Schöls L - Search Results

1

Susceptibility-Weighted Imaging Reveals Subcortical Iron Deposition in PLA2G6-associated Neurodegeneration: The "Double Cortex Sign".

Roeben B, Zeltner L, Hagberg GE, Scheffler K, Schöls L, Bender B. Roeben B, et al. Among authors: schols l. Mov Disord. 2023 May;38(5):904-906. doi: 10.1002/mds.29364. Epub 2023 Feb 28. Mov Disord. 2023. PMID: 36853590 No abstract available.

2

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. Synofzik M, et al. Among authors: schols l. Orphanet J Rare Dis. 2013 Mar 15;8:41. doi: 10.1186/1750-1172-8-41. Orphanet J Rare Dis. 2013. PMID: 23497566 Free PMC article.

3

Leukodystrophies in idiopathic adult-onset ataxia: frequency and phenotype in 105 patients.

Müller Vom Hagen J, Synofzik M, Schicks J, Krägeloh-Mann I, Schöls L. Müller Vom Hagen J, et al. Among authors: schols l. Mov Disord. 2013 Dec;28(14):2033-5. doi: 10.1002/mds.25617. Epub 2013 Aug 7. Mov Disord. 2013. PMID: 23926051 No abstract available.

4

De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

Karle KN, Biskup S, Schüle R, Schweitzer KJ, Krüger R, Bauer P, Bender B, Nägele T, Schöls L. Karle KN, et al. Among authors: schols l. Neurology. 2013 Dec 3;81(23):2039-44. doi: 10.1212/01.wnl.0000436945.01023.ac. Epub 2013 Nov 6. Neurology. 2013. PMID: 24198292

5

Motor protein mutations cause a new form of hereditary spastic paraplegia.

Caballero Oteyza A, Battaloğlu E, Ocek L, Lindig T, Reichbauer J, Rebelo AP, Gonzalez MA, Zorlu Y, Ozes B, Timmann D, Bender B, Woehlke G, Züchner S, Schöls L, Schüle R. Caballero Oteyza A, et al. Among authors: schols l. Neurology. 2014 Jun 3;82(22):2007-16. doi: 10.1212/WNL.0000000000000479. Epub 2014 May 7. Neurology. 2014. PMID: 24808017 Free PMC article.

6

Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

Bender B, Klose U, Lindig T, Biskup S, Nägele T, Schöls L, Karle KN. Bender B, et al. Among authors: schols l. J Neurol. 2014 Dec;261(12):2351-9. doi: 10.1007/s00415-014-7509-2. Epub 2014 Sep 20. J Neurol. 2014. PMID: 25239393

7

Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations.

Lindig T, Bender B, Hauser TK, Mang S, Schweikardt D, Klose U, Karle KN, Schüle R, Schöls L, Rattay TW. Lindig T, et al. Among authors: schols l. J Neurol. 2015 Aug;262(8):1961-71. doi: 10.1007/s00415-015-7791-7. Epub 2015 Jun 9. J Neurol. 2015. PMID: 26050637

8

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.

Hayer SN, Deconinck T, Bender B, Smets K, Züchner S, Reich S, Schöls L, Schüle R, De Jonghe P, Baets J, Synofzik M. Hayer SN, et al. Among authors: schols l. Orphanet J Rare Dis. 2017 Feb 13;12(1):31. doi: 10.1186/s13023-017-0580-x. Orphanet J Rare Dis. 2017. PMID: 28193273 Free PMC article.

9

Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function.

Röeben B, Marquetand J, Bender B, Billing H, Haack TB, Sanchez-Albisua I, Schöls L, Blom HJ, Synofzik M. Röeben B, et al. Among authors: schols l. Orphanet J Rare Dis. 2017 Aug 1;12(1):135. doi: 10.1186/s13023-017-0687-0. Orphanet J Rare Dis. 2017. PMID: 28764801 Free PMC article.

10

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.

Roeben B, Schüle R, Ruf S, Bender B, Alhaddad B, Benkert T, Meitinger T, Reich S, Böhringer J, Langhans CD, Vaz FM, Wortmann SB, Marquardt T, Haack TB, Krägeloh-Mann I, Schöls L, Synofzik M. Roeben B, et al. Among authors: schols l. J Med Genet. 2018 Jan;55(1):39-47. doi: 10.1136/jmedgenet-2017-104622. Epub 2017 Sep 15. J Med Genet. 2018. PMID: 28916646

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