Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 192

1.

[Early diagnosis of a rare disease in children through better communication between parents, physicians and academic centers].

Kohlschütter A, van den Bussche H.

Z Evid Fortbild Qual Gesundhwes. 2019 May;141-142:18-23. doi: 10.1016/j.zefq.2019.02.008. Epub 2019 Mar 14. German.

2.

Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses.

Kohlschütter A, Schulz A, Bartsch U, Storch S.

CNS Drugs. 2019 Apr;33(4):315-325. doi: 10.1007/s40263-019-00620-8.

3.

Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease.

Lukacs Z, Nickel M, Murko S, Nieves Cobos P, Schulz A, Santer R, Kohlschütter A.

Clin Chim Acta. 2019 May;492:69-71. doi: 10.1016/j.cca.2019.02.010. Epub 2019 Feb 13.

PMID:
30771299
4.

Autophagic vacuolar myopathy is a common feature of CLN3 disease.

Radke J, Koll R, Gill E, Wiese L, Schulz A, Kohlschütter A, Schuelke M, Hagel C, Stenzel W, Goebel HH.

Ann Clin Transl Neurol. 2018 Oct 14;5(11):1385-1393. doi: 10.1002/acn3.662. eCollection 2018 Nov.

5.

Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study.

Nickel M, Simonati A, Jacoby D, Lezius S, Kilian D, Van de Graaf B, Pagovich OE, Kosofsky B, Yohay K, Downs M, Slasor P, Ajayi T, Crystal RG, Kohlschütter A, Sondhi D, Schulz A.

Lancet Child Adolesc Health. 2018 Aug;2(8):582-590. doi: 10.1016/S2352-4642(18)30179-2. Epub 2018 Jul 2. Erratum in: Lancet Child Adolesc Health. 2018 Sep;2(9):e24.

PMID:
30119717
6.

Study of Intraventricular Cerliponase Alfa for CLN2 Disease.

Schulz A, Ajayi T, Specchio N, de Los Reyes E, Gissen P, Ballon D, Dyke JP, Cahan H, Slasor P, Jacoby D, Kohlschütter A; CLN2 Study Group.

N Engl J Med. 2018 May 17;378(20):1898-1907. doi: 10.1056/NEJMoa1712649. Epub 2018 Apr 24.

7.

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.

Simons C, Dyment D, Bent SJ, Crawford J, D'Hooghe M, Kohlschütter A, Venkateswaran S, Helman G, Poll-The BT, Makowski CC, Ito Y, Kernohan K, Hartley T, Waisfisz Q, Taft RJ; Care4Rare Consortium, van der Knaap MS, Wolf NI.

Brain. 2017 Dec 1;140(12):3105-3111. doi: 10.1093/brain/awx314.

8.

CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis).

Kohlschütter A, Schulz A.

Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:682-8. Review.

PMID:
27491216
9.

Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients.

Groeschel S, Kühl JS, Bley AE, Kehrer C, Weschke B, Döring M, Böhringer J, Schrum J, Santer R, Kohlschütter A, Krägeloh-Mann I, Müller I.

JAMA Neurol. 2016 Sep 1;73(9):1133-40. doi: 10.1001/jamaneurol.2016.2067.

PMID:
27400410
10.

Metachromatic Leukodystrophy: An Assessment of Disease Burden.

Eichler FS, Cox TM, Crombez E, Dali CÍ, Kohlschütter A.

J Child Neurol. 2016 Nov;31(13):1457-1463. Epub 2016 Jul 7.

PMID:
27389394
11.

Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression.

Löbel U, Sedlacik J, Nickel M, Lezius S, Fiehler J, Nestrasil I, Kohlschütter A, Schulz A.

AJNR Am J Neuroradiol. 2016 Oct;37(10):1938-1943. doi: 10.3174/ajnr.A4816. Epub 2016 May 26.

12.

Novel morphological macular findings in juvenile CLN3 disease.

Dulz S, Wagenfeld L, Nickel M, Richard G, Schwartz R, Bartsch U, Kohlschütter A, Schulz A.

Br J Ophthalmol. 2016 Jun;100(6):824-8. doi: 10.1136/bjophthalmol-2015-307320. Epub 2015 Oct 20.

PMID:
26486417
13.

Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene.

Köhler C, Heyer C, Hoffjan S, Stemmler S, Lücke T, Thiels C, Kohlschütter A, Löbel U, Horvath R, Kleinle S, Benet-Pages A, Abicht A.

Mol Cell Probes. 2015 Oct;29(5):319-22. doi: 10.1016/j.mcp.2015.06.005. Epub 2015 Aug 29.

PMID:
26327357
14.

Reprint of "Ethical issues with artificial nutrition of children with degenerative brain diseases".

Kohlschütter A, Riga C, Crespo D, Torres JM, Penchaszadeh V, Schulz A.

Biochim Biophys Acta. 2015 Oct;1852(10 Pt B):2312-5. doi: 10.1016/j.bbadis.2015.03.016. Epub 2015 Jun 11.

15.

Ethical issues with artificial nutrition of children with degenerative brain diseases.

Kohlschütter A, Riga C, Crespo D, Torres JM, Penchaszadeh V, Schulz A.

Biochim Biophys Acta. 2015 Jul;1852(7):1253-6. doi: 10.1016/j.bbadis.2015.03.007. Epub 2015 Mar 17.

16.

Brain iron quantification by MRI in mitochondrial membrane protein-associated neurodegeneration under iron-chelating therapy.

Löbel U, Schweser F, Nickel M, Deistung A, Grosse R, Hagel C, Fiehler J, Schulz A, Hartig M, Reichenbach JR, Kohlschütter A, Sedlacik J.

Ann Clin Transl Neurol. 2014 Dec;1(12):1041-6. doi: 10.1002/acn3.116. Epub 2014 Dec 2.

17.

Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations.

Bergholz R, Kohlschütter A, Schulz A, Hubert W, Rüther K.

Graefes Arch Clin Exp Ophthalmol. 2015 Aug;253(8):1245-50. doi: 10.1007/s00417-014-2814-0. Epub 2014 Oct 22.

PMID:
25338278
18.

Hypomyelinating leukodystrophies: translational research progress and prospects.

Pouwels PJ, Vanderver A, Bernard G, Wolf NI, Dreha-Kulczewksi SF, Deoni SC, Bertini E, Kohlschütter A, Richardson W, Ffrench-Constant C, Köhler W, Rowitch D, Barkovich AJ.

Ann Neurol. 2014 Jul;76(1):5-19. doi: 10.1002/ana.24194. Epub 2014 Jun 24. Review.

19.

Unexplained loss of vision in a child: consider bilateral primary optic nerve sheath meningioma.

Nickel M, Löbel U, Holst B, Kammler G, Matschke J, Schulz A, Kohlschütter A.

Neuropediatrics. 2014 Oct;45(5):321-4. doi: 10.1055/s-0034-1372303. Epub 2014 Apr 3.

PMID:
24700154
20.

Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort.

Kehrer C, Groeschel S, Kustermann-Kuhn B, Bürger F, Köhler W, Kohlschütter A, Bley A, Steinfeld R, Gieselmann V, Krägeloh-Mann I; German LEUKONET.

Orphanet J Rare Dis. 2014 Feb 5;9:18. doi: 10.1186/1750-1172-9-18.

Supplemental Content

Loading ...
Support Center