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Items: 37

1.

Consensus clinical management guidelines for Niemann-Pick disease type C.

Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M; International Niemann-Pick Disease Registry (INPDR).

Orphanet J Rare Dis. 2018 Apr 6;13(1):50. doi: 10.1186/s13023-018-0785-7. Review.

2.

Systematic review of psychiatric signs in Niemann-Pick disease type C.

Bonnot O, Klünemann HH, Velten C, Torres Martin JV, Walterfang M.

World J Biol Psychiatry. 2018 Mar 12:1-13. doi: 10.1080/15622975.2018.1441548. [Epub ahead of print]

PMID:
29457916
3.

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.

Patterson MC, Clayton P, Gissen P, Anheim M, Bauer P, Bonnot O, Dardis A, Dionisi-Vici C, Klünemann HH, Latour P, Lourenço CM, Ory DS, Parker A, Pocoví M, Strupp M, Vanier MT, Walterfang M, Marquardt T.

Neurol Clin Pract. 2017 Dec;7(6):499-511. doi: 10.1212/CPJ.0000000000000399. Review.

4.

The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.

Hendriksz CJ, Anheim M, Bauer P, Bonnot O, Chakrapani A, Corvol JC, de Koning TJ, Degtyareva A, Dionisi-Vici C, Doss S, Duning T, Giunti P, Iodice R, Johnston T, Kelly D, Klünemann HH, Lorenzl S, Padovani A, Pocovi M, Synofzik M, Terblanche A, Then Bergh F, Topçu M, Tranchant C, Walterfang M, Velten C, Kolb SA.

Curr Med Res Opin. 2017 May;33(5):877-890. doi: 10.1080/03007995.2017.1294054. Epub 2017 Mar 2. Review.

PMID:
28276873
5.

Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review.

Bonnot O, Klünemann HH, Sedel F, Tordjman S, Cohen D, Walterfang M.

Orphanet J Rare Dis. 2014 Apr 28;9:65. doi: 10.1186/1750-1172-9-65. Review.

6.

Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.

Zech M, Nübling G, Castrop F, Jochim A, Schulte EC, Mollenhauer B, Lichtner P, Peters A, Gieger C, Marquardt T, Vanier MT, Latour P, Klünemann H, Trenkwalder C, Diehl-Schmid J, Perneczky R, Meitinger T, Oexle K, Haslinger B, Lorenzl S, Winkelmann J.

PLoS One. 2013 Dec 30;8(12):e82879. doi: 10.1371/journal.pone.0082879. eCollection 2013.

7.

Rare variants in LRRK1 and Parkinson's disease.

Schulte EC, Ellwanger DC, Dihanich S, Manzoni C, Stangl K, Schormair B, Graf E, Eck S, Mollenhauer B, Haubenberger D, Pirker W, Zimprich A, Brücke T, Lichtner P, Peters A, Gieger C, Trenkwalder C, Mewes HW, Meitinger T, Lewis PA, Klünemann HH, Winkelmann J.

Neurogenetics. 2014 Mar;15(1):49-57. doi: 10.1007/s10048-013-0383-8. Epub 2013 Nov 16.

8.

Niemann-Pick disease type C symptomatology: an expert-based clinical description.

Mengel E, Klünemann HH, Lourenço CM, Hendriksz CJ, Sedel F, Walterfang M, Kolb SA.

Orphanet J Rare Dis. 2013 Oct 17;8:166. doi: 10.1186/1750-1172-8-166. Review.

9.

Neural correlates of saccadic inhibition in healthy elderly and patients with amnestic mild cognitive impairment.

Alichniewicz KK, Brunner F, Klünemann HH, Greenlee MW.

Front Psychol. 2013 Jul 24;4:467. doi: 10.3389/fpsyg.2013.00467. eCollection 2013.

10.

A large ApoE ε4/ε4 homozygous cohort reveals no association with Parkinson's disease.

Multhammer M, Michels A, Zintl M, Mendoza MC, Klünemann HH.

Acta Neurol Belg. 2014 Mar;114(1):25-31. doi: 10.1007/s13760-013-0223-5. Epub 2013 Jun 21.

PMID:
23794363
11.

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.

Bauer P, Balding DJ, Klünemann HH, Linden DE, Ory DS, Pineda M, Priller J, Sedel F, Muller A, Chadha-Boreham H, Welford RW, Strasser DS, Patterson MC.

Hum Mol Genet. 2013 Nov 1;22(21):4349-56. doi: 10.1093/hmg/ddt284. Epub 2013 Jun 16.

12.

Implementation of a cost-effective HPLC/UV approach for routine medical quantification of memantine in human serum.

Haen E, Koeber R, Klünemann HH, Waimer R, Köstlbacher A, Wittmann M, Brandl R, Dörfelt A, Jahner T, Melchner D.

Ther Drug Monit. 2012 Dec;34(6):702-12. doi: 10.1097/FTD.0b013e31826933ab.

PMID:
23007745
13.

Gas chromatography-tandem mass spectrometry method for the simultaneous determination of oxysterols, plant sterols, and cholesterol precursors.

Matysik S, Klünemann HH, Schmitz G.

Clin Chem. 2012 Nov;58(11):1557-64. doi: 10.1373/clinchem.2012.189605. Epub 2012 Sep 20.

14.

Treatable metabolic psychoses that go undetected: what Niemann-Pick type C can teach us.

Klünemann HH, Santosh PJ, Sedel F.

Int J Psychiatry Clin Pract. 2012 Sep;16(3):162-9. doi: 10.3109/13651501.2012.687451. Epub 2012 Jul 3. Review.

PMID:
22746831
15.

Structural and functional neural correlates of visuospatial information processing in normal aging and amnestic mild cognitive impairment.

Alichniewicz KK, Brunner F, Klünemann HH, Greenlee MW.

Neurobiol Aging. 2012 Dec;33(12):2782-97. doi: 10.1016/j.neurobiolaging.2012.02.010. Epub 2012 Mar 17.

PMID:
22429887
16.

Association of apolipoprotein E ε4 (ApoE ε4) homozygosity with psychiatric behavioral symptoms.

Michels A, Multhammer M, Zintl M, Mendoza MC, Klünemann HH.

J Alzheimers Dis. 2012;28(1):25-32. doi: 10.3233/JAD-2011-110554.

PMID:
22246233
17.

Amyloid-β contributes to blood-brain barrier leakage in transgenic human amyloid precursor protein mice and in humans with cerebral amyloid angiopathy.

Hartz AM, Bauer B, Soldner EL, Wolf A, Boy S, Backhaus R, Mihaljevic I, Bogdahn U, Klünemann HH, Schuierer G, Schlachetzki F.

Stroke. 2012 Feb;43(2):514-23. doi: 10.1161/STROKEAHA.111.627562. Epub 2011 Nov 23.

18.

Sustained effects of once-daily memantine treatment on cognition and functional communication skills in patients with moderate to severe Alzheimer's disease: results of a 16-week open-label trial.

Schulz JB, Rainer M, Klünemann HH, Kurz A, Wolf S, Sternberg K, Tennigkeit F.

J Alzheimers Dis. 2011;25(3):463-75. doi: 10.3233/JAD-2011-101929.

PMID:
21471647
19.

A visual [18F]FDG-PET rating scale for the differential diagnosis of frontotemporal lobar degeneration.

Poljansky S, Ibach B, Hirschberger B, Männer P, Klünemann H, Hajak G, Marienhagen J.

Eur Arch Psychiatry Clin Neurosci. 2011 Sep;261(6):433-46. doi: 10.1007/s00406-010-0184-0. Epub 2011 Jan 5.

PMID:
21207049
20.

Differential impact of ApoE ε4 on cortical activation during famous face recognition in cognitively intact individuals and patients with amnestic mild cognitive impairment.

Frank G, Hennig-Fast K, Klünemann HH, Schmitz G, Greenlee MW.

Alzheimer Dis Assoc Disord. 2011 Jul-Sep;25(3):250-61. doi: 10.1097/WAD.0b013e3182061636.

PMID:
21192235
21.

[Alzheimer-Perusini disease: the 100th anniversary of Gaetano Perusini's publication].

Braun B, Stadlober-Degwerth M, Klünemann HH.

Nervenarzt. 2011 Mar;82(3):363-6, 368-9. doi: 10.1007/s00115-010-2984-x. German.

PMID:
20571749
22.

100th anniversary of Perusini's second case: patient RM and his kindred.

Braun B, Stadlober-Degwerth M, Hajak G, Klünemann HH.

Am J Alzheimers Dis Other Demen. 2010 May;25(3):189-92. doi: 10.1177/1533317509356689. Epub 2010 Apr 14.

PMID:
20392861
23.

[Frontotemporal dementia in association with a family history of dementia and ApoE polymorphism].

Zintl M, Petkov M, Schmitz G, Hajak G, Klünemann HH.

Nervenarzt. 2010 Jan;81(1):75-8. doi: 10.1007/s00115-009-2822-1. German.

PMID:
19629426
24.

ApoE genotype and family history in patients with dementia and cognitively intact spousal controls.

Zintl M, Schmitz G, Hajak G, Klünemann HH.

Am J Alzheimers Dis Other Demen. 2009 Aug-Sep;24(4):349-52. doi: 10.1177/1533317509333040. Epub 2009 Apr 16.

PMID:
19372276
25.

Monocyte cholesterol homeostasis correlates with the presence of detergent resistant membrane microdomains.

Wolf Z, Orsó E, Werner T, Klünemann HH, Schmitz G.

Cytometry A. 2007 Jul;71(7):486-94.

26.

Neuropsychological profile of adult patients with Niemann-Pick C1 (NPC1) mutations.

Klarner B, Klünemann HH, Lürding R, Aslanidis C, Rupprecht R.

J Inherit Metab Dis. 2007 Feb;30(1):60-7. Epub 2006 Dec 11.

PMID:
17160616
27.

Characterization of the kindred of Alois Alzheimer's patient with plaque-only dementia.

Klünemann HH, Fronhöfer W, Werner-Füchtenbusch D, Grasbon-Frodl E, Kloiber S, Wurster HW, St George-Hyslop PH, Rogaeva E.

Alzheimer Dis Assoc Disord. 2006 Oct-Dec;20(4):291-4.

PMID:
17132975
28.

The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2.

Klünemann HH, Ridha BH, Magy L, Wherrett JR, Hemelsoet DM, Keen RW, De Bleecker JL, Rossor MN, Marienhagen J, Klein HE, Peltonen L, Paloneva J.

Neurology. 2005 May 10;64(9):1502-7.

PMID:
15883308
29.

Novel PS1 mutation in a Bavarian kindred with familial Alzheimer disease.

Klünemann HH, Rogaeva E, Neumann M, Kretzschmar HA, Kandel M, Toulina A, Sato C, Salehi-Rad S, Pfister K, Klein HE, St George-Hyslop PH.

Alzheimer Dis Assoc Disord. 2004 Oct-Dec;18(4):256-8.

PMID:
15592140
30.

[Familial plaque-only Alzheimer's disease in the Rottal-Inn and Passau counties].

Klünemann HH, Kloiber S, Wurster HW, Klein HE.

Psychiatr Prax. 2004 Nov;31 Suppl 1:S61-3. German.

PMID:
15570504
31.

Niemann-Pick disease type C yields possible clue for why cerebellar neurons do not form neurofibrillary tangles.

Bu B, Klunemann H, Suzuki K, Li J, Bird T, Jin LW, Vincent I.

Neurobiol Dis. 2002 Nov;11(2):285-97.

PMID:
12505421
32.

Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2.

Klünemann HH, Elleder M, Kaminski WE, Snow K, Peyser JM, O'Brien JF, Munoz D, Schmitz G, Klein HE, Pendlebury WW.

Ann Neurol. 2002 Dec;52(6):743-9.

PMID:
12447927
33.

Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease.

Kaminski WE, Klünemann HH, Ibach B, Aslanidis C, Klein HE, Schmitz G.

J Inherit Metab Dis. 2002 Sep;25(5):385-9.

PMID:
12408188
34.

Alzheimer's second patient: Johann F. and his family.

Klünemann HH, Fronhöfer W, Wurster H, Fischer W, Ibach B, Klein HE.

Ann Neurol. 2002 Oct;52(4):520-3.

PMID:
12325085
35.

[Presenile dementia in polycystic lipomembranous osteodysplasia].

Schäfer C, Klünemann HH, Ibach B, Mueller J, Putzhammer A, Trender-Gerhard I, Schuierer G, Klein HE.

Nervenarzt. 2002 Sep;73(9):879-82. German.

PMID:
12215881
36.

Case of the month: a newborn with tight skin and joint contractures.

Das-Kundu S, Klünemann HH, Mieth D, Spycher M, Stallmach T, Schinzel A.

Eur J Pediatr. 1996 Nov;155(11):987-9. No abstract available.

PMID:
8911903
37.

[Fatal generalized AA amyloidosis in mutilating psoriatic arthropathy].

Klünemann H, Schneider J, Linke RP, Stey C, Schröder S.

Pathologe. 1994 Dec;15(6):366-71. German.

PMID:
7855108

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