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Items: 1 to 50 of 75

1.

Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration.

Stendel C, Neuhofer C, Floride E, Yuqing S, Ganetzky RD, Park J, Freisinger P, Kornblum C, Kleinle S, Schöls L, Distelmaier F, Stettner GM, Büchner B, Falk MJ, Mayr JA, Synofzik M, Abicht A, Haack TB, Prokisch H, Wortmann SB, Murayama K, Fang F, Klopstock T; ATP6 Study Group.

Neurol Genet. 2020 Jan 13;6(1):e393. doi: 10.1212/NXG.0000000000000393. eCollection 2020 Feb.

2.

Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.

Visuttijai K, Hedberg-Oldfors C, Thomsen C, Glamuzina E, Kornblum C, Tasca G, Hernandez-Lain A, Sandstedt J, Dellgren G, Roach P, Oldfors A.

J Clin Endocrinol Metab. 2020 Feb 1;105(2). pii: dgz075. doi: 10.1210/clinem/dgz075.

3.

Consensus-based care recommendations for adults with myotonic dystrophy type 2.

Schoser B, Montagnese F, Bassez G, Fossati B, Gamez J, Heatwole C, Hilbert J, Kornblum C, Kostera-Pruszczyk A, Krahe R, Lusakowska A, Meola G, Moxley R 3rd, Thornton C, Udd B, Formaker P; Myotonic Dystrophy Foundation.

Neurol Clin Pract. 2019 Aug;9(4):343-353. doi: 10.1212/CPJ.0000000000000645. Review.

4.

An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease.

Kulessa M, Weyer-Menkhoff I, Viergutz L, Kornblum C, Claeys KG, Schneider I, Plöckinger U, Young P, Boentert M, Vielhaber S, Mawrin C, Bergmann M, Weis J, Ziagaki A, Stenzel W, Deschauer M, Nolte D, Hahn A, Schoser B, Schänzer A.

Neuropathol Appl Neurobiol. 2019 Sep 23. doi: 10.1111/nan.12580. [Epub ahead of print]

PMID:
31545528
5.

Sonographic assessment of the optic nerve and the central retinal artery in idiopathic intracranial hypertension.

Jeub M, Schlapakow E, Ratz M, Kindler C, Schievelkamp AH, Wabbels B, Kornblum C.

J Clin Neurosci. 2020 Feb;72:292-297. doi: 10.1016/j.jocn.2019.09.003. Epub 2019 Sep 17.

PMID:
31540860
6.

High-Resolution Ultrasound as a Powerful Diagnostic Tool in Peripheral Nerve Lesions: Detection of an Intraneural Ganglion Cyst in a Patient with Painful Subacute Peroneal Nerve Palsy.

Nitsch L, Kurzwelly D, Kornblum C, Pieper C, Clusmann H, Müller M.

Ultraschall Med. 2020 Feb;41(1):77-79. doi: 10.1055/a-0990-9989. Epub 2019 Sep 2. No abstract available.

PMID:
31476785
7.

Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial.

Bax BE, Levene M, Bain MD, Fairbanks LD, Filosto M, Kalkan Uçar S, Klopstock T, Kornblum C, Mandel H, Rahman S, Roubertie A, Scarpelli M, Sedgwick PM, Baru M, Sellos-Moura M, Price J, Horn P, Nirmalananthan N.

J Clin Med. 2019 Jul 24;8(8). pii: E1096. doi: 10.3390/jcm8081096.

8.

Comprehensive Cardiac Magnetic Resonance for Assessment of Cardiac Involvement in Myotonic Muscular Dystrophy Type 1 and 2 Without Known Cardiovascular Disease.

Luetkens JA, von Landenberg C, Isaak A, Faron A, Kuetting D, Gliem C, Dabir D, Kornblum C, Thomas D.

Circ Cardiovasc Imaging. 2019 Jun;12(6):e009100. doi: 10.1161/CIRCIMAGING.119.009100. Epub 2019 May 29. No abstract available.

PMID:
31137956
9.

Distinct segregation of the pathogenic m.5667G>A mitochondrial tRNAAsn mutation in extraocular and skeletal muscle in chronic progressive external ophthalmoplegia.

Schlapakow E, Peeva V, Zsurka G, Jeub M, Wabbels B, Kornblum C, Kunz WS.

Neuromuscul Disord. 2019 May;29(5):358-367. doi: 10.1016/j.nmd.2019.02.009. Epub 2019 Feb 25.

PMID:
30962064
10.

Tracking the brain in myotonic dystrophies: A 5-year longitudinal follow-up study.

Gliem C, Minnerop M, Roeske S, Gärtner H, Schoene-Bake JC, Adler S, Witt JA, Hoffstaedter F, Schneider-Gold C, Betz RC, Helmstaedter C, Tittgemeyer M, Amunts K, Klockgether T, Weber B, Kornblum C.

PLoS One. 2019 Mar 7;14(3):e0213381. doi: 10.1371/journal.pone.0213381. eCollection 2019.

11.

Retinoencephalopathy with occipital lobe epilepsy in an OPA-1 mutation carrier.

Nass RD, Hansen N, Quesada C, Rüber T, Kornblum C, Zsurka G, Hermann P, Becker A, Gärtner F, Hattingen E, Block W, Steidl E, Elger CE, Surges R, Kunz WS.

Seizure. 2019 Mar;66:1-3. doi: 10.1016/j.seizure.2019.01.029. Epub 2019 Jan 30. No abstract available.

12.

Current Progress in CNS Imaging of Myotonic Dystrophy.

Minnerop M, Gliem C, Kornblum C.

Front Neurol. 2018 Aug 21;9:646. doi: 10.3389/fneur.2018.00646. eCollection 2018. Review.

13.

The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice?

Clemen CS, Winter L, Strucksberg KH, Berwanger C, Türk M, Kornblum C, Florin A, Aguilar-Pimentel JA, Amarie OV, Becker L, Garrett L, Hans W, Moreth K, Neff F, Pingen L, Rathkolb B, Rácz I, Rozman J, Treise I, Fuchs H, Gailus-Durner V, de Angelis MH, Vorgerd M, Eichinger L, Schröder R.

Biochem Biophys Res Commun. 2018 Sep 18;503(4):2770-2777. doi: 10.1016/j.bbrc.2018.08.038. Epub 2018 Aug 9.

14.

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

Lee Y, Jonson PH, Sarparanta J, Palmio J, Sarkar M, Vihola A, Evilä A, Suominen T, Penttilä S, Savarese M, Johari M, Minot MC, Hilton-Jones D, Maddison P, Chinnery P, Reimann J, Kornblum C, Kraya T, Zierz S, Sue C, Goebel H, Azfer A, Ralston SH, Hackman P, Bucelli RC, Taylor JP, Weihl CC, Udd B.

J Clin Invest. 2018 Mar 1;128(3):1164-1177. doi: 10.1172/JCI97103. Epub 2018 Feb 19.

15.

AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance.

Lang-Roth R, Fischer-Krall E, Kornblum C, Nürnberg G, Meschede D, Goebel I, Nürnberg P, Beutner D, Kubisch C, Walger M, Volk AE.

Audiol Neurootol. 2017;22(1):30-40. doi: 10.1159/000474929. Epub 2017 Jun 10.

PMID:
28601886
16.

Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls.

Reimann J, Lehmann D, Hardy SA, Falkous G, Knowles CV, Jones RL, Kunz WS, Taylor RW, Kornblum C.

Neurol Genet. 2017 Apr 5;3(3):e147. doi: 10.1212/NXG.0000000000000147. eCollection 2017 Jun. No abstract available.

17.

Wernicke encephalopathy: SWI detects petechial hemorrhages in mammillary bodies in vivo.

Hattingen E, Beyle A, Müller A, Klockgether T, Kornblum C.

Neurology. 2016 Nov 1;87(18):1956-1957. No abstract available.

PMID:
27799475
18.

Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue.

Winter L, Wittig I, Peeva V, Eggers B, Heidler J, Chevessier F, Kley RA, Barkovits K, Strecker V, Berwanger C, Herrmann H, Marcus K, Kornblum C, Kunz WS, Schröder R, Clemen CS.

Acta Neuropathol. 2016 Sep;132(3):453-73. doi: 10.1007/s00401-016-1592-7. Epub 2016 Jul 8.

19.

Description and Preliminary Evaluation of a Curriculum for Teaching Conversational Skills to Children With High-Functioning Autism and Other Social Cognition Challenges.

Müller E, Cannon LR, Kornblum C, Clark J, Powers M.

Lang Speech Hear Serv Sch. 2016 Jul 1;47(3):191-208. doi: 10.1044/2016_LSHSS-15-0042.

PMID:
27276535
20.

Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy.

Winter L, Türk M, Harter PN, Mittelbronn M, Kornblum C, Norwood F, Jungbluth H, Thiel CT, Schlötzer-Schrehardt U, Schröder R.

Acta Neuropathol Commun. 2016 Apr 27;4(1):44. doi: 10.1186/s40478-016-0314-7.

21.

Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.

Altmann J, Büchner B, Nadaj-Pakleza A, Schäfer J, Jackson S, Lehmann D, Deschauer M, Kopajtich R, Lautenschläger R, Kuhn KA, Karle K, Schöls L, Schulz JB, Weis J, Prokisch H, Kornblum C, Claeys KG, Klopstock T.

J Neurol. 2016 May;263(5):961-972. doi: 10.1007/s00415-016-8086-3. Epub 2016 Mar 19.

PMID:
26995359
22.

Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.

Hallmann K, Kudin AP, Zsurka G, Kornblum C, Reimann J, Stüve B, Waltz S, Hattingen E, Thiele H, Nürnberg P, Rüb C, Voos W, Kopatz J, Neumann H, Kunz WS.

Brain. 2016 Feb;139(Pt 2):338-45. doi: 10.1093/brain/awv357. Epub 2015 Dec 17.

PMID:
26685157
23.

A new muscle glycogen storage disease associated with glycogenin-1 deficiency.

Malfatti E, Nilsson J, Hedberg-Oldfors C, Hernandez-Lain A, Michel F, Dominguez-Gonzalez C, Viennet G, Akman HO, Kornblum C, Van den Bergh P, Romero NB, Engel AG, DiMauro S, Oldfors A.

Ann Neurol. 2014 Dec;76(6):891-8. doi: 10.1002/ana.24284. Epub 2014 Oct 31.

24.

Urge incontinence and gastrointestinal symptoms in adult patients with pompe disease: a cross-sectional survey.

Karabul N, Skudlarek A, Berndt J, Kornblum C, Kley RA, Wenninger S, Tiling N, Mengel E, Plöckinger U, Vorgerd M, Deschauer M, Schoser B, Hanisch F.

JIMD Rep. 2014;17:53-61. doi: 10.1007/8904_2014_334. Epub 2014 Aug 26.

25.

Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.

Nicholls TJ, Zsurka G, Peeva V, Schöler S, Szczesny RJ, Cysewski D, Reyes A, Kornblum C, Sciacco M, Moggio M, Dziembowski A, Kunz WS, Minczuk M.

Hum Mol Genet. 2014 Dec 1;23(23):6147-62. doi: 10.1093/hmg/ddu336. Epub 2014 Jun 30.

26.

Pregnancy and delivery in women with Pompe disease.

Karabul N, Berndt J, Kornblum C, Kley RA, Wenninger S, Tiling N, Mengel E, Plöckinger U, Vorgerd M, Deschauer M, Schoser B, Hanisch F.

Mol Genet Metab. 2014 Jun;112(2):148-53. doi: 10.1016/j.ymgme.2014.03.010. Epub 2014 Mar 30.

PMID:
24726296
27.

Progressive cardiac dysfunction in Bethlem myopathy during pregnancy.

Flöck A, Kornblum C, Hammerstingl C, Claeys KG, Gembruch U, Merz WM.

Obstet Gynecol. 2014 Feb;123(2 Pt 2 Suppl 2):436-8. doi: 10.1097/AOG.0000000000000101.

PMID:
24413245
28.

[Diagnosis and therapy of late onset Pompe disease].

Schüller A, Kornblum C, Deschauer M, Vorgerd M, Schrank B, Mengel E, Lukacs Z, Gläser D, Young P, Plöckinger U, Schoser B.

Nervenarzt. 2013 Dec;84(12):1467-72. doi: 10.1007/s00115-013-3947-9. Review. German.

PMID:
24264645
29.

Diagnostic challenge and therapeutic dilemma in necrotizing myopathy.

Claeys KG, Gorodinskaya O, Handt S, Reimann J, Kress W, Kornblum C, Kuhl C, Schulz JB, Weis J.

Neurology. 2013 Sep 3;81(10):932-5. doi: 10.1212/WNL.0b013e3182a35285. Epub 2013 Aug 6. No abstract available.

PMID:
23921885
30.

Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).

Gonzalez M, Nampoothiri S, Kornblum C, Oteyza AC, Walter J, Konidari I, Hulme W, Speziani F, Schöls L, Züchner S, Schüle R.

Eur J Hum Genet. 2013 Nov;21(11):1214-8. doi: 10.1038/ejhg.2013.29. Epub 2013 Mar 13.

31.

Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP.

Schreiber S, Oldag A, Kornblum C, Kollewe K, Kropf S, Schoenfeld A, Feistner H, Jakubiczka S, Kunz WS, Scherlach C, Tempelmann C, Mawrin C, Dengler R, Schreiber F, Goertler M, Vielhaber S.

Muscle Nerve. 2013 Mar;47(3):385-95. doi: 10.1002/mus.23681. Epub 2013 Feb 4.

PMID:
23381770
32.

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.

Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H.

Nat Genet. 2013 Feb;45(2):214-9. doi: 10.1038/ng.2501. Epub 2013 Jan 13.

33.

Neuroimaging characteristics in mitochondrial encephalopathies associated with the m.3243A>G MTTL1 mutation.

Tschampa HJ, Urbach H, Greschus S, Kunz WS, Kornblum C.

J Neurol. 2013 Apr;260(4):1071-80. doi: 10.1007/s00415-012-6763-4. Epub 2012 Nov 30.

PMID:
23196335
34.

Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion.

Vielhaber S, Debska-Vielhaber G, Peeva V, Schoeler S, Kudin AP, Minin I, Schreiber S, Dengler R, Kollewe K, Zuschratter W, Kornblum C, Zsurka G, Kunz WS.

Acta Neuropathol. 2013 Feb;125(2):245-56. doi: 10.1007/s00401-012-1036-y. Epub 2012 Aug 28.

PMID:
22926664
35.

ZASPopathy with childhood-onset distal myopathy.

Strach K, Reimann J, Thomas D, Naehle CP, Kress W, Kornblum C.

J Neurol. 2012 Jul;259(7):1494-6. doi: 10.1007/s00415-012-6543-1. Epub 2012 May 23.

PMID:
22619057
36.

36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy.

Regnery C, Kornblum C, Hanisch F, Vielhaber S, Strigl-Pill N, Grunert B, Müller-Felber W, Glocker FX, Spranger M, Deschauer M, Mengel E, Schoser B.

J Inherit Metab Dis. 2012 Sep;35(5):837-45. Epub 2012 Jan 31.

PMID:
22290025
37.

The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease.

Minnerop M, Weber B, Schoene-Bake JC, Roeske S, Mirbach S, Anspach C, Schneider-Gold C, Betz RC, Helmstaedter C, Tittgemeyer M, Klockgether T, Kornblum C.

Brain. 2011 Dec;134(Pt 12):3530-46. doi: 10.1093/brain/awr299. Epub 2011 Nov 29.

38.

Antibodies to metabotropic glutamate receptor 5 in the Ophelia syndrome.

Lancaster E, Martinez-Hernandez E, Titulaer MJ, Boulos M, Weaver S, Antoine JC, Liebers E, Kornblum C, Bien CG, Honnorat J, Wong S, Xu J, Contractor A, Balice-Gordon R, Dalmau J.

Neurology. 2011 Nov 1;77(18):1698-701. doi: 10.1212/WNL.0b013e3182364a44. Epub 2011 Oct 19.

39.

Myopathy and neuropathy with pipestem capillaries and vascular activated complement deposition.

Reimann J, Kornblum C, Tolksdorf K, Brück W, van Landeghem FK.

Neurology. 2011 Jul 26;77(4):401-3. doi: 10.1212/WNL.0b013e3182267bb1. Epub 2011 Jul 13. No abstract available.

PMID:
21753180
40.

Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle.

Ullrich ND, Fischer D, Kornblum C, Walter MC, Niggli E, Zorzato F, Treves S.

Hum Mutat. 2011 Mar;32(3):309-17. doi: 10.1002/humu.21431. Epub 2011 Feb 3.

41.

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

Fratter C, Gorman GS, Stewart JD, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna MG, Rahman S, Omer SE, Klopstock T, Schoser B, Kornblum C, Czermin B, Lecky B, Blakely EL, Craig K, Chinnery PF, Turnbull DM, Horvath R, Taylor RW.

Neurology. 2010 May 18;74(20):1619-26. doi: 10.1212/WNL.0b013e3181df099f.

42.

Transient downbeat nystagmus after intravenous administration of the opioid piritramide.

Kaut O, Kornblum C.

J Neuroophthalmol. 2010 Jun;30(2):164. doi: 10.1097/WNO.0b013e3181c25477. No abstract available.

PMID:
20404748
43.

Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene.

Zsurka G, Hampel KG, Nelson I, Jardel C, Mirandola SR, Sassen R, Kornblum C, Marcorelles P, Lavoué S, Lombès A, Kunz WS.

Neurology. 2010 Feb 9;74(6):507-12. doi: 10.1212/WNL.0b013e3181cef7ab.

PMID:
20142618
44.

Side effects of anesthesia in DM2 as compared to DM1: a comparative retrospective study.

Kirzinger L, Schmidt A, Kornblum C, Schneider-Gold C, Kress W, Schoser B.

Eur J Neurol. 2010 Jun 1;17(6):842-5. doi: 10.1111/j.1468-1331.2009.02942.x. Epub 2010 Jan 20.

PMID:
20100232
45.

Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita.

Kornblum C, Lutterbey GG, Czermin B, Reimann J, von Kleist-Retzow JC, Jurkat-Rott K, Wattjes MP.

Acta Neurol Scand. 2010 Feb;121(2):131-5. doi: 10.1111/j.1600-0404.2009.01228.x. Epub 2009 Dec 28.

PMID:
20047568
46.

Endplate destruction due to maternal antibodies in arthrogryposis multiplex congenita.

Reimann J, Jacobson L, Vincent A, Kornblum C.

Neurology. 2009 Nov 24;73(21):1806-8. doi: 10.1212/WNL.0b013e3181c34a65. No abstract available.

PMID:
19933984
47.

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.

Strothotte S, Strigl-Pill N, Grunert B, Kornblum C, Eger K, Wessig C, Deschauer M, Breunig F, Glocker FX, Vielhaber S, Brejova A, Hilz M, Reiners K, Müller-Felber W, Mengel E, Spranger M, Schoser B.

J Neurol. 2010 Jan;257(1):91-7. doi: 10.1007/s00415-009-5275-3. Epub 2009 Aug 1.

PMID:
19649685
48.

Grey and white matter loss along cerebral midline structures in myotonic dystrophy type 2.

Minnerop M, Luders E, Specht K, Ruhlmann J, Schneider-Gold C, Schröder R, Thompson PM, Toga AW, Klockgether T, Kornblum C.

J Neurol. 2008 Dec;255(12):1904-9. doi: 10.1007/s00415-008-0997-1. Epub 2008 Sep 3.

49.

Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study.

Kesper K, Kornblum C, Reimann J, Lutterbey G, Schröder R, Wattjes MP.

Acta Neurol Scand. 2009 Aug;120(2):111-8. doi: 10.1111/j.1600-0404.2008.01129.x. Epub 2008 Dec 22.

PMID:
19154541
50.

Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.

Boes M, Bauer J, Urbach H, Elger CE, Frank S, Baron M, Zsurka G, Kunz WS, Kornblum C.

Seizure. 2009 Apr;18(3):232-4. doi: 10.1016/j.seizure.2008.08.003. Epub 2008 Sep 9.

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