsterer J, Stöllberger C, Winkler WB.

Case Rep Cardiol. 2019 Jun 3;2019:6902751. doi: 10.1155/2019/6902751. eCollection 2019.

8.

Management of noncompaction requires optimisation.

Finsterer J, Stöllberger C.

Echo Res Pract. 2019 May 31;6(3):L1-L2. doi: 10.1530/ERP-19-0008. eCollection 2019 Sep. No abstract available.

9.

Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia.

Wakil SM, Alhissi S, Al Dossari H, Alqahtani A, Shibin S, Melaiki BT, Finsterer J, Al-Hashem A, Bohlega S, Alazami AM.

BMC Med Genet. 2019 Jul 4;20(1):119. doi: 10.1186/s12881-019-0851-6.

10.

Cardiac disease in Kearns-Sayre syndrome requires comprehensive management.

Finsterer J.

Cardiol Young. 2019 Jul 4:1-2. doi: 10.1017/S1047951119001562. [Epub ahead of print] No abstract available.

PMID:
31270000
11.

Is the MT-TN variant m.5703G>A truly causative for myoclonic epilepsy with ragged red fibers syndrome plus?

Finsterer J.

Chin Med J (Engl). 2019 Jul 20;132(14):1752. doi: 10.1097/CM9.0000000000000337. No abstract available.

PMID:
31268906
12.

Barth syndrome: mechanisms and management.

Finsterer J.

Appl Clin Genet. 2019 Jun 5;12:95-106. doi: 10.2147/TACG.S171481. eCollection 2019.

13.

Mortality in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes does not depend on levetirazetam alone.

Finsterer J.

Chin Med J (Engl). 2019 Jun 20;132(12):1512. doi: 10.1097/CM9.0000000000000163. No abstract available.

14.

Early identification of LHON carriers may improve outcome.

Finsterer J.

Rom J Ophthalmol. 2019 Jan-Mar;63(1):102-103. No abstract available.

15.

Management of manifesting FOXRED1 carriers is complex.

Finsterer J, Zarrouk-Mahjoub S.

Mol Genet Metab Rep. 2019 Feb 23;19:100463. doi: 10.1016/j.ymgmr.2019.100463. eCollection 2019 Jun. No abstract available.

16.

Exercise-induced Falls Attributed to the Variant m.8344A>G.

Finsterer J.

Intern Med. 2019 Jun 7. doi: 10.2169/internalmedicine.1822-18. [Epub ahead of print] No abstract available.

17.

Update on hereditary, autosomal dominant cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).

Finsterer J, Scorza CA, Scorza FA, Wakil SM.

Acta Neurol Belg. 2019 Jun 8. doi: 10.1007/s13760-019-01158-8. [Epub ahead of print] Review.

PMID:
31177426
18.

MELAS requires broad clinical and genetic work-up.

Finsterer J.

Acta Diabetol. 2019 Jun 5. doi: 10.1007/s00592-019-01360-3. [Epub ahead of print] No abstract available.

PMID:
31165265
19.

Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C.

Finsterer J, Laccone F.

Metab Brain Dis. 2019 Aug;34(4):1023-1027. doi: 10.1007/s11011-019-00425-0. Epub 2019 Jun 1.

PMID:
31152339
20.

Evidence for laminar cortical necrosis as histological equivalent of a non-classical stroke-like lesion in an m.8344A>G carrier.

Finsterer J.

Neuropathology. 2019 May 24. doi: 10.1111/neup.12561. [Epub ahead of print] No abstract available.

PMID:
31124586
21.

Neurological Perspectives of Neurogenic Pulmonary Edema.

Finsterer J.

Eur Neurol. 2019;81(1-2):94-102. doi: 10.1159/000500139. Epub 2019 May 22. Review.

22.

Comment on APLAR Grand Round: Phenotypes of single mtDNA deletions may unequivocally suggest mitochondrial disease.

Finsterer J.

Int J Rheum Dis. 2019 Jun;22(6):1165-1166. doi: 10.1111/1756-185X.13601. Epub 2019 May 13. No abstract available.

PMID:
31087478
23.

Before attributing CPEO and ptosis to the variant m.14819T>G its pathogenicity needs to be established.

Finsterer J.

J Neurol Sci. 2019 Jun 15;401:110-111. doi: 10.1016/j.jns.2019.04.034. Epub 2019 Apr 25. No abstract available.

PMID:
31075681
24.

Pharmacotherapeutic management of epilepsy in MERRF syndrome.

Finsterer J.

Expert Opin Pharmacother. 2019 Jul;20(10):1289-1297. doi: 10.1080/14656566.2019.1609941. Epub 2019 May 7. Review.

PMID:
31063406
25.

Beneficiality of levosimendan for Takotsubo syndrome remains uncertain.

Finsterer J, Stöllberger C.

Ann Transl Med. 2019 Mar;7(5):109. doi: 10.21037/atm.2019.02.01. No abstract available.

26.

Consider Stroke-Like Episodes as a Differential in Children with Acute Hemiparesis.

Finsterer J.

J Neurosci Rural Pract. 2019 Apr-Jun;10(2):379-380. doi: 10.4103/jnrp.jnrp_357_18. No abstract available.

27.

Myotonic Dystrophy-2: Unusual Phenotype Due to a Small CCTG-expansion.

J F, C S, A RF, M LG, M G.

Balkan J Med Genet. 2018 Dec 31;21(2):39-43. doi: 10.2478/bjmg-2018-0024. eCollection 2018 Dec.

28.

Diagnostic and therapeutic aspects of Leigh syndrome due to the variant m.10197G>A.

Finsterer J.

J Neurol Sci. 2019 May 15;400:182-183. doi: 10.1016/j.jns.2019.04.004. Epub 2019 Apr 3. No abstract available.

PMID:
30978515
29.

How Do Depressive Mood or Antidepressants Acutely Increase Serum Catecholamines?

Finsterer J, Stollberger C.

Clin Pract Epidemiol Ment Health. 2019 Jan 23;15:1-2. doi: 10.2174/1745017901915010001. eCollection 2019. No abstract available.

30.

Familial, long-term pollakisuria as initial manifestation of HSP4 due to the SPAST variant c.683-2A>C.

Finsterer J, Wakil SM, Laccone F.

J Clin Neurosci. 2019 Jun;64:4-5. doi: 10.1016/j.jocn.2019.03.067. Epub 2019 Apr 5.

PMID:
30962061
31.

Pulmonary hypertension may be secondary in carriers of compound heterozygous FOXRED1 variants.

Finsterer J.

Mol Genet Metab Rep. 2019 Mar 22;19:100468. doi: 10.1016/j.ymgmr.2019.100468. eCollection 2019 Jun. No abstract available.

32.

Psychosis in Leigh syndrome.

Finsterer J, Zarrouk-Mahjoub S.

Asian J Psychiatr. 2019 Mar;41:76-77. doi: 10.1016/j.ajp.2017.04.011. No abstract available.

PMID:
30954129
33.

Exclusive affection of the brain in m.4450G>A carriers rather suggests Leigh syndrome than MELAS.

Finsterer J.

Brain Dev. 2019 Apr 2. pii: S0387-7604(19)30109-3. doi: 10.1016/j.braindev.2019.03.011. [Epub ahead of print] No abstract available.

PMID:
30952460
34.

Mitochondrial metabolic stroke: Phenotype and genetics of stroke-like episodes.

Finsterer J.

J Neurol Sci. 2019 May 15;400:135-141. doi: 10.1016/j.jns.2019.03.021. Epub 2019 Mar 23. Review.

PMID:
30946993
35.

Early-age Ndufs4 knockout mice are an inappropriate animal model of Leigh syndrome.

Finsterer J.

Radiol Phys Technol. 2019 Jun;12(2):230-231. doi: 10.1007/s12194-019-00511-z. Epub 2019 Apr 1. No abstract available.

PMID:
30937725
36.

Whole exome should be preferred over Sanger sequencing in suspected mitochondrial myopathy.

Finsterer J.

Neurobiol Aging. 2019 Jun;78:166-167. doi: 10.1016/j.neurobiolaging.2018.12.021. Epub 2019 Mar 1. No abstract available.

PMID:
30933818
37.

Diagnosing MELAS requires not only an mtDNA variant but also an appropriate phenotype.

Finsterer J, Zarrouk-Mahjoub S.

Doc Ophthalmol. 2019 Jun;138(3):255-256. doi: 10.1007/s10633-019-09690-x. Epub 2019 Mar 28. No abstract available.

PMID:
30924003
38.

Prognostic role of Pro-BNP levels in left ventricular hypertrabeculation/non-compaction and neuromuscular disorders: results of a pilot study.

Malli N, Wilfinger-Lutz N, Krugluger W, Stöllberger C, Winkler-Dwora K M, Finsterer J.

Minerva Cardioangiol. 2019 Jun;67(3):254-256. doi: 10.23736/S0026-4725.19.04908-9. Epub 2019 Mar 27. No abstract available.

PMID:
30919605
39.

Genetic Data Are a Prerequisite for Interpreting Clinical and Muscle Biopsy Findings in MELAS.

Finsterer J.

Yonsei Med J. 2019 Apr;60(4):399-400. doi: 10.3349/ymj.2019.60.4.399. No abstract available.

40.

Pure or Complex Hereditary Spastic Paraplegia Type 4?

Finsterer J.

J Clin Neurol. 2019 Apr;15(2):265-266. doi: 10.3988/jcn.2019.15.2.265. Epub 2019 Mar 11. No abstract available.

41.

Methyl-DOPA causing reversible peripheral facial palsy.

Finsterer J.

Clin Neurol Neurosurg. 2019 Apr;179:53-54. doi: 10.1016/j.clineuro.2019.02.008. Epub 2019 Feb 28. No abstract available.

PMID:
30844617
42.

MELAS reflects a clinical concept with heterogeneous genetic background.

Finsterer J, Zarrouk-Mahjoub S.

Arq Neuropsiquiatr. 2019 Feb;77(2):142-143. doi: 10.1590/0004-282X20190003. No abstract available.

43.

Pathogenicity of the m.1630A > G variant remains elusive if related mutation carriers with similar heteroplasmy rates are asymptomatic.

Finsterer J.

Mol Genet Metab Rep. 2019 Feb 12;19:100461. doi: 10.1016/j.ymgmr.2019.100461. eCollection 2019 Jun. No abstract available.

44.

Congenital myasthenic syndromes.

Finsterer J.

Orphanet J Rare Dis. 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. Review.

45.

Phenotypic and genotypic peculiarities in Chinese patients with Leigh syndrome.

Finsterer J.

Chin Med J (Engl). 2019 Mar 5;132(5):626-629. doi: 10.1097/CM9.0000000000000090. No abstract available.

46.

Beneficiality of combined levetiracetam, clonazepam for myoclonus in MERRF requires further confirmation.

Finsterer J.

Chin Med J (Engl). 2019 Mar 5;132(5):622-623. doi: 10.1097/CM9.0000000000000042. No abstract available.

47.

Omega-3 consumption and sudden unexpected death in schizophrenia: a "fish" a day keeps heart disease away.

Scorza FA, Scorza CA, Fiorini AC, de Jesus Mari J, Freitas L, Finsterer J.

Psychopharmacology (Berl). 2019 Jul;236(7):2285-2286. doi: 10.1007/s00213-019-05201-7. Epub 2019 Feb 26. No abstract available.

PMID:
30806745
48.

Comments on: Isolated Nonocompaction Suggests Subclinical Myopathy.

Finsterer J.

Rev Bras Ginecol Obstet. 2019 Feb;41(2):135-136. doi: 10.1055/s-0038-1676600. Epub 2019 Feb 20.

50.

Assessment of cardiac disease in MELAS requires comprehensive, prospective work-up.

Finsterer J.

Int J Cardiol. 2019 Apr 1;280:29. doi: 10.1016/j.ijcard.2018.12.039. No abstract available.

PMID:
30771885

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