Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 128

1.

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.

Zagaglia S, Selch C, Nisevic JR, Mei D, Michalak Z, Hernandez-Hernandez L, Krithika S, Vezyroglou K, Varadkar SM, Pepler A, Biskup S, Leão M, Gärtner J, Merkenschlager A, Jaksch M, Møller RS, Gardella E, Kristiansen BS, Hansen LK, Vari MS, Helbig KL, Desai S, Smith-Hicks CL, Hino-Fukuyo N, Talvik T, Laugesaar R, Ilves P, Õunap K, Körber I, Hartlieb T, Kudernatsch M, Winkler P, Schimmel M, Hasse A, Knuf M, Heinemeyer J, Makowski C, Ghedia S, Subramanian GM, Striano P, Thomas RH, Micallef C, Thom M, Werring DJ, Kluger GJ, Cross JH, Guerrini R, Balestrini S, Sisodiya SM.

Neurology. 2018 Nov 9. pii: 10.1212/WNL.0000000000006567. doi: 10.1212/WNL.0000000000006567. [Epub ahead of print]

PMID:
30413629
2.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xin Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC.

Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18.

PMID:
30343943
3.

TSFM mutations cause a complex hyperkinetic movement disorder with strong relief by cannabinoids.

Traschütz A, Hayer SN, Bender B, Schöls L, Biskup S, Synofzik M.

Parkinsonism Relat Disord. 2018 Sep 29. pii: S1353-8020(18)30427-9. doi: 10.1016/j.parkreldis.2018.09.031. [Epub ahead of print] No abstract available.

PMID:
30297209
4.

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.

Weisschuh N, Stingl K, Audo I, Biskup S, Bocquet B, Branham K, Burstedt MS, De Baere E, De Vries MJ, Golovleva I, Green A, Heckenlively J, Leroy BP, Meunier I, Traboulsi E, Wissinger B, Kohl S.

Hum Mutat. 2018 Oct;39(10):1366-1371. doi: 10.1002/humu.23606. Epub 2018 Aug 22.

PMID:
30080950
5.

Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.

Zobor D, Zobor G, Hipp S, Baumann B, Weisschuh N, Biskup S, Sliesoraityte I, Zrenner E, Kohl S.

Invest Ophthalmol Vis Sci. 2018 Jun 1;59(7):3041-3052. doi: 10.1167/iovs.18-24033.

PMID:
30025130
6.

McArdle's disease: A differential diagnosis of idiopathic toe walking.

Pomarino D, Martin S, Pomarino A, Morigeau S, Biskup S.

J Orthop. 2018 May 8;15(2):685-689. doi: 10.1016/j.jor.2018.05.024. eCollection 2018 Jun.

PMID:
29881221
7.

Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.

Wawrocka A, Skorczyk-Werner A, Wicher K, Niedziela Z, Ploski R, Rydzanicz M, Sykulski M, Kociecki J, Weisschuh N, Kohl S, Biskup S, Wissinger B, Krawczynski MR.

Mol Vis. 2018 Apr 26;24:326-339. eCollection 2018.

8.

Why is it necessary to examine retina when the patient suffers from aplastic anemia?

Tomcikova D, Gerinec A, Busanyova B, Gresikova M, Biskup S, Hortnagel K.

Bratisl Lek Listy. 2018;119(5):275-277. doi: 10.4149/BLL_2018_051.

PMID:
29749240
9.

De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.

Ambrosino P, Soldovieri MV, Bast T, Turnpenny PD, Uhrig S, Biskup S, Döcker M, Fleck T, Mosca I, Manocchio L, Iraci N, Taglialatela M, Lemke JR.

Ann Neurol. 2018 Jun;83(6):1198-1204. doi: 10.1002/ana.25248.

PMID:
29740868
10.

A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.

Rydning SL, Dudesek A, Rimmele F, Funke C, Krüger S, Biskup S, Vigeland MD, Hjorthaug HS, Sejersted Y, Tallaksen C, Selmer KK, Kamm C.

Eur J Neurol. 2018 Jul;25(7):943-e71. doi: 10.1111/ene.13625. Epub 2018 Apr 15.

PMID:
29528531
11.

Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report.

Hofstaetter C, Courage C, Bartholdi D, Biskup S, Raio L.

Clin Case Rep. 2018 Jan 17;6(2):420-425. doi: 10.1002/ccr3.1368. eCollection 2018 Feb.

12.

Immune monitoring and TCR sequencing of CD4 T cells in a long term responsive patient with metastasized pancreatic ductal carcinoma treated with individualized, neoepitope-derived multipeptide vaccines: a case report.

Sonntag K, Hashimoto H, Eyrich M, Menzel M, Schubach M, Döcker D, Battke F, Courage C, Lambertz H, Handgretinger R, Biskup S, Schilbach K.

J Transl Med. 2018 Feb 6;16(1):23. doi: 10.1186/s12967-018-1382-1.

13.

Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.

Catarino CB, Vollmar C, Küpper C, Seelos K, Gallenmüller C, Bartkiewicz J, Biskup S, Hörtnagel K, Klopstock T.

J Neurol. 2018 Feb;265(2):388-393. doi: 10.1007/s00415-017-8711-9. Epub 2017 Dec 19.

PMID:
29260356
14.

Two novel families with hemiplegic migraine caused by recurrent SCN1A mutation p.F1499L.

Schubert V, Auffenberg E, Biskup S, Jurkat-Rott K, Freilinger T.

Cephalalgia. 2018 Jul;38(8):1503-1508. doi: 10.1177/0333102417742365. Epub 2017 Nov 16.

PMID:
29145747
15.

Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes.

Wilke C, Baets J, De Bleecker JL, Deconinck T, Biskup S, Hayer SN, Züchner S, Schüle R, De Jonghe P, Synofzik M.

Neurobiol Aging. 2018 Feb;62:244.e9-244.e13. doi: 10.1016/j.neurobiolaging.2017.10.010. Epub 2017 Oct 24.

PMID:
29137817
16.

A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif.

Bock AS, Günther S, Mohr J, Goldberg LV, Jahic A, Klisch C, Hübner CA, Biskup S, Beetz C.

Hum Mutat. 2018 Feb;39(2):193-196. doi: 10.1002/humu.23369. Epub 2017 Nov 27.

PMID:
29124833
17.

A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45.

Hermann A, Kitzler HH, Pollack T, Biskup S, Krüger S, Funke C, Terrile C, Haack TB.

Tremor Other Hyperkinet Mov (N Y). 2017 Aug 8;7:465. doi: 10.7916/D8251WB0. eCollection 2017.

18.

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.

Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmüller J, Krause R, May P, Becker F; EuroEPINOMICS Consortium, Balling R, Biskup S, Haas SA, Nürnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E.

Brain. 2017 Nov 1;140(11):2879-2894. doi: 10.1093/brain/awx236.

PMID:
29053855
19.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

Syrbe S, Harms FL, Parrini E, Montomoli M, Mütze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke GC, Kuechler A, Lämmer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek NE, Møller RS, Koeleman B, Matsumoto N, Dobyns WB, Battaglia D, Lemke JR, Kutsche K, Guerrini R.

Brain. 2017 Sep 1;140(9):2322-2336. doi: 10.1093/brain/awx195.

PMID:
29050398
20.

Combined PET/MRI: Global Warming-Summary Report of the 6th International Workshop on PET/MRI, March 27-29, 2017, Tübingen, Germany.

Bailey DL, Pichler BJ, Gückel B, Antoch G, Barthel H, Bhujwalla ZM, Biskup S, Biswal S, Bitzer M, Boellaard R, Braren RF, Brendle C, Brindle K, Chiti A, la Fougère C, Gillies R, Goh V, Goyen M, Hacker M, Heukamp L, Knudsen GM, Krackhardt AM, Law I, Morris JC, Nikolaou K, Nuyts J, Ordonez AA, Pantel K, Quick HH, Riklund K, Sabri O, Sattler B, Troost EGC, Zaiss M, Zender L, Beyer T.

Mol Imaging Biol. 2018 Feb;20(1):4-20. doi: 10.1007/s11307-017-1123-5. Review.

Supplemental Content

Loading ...
Support Center