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Items: 11

1.

Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C.

Gburek-Augustat J, Groeschel S, Kern J, Beck-Woedl S, Just J, Harzer K, Stampfer M, Kraegeloh-Mann I.

Neuropediatrics. 2019 Oct 22. doi: 10.1055/s-0039-1698451. [Epub ahead of print]

PMID:
31639880
2.

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.

Synofzik M, Helbig KL, Harmuth F, Deconinck T, Tanpaiboon P, Sun B, Guo W, Wang R, Palmaer E, Tang S, Schaefer GB, Gburek-Augustat J, Züchner S, Krägeloh-Mann I, Baets J, de Jonghe P, Bauer P, Chen SRW, Schöls L, Schüle R.

Eur J Hum Genet. 2018 Nov;26(11):1623-1634. doi: 10.1038/s41431-018-0206-3. Epub 2018 Jun 20.

3.

Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome.

Gburek-Augustat J, Beck-Woedl S, Tzschach A, Bauer P, Schoening M, Riess A.

Eur J Paediatr Neurol. 2016 Jul;20(4):661-5. doi: 10.1016/j.ejpn.2016.04.005. Epub 2016 Apr 28.

PMID:
27184330
4.

[Lysosomal storage diseases].

Schulze M, Groeschel S, Gburek-Augustat J, Nägele T, Horger M.

Rofo. 2015 Dec;187(12):1057-60. doi: 10.1055/s-0035-1552368. Epub 2015 Nov 26. German. No abstract available.

PMID:
26609772
5.

Intravenous levetiracetam in clinical practice--Results from an independent registry.

Lang N, Esser W, Evers S, Kellinghaus C, Nguento A, Schlegel U, Gaida B, Gburek-Augustat J, Altenmüller DM, Burghaus L, Hoffmann F, Fiedler B, Bast T, Rehfeld T, Happe S, Seitz RJ, Boor R, Stephani U.

Seizure. 2015 Jul;29:109-13. doi: 10.1016/j.seizure.2015.03.018. Epub 2015 Apr 13.

6.

Oligoclonal bands predict multiple sclerosis in children with optic neuritis.

Heussinger N, Kontopantelis E, Gburek-Augustat J, Jenke A, Vollrath G, Korinthenberg R, Hofstetter P, Meyer S, Brecht I, Kornek B, Herkenrath P, Schimmel M, Wenner K, Häusler M, Lutz S, Karenfort M, Blaschek A, Smitka M, Karch S, Piepkorn M, Rostasy K, Lücke T, Weber P, Trollmann R, Klepper J, Häussler M, Hofmann R, Weissert R, Merkenschlager A, Buttmann M; for GRACE-MS (German-speaking Research Alliance for ChildrEn with Multiple Sclerosis).

Ann Neurol. 2015 Jun;77(6):1076-82. doi: 10.1002/ana.24409. Epub 2015 May 11.

PMID:
25820181
7.

Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.

Synofzik M, Schüle R, Schulze M, Gburek-Augustat J, Schweizer R, Schirmacher A, Krägeloh-Mann I, Gonzalez M, Young P, Züchner S, Schöls L, Bauer P.

Orphanet J Rare Dis. 2014 Apr 17;9:57. doi: 10.1186/1750-1172-9-57.

8.

Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth.

Synofzik M, Bernard G, Lindig T, Gburek-Augustat J.

Neurology. 2013 Nov 5;81(19):e145. doi: 10.1212/01.wnl.0000435300.64776.7e.

9.

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.

Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Schüle R, Haack TB, Schöning M, Biskup S, Rudnik-Schöneborn S, Senderek J, Hoffmann KT, MacLeod P, Schwarz J, Bender B, Krüger S, Kreuz F, Bauer P, Schöls L.

Orphanet J Rare Dis. 2013 Mar 15;8:41. doi: 10.1186/1750-1172-8-41.

10.

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.

Daoud H, Tétreault M, Gibson W, Guerrero K, Cohen A, Gburek-Augustat J, Synofzik M, Brais B, Stevens CA, Sanchez-Carpintero R, Goizet C, Naidu S, Vanderver A, Bernard G.

J Med Genet. 2013 Mar;50(3):194-7. doi: 10.1136/jmedgenet-2012-101357. Epub 2013 Jan 25.

PMID:
23355746
11.

Hemihyperplasia and discordant bone age in a patient with trisomy 8 mosaicism.

Voigt R, Gburek-Augustat J, Seidel A, Gillessen-Kaesbach G.

Am J Med Genet A. 2008 Jan 1;146A(1):132-5. No abstract available.

PMID:
18074372

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