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Items: 1 to 50 of 260

1.

Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL).

Paloneva J, Autti T, Hakola P, Haltia MJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2002 Jan 24 [updated 2015 Mar 12].

2.

Hereditary gelsolin amyloidosis.

Kiuru-Enari S, Haltia M.

Handb Clin Neurol. 2013;115:659-81. doi: 10.1016/B978-0-444-52902-2.00039-4. Review.

PMID:
23931809
3.

The neuronal ceroid-lipofuscinoses: a historical introduction.

Haltia M, Goebel HH.

Biochim Biophys Acta. 2013 Nov;1832(11):1795-800. doi: 10.1016/j.bbadis.2012.08.012. Epub 2012 Aug 29.

4.

[Hereditary gelsolin amyloidosis--40 years of Meretoja disease].

Kiuru-Enari S, Haltia M.

Duodecim. 2010;126(10):1162-71. Review. Finnish.

PMID:
20597346
5.

Johan Haartman, "Suomen lääketieteen isä".

Haltia M, Vaheri A.

Duodecim. 2006;122(23):2919-28. Finnish. No abstract available.

PMID:
17438743
6.

The neuronal ceroid-lipofuscinoses: from past to present.

Haltia M.

Biochim Biophys Acta. 2006 Oct;1762(10):850-6. Epub 2006 Jul 8. Review.

7.

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.

Siintola E, Partanen S, Strömme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki AE, Tyynelä J.

Brain. 2006 Jun;129(Pt 6):1438-45. Epub 2006 May 2.

PMID:
16670177
8.

Incidence of dementia in very elderly individuals: a clinical, neuropathological and molecular genetic study.

Polvikoski T, Sulkava R, Rastas S, Sutela A, Niinistö L, Notkola IL, Verkkoniemi A, Viramo P, Juva K, Haltia M.

Neuroepidemiology. 2006;26(2):76-82. Epub 2005 Dec 13.

PMID:
16352910
9.

Chromosome 21 BACE2 haplotype associates with Alzheimer's disease: a two-stage study.

Myllykangas L, Wavrant-De Vrièze F, Polvikoski T, Notkola IL, Sulkava R, Niinistö L, Edland SD, Arepalli S, Adighibe O, Compton D, Hardy J, Haltia M, Tienari PJ.

J Neurol Sci. 2005 Sep 15;236(1-2):17-24.

PMID:
16023140
10.

Cathepsin D-deficient Drosophila recapitulate the key features of neuronal ceroid lipofuscinoses.

Myllykangas L, Tyynelä J, Page-McCaw A, Rubin GM, Haltia MJ, Feany MB.

Neurobiol Dis. 2005 Jun-Jul;19(1-2):194-9.

PMID:
15837574
11.

Cutis laxa in hereditary gelsolin amyloidosis.

Kiuru-Enari S, Keski-Oja J, Haltia M.

Br J Dermatol. 2005 Feb;152(2):250-7.

PMID:
15727635
12.
13.

Pirkko Santavuori (1933-2004).

Tyynelä J, Autti T, Haltia M, Mole SE.

J Child Neurol. 2004 Jun;19(6):465-70. No abstract available.

PMID:
15446399
14.

High-resolution magic angle spinning and 1H magnetic resonance spectroscopy reveal significantly altered neuronal metabolite profiles in CLN1 but not in CLN3.

Sitter B, Autti T, Tyynelä J, Sonnewald U, Bathen TF, Puranen J, Santavuori P, Haltia MJ, Paetau A, Polvikoski T, Gribbestad IS, Häkkinen AM.

J Neurosci Res. 2004 Sep 1;77(5):762-9.

PMID:
15352223
15.

Neuropsychological functions in variant Alzheimer's disease with spastic paraparesis.

Verkkoniemi A, Ylikoski R, Rinne JO, Somer M, Hietaharju A, Erkinjuntti T, Viitanen M, Kalimo H, Haltia M.

J Neurol Sci. 2004 Mar 15;218(1-2):29-37.

PMID:
14759630
16.

The normal population distribution of PRNP codon 129 polymorphism.

Nurmi MH, Bishop M, Strain L, Brett F, McGuigan C, Hutchison M, Farrell M, Tilvis R, Erkkilä S, Simell O, Knight R, Haltia M.

Acta Neurol Scand. 2003 Nov;108(5):374-8.

PMID:
14616310
17.

DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features.

Paloneva J, Mandelin J, Kiialainen A, Bohling T, Prudlo J, Hakola P, Haltia M, Konttinen YT, Peltonen L.

J Exp Med. 2003 Aug 18;198(4):669-75.

18.

Global democratic consensus on neuropathological disease criteria.

Achim C, Auer R, Bergeron C, Cardozo A, Deprez M, de Vos R, Duyckaerts C, Egensperger R, Esiri M, Frosch MP, Giannini C, Goebel HH, Graeber MB, Graham DI, Gray F, Haltia M, Hashizume Y, Ikeda K, Ironside JW, Kreutzberg GW, Lantos P, Lowe J, Ludwin S, Matsumoto Y, Olsson Y, Sasaki A, Scheithauer BW, Takahashi H, Tolnay M, Trojanowski JQ, Troost D, de F Webster H.

Lancet Neurol. 2002 Oct;1(6):340. No abstract available.

19.

The neuronal ceroid-lipofuscinoses.

Haltia M.

J Neuropathol Exp Neurol. 2003 Jan;62(1):1-13. Review.

PMID:
12528813
20.

[Finnish hereditary neurological diseases as focus of the research].

Haltia M.

Duodecim. 2002;118(22):2279-88. Review. Finnish. No abstract available.

PMID:
12523104
21.

Status epilepticus induces changes in the expression and localization of endogenous palmitoyl-protein thioesterase 1.

Suopanki J, Lintunen M, Lahtinen H, Haltia M, Panula P, Baumann M, Tyynelä J.

Neurobiol Dis. 2002 Aug;10(3):247-57.

PMID:
12270687
22.

[Northern epilepsy and the gene error behind it].

Ranta S, Hirvasniemi A, Herva R, Haltia M, Lehesjoki AE.

Duodecim. 2002;118(15):1551-8. Review. Finnish. No abstract available.

PMID:
12244629
23.

[Year 2001 Matti Ayrapää award to Riitta Hari].

Haltia M, Mäkelä JP.

Duodecim. 2001;117(7):677-9. Finnish. No abstract available.

PMID:
12116783
24.

Contribution of APOE promoter polymorphisms to Alzheimer's disease risk.

Lambert JC, Araria-Goumidi L, Myllykangas L, Ellis C, Wang JC, Bullido MJ, Harris JM, Artiga MJ, Hernandez D, Kwon JM, Frigard B, Petersen RC, Cumming AM, Pasquier F, Sastre I, Tienari PJ, Frank A, Sulkava R, Morris JC, St Clair D, Mann DM, Wavrant-DeVrièze F, Ezquerra-Trabalon M, Amouyel P, Hardy J, Haltia M, Valdivieso F, Goate AM, Pérez-Tur J, Lendon CL, Chartier-Harlin MC.

Neurology. 2002 Jul 9;59(1):59-66.

PMID:
12105308
25.

Neuromuscular pathology in hereditary gelsolin amyloidosis.

Kiuru-Enari S, Somer H, Seppäläinen AM, Notkola IL, Haltia M.

J Neuropathol Exp Neurol. 2002 Jun;61(6):565-71.

PMID:
12071640
26.

ApoE epsilon3-haplotype modulates Alzheimer beta-amyloid deposition in the brain.

Myllykangas L, Polvikoski T, Reunanen K, Wavrant-De Vrieze F, Ellis C, Hernandez D, Sulkava R, Kontula K, Verkkoniemi A, Notkola IL, Hardy J, Perez-Tur J, Haltia MJ, Tienari PJ.

Am J Med Genet. 2002 Apr 8;114(3):288-91.

PMID:
11920850
27.

[Views of the pathogenesis in Alzheimer's disease are changing].

Baumann M, Tienari P, Haltia M.

Duodecim. 1999;115(7):767-76. Review. Finnish. No abstract available.

PMID:
11859510
28.

[New variant of Alzheimer's disease].

Verkkoniemi A, Somer M, Haltia M.

Duodecim. 1998;114(24):2509-11. Finnish. No abstract available.

PMID:
11757118
29.

Association of lipoprotein lipase Ser447Ter polymorphism with brain infarction: a population-based neuropathological study.

Myllykangas L, Polvikoski T, Sulkava R, Notkola IL, Rastas S, Verkkoniemi A, Tienari PJ, Niinistö L, Hardy J, Pérez-Tur J, Kontula K, Haltia M.

Ann Med. 2001 Oct;33(7):486-92.

PMID:
11680797
30.

Congenital ovine neuronal ceroid lipofuscinosis--a cathepsin D deficiency with increased levels of the inactive enzyme.

Tyynelä J, Sohar I, Sleat DE, Gin RM, Donnelly RJ, Baumann M, Haltia M, Lobel P.

Eur J Paediatr Neurol. 2001;5 Suppl A:43-5.

PMID:
11589006
31.

Hippocampal lesions in the neuronal ceroid lipofuscinoses.

Haltia M, Herva R, Suopanki J, Baumann M, Tyynelä J.

Eur J Paediatr Neurol. 2001;5 Suppl A:209-11.

PMID:
11588999
32.

[Lewy body dementia].

Oinas M, Polvikoski T, Sulkava R, Paetau A, Haltia M.

Duodecim. 1998;114(15):1476-83. Finnish. No abstract available.

PMID:
11552235
34.

Cases of Alzheimer's disease due to deletion of exon 9 of the presenilin-1 gene show an unusual but characteristic beta-amyloid pathology known as 'cotton wool' plaques.

Mann DM, Takeuchi A, Sato S, Cairns NJ, Lantos PL, Rossor MN, Haltia M, Kalimo H, Iwatsubo T.

Neuropathol Appl Neurobiol. 2001 Jun;27(3):189-96.

PMID:
11489138
35.

Prevalence of Alzheimer's disease in very elderly people: a prospective neuropathological study.

Polvikoski T, Sulkava R, Myllykangas L, Notkola IL, Niinistö L, Verkkoniemi A, Kainulainen K, Kontula K, Pérez-Tur J, Hardy J, Haltia M.

Neurology. 2001 Jun 26;56(12):1690-6.

PMID:
11425935
36.

CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts.

Paloneva J, Autti T, Raininko R, Partanen J, Salonen O, Puranen M, Hakola P, Haltia M.

Neurology. 2001 Jun 12;56(11):1552-8.

PMID:
11402114
37.

Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype.

Verkkoniemi A, Kalimo H, Paetau A, Somer M, Iwatsubo T, Hardy J, Haltia M.

J Neuropathol Exp Neurol. 2001 May;60(5):483-92.

PMID:
11379823
38.

Studies of homogenous populations: CLN5 and CLN8.

Ranta S, Savukoski M, Santavuori P, Haltia M.

Adv Genet. 2001;45:123-40. Review.

PMID:
11332769
39.

Human prion diseases.

Haltia M.

Ann Med. 2000 Oct;32(7):493-500. Review.

PMID:
11087170
40.

Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations.

Houlden H, Baker M, McGowan E, Lewis P, Hutton M, Crook R, Wood NW, Kumar-Singh S, Geddes J, Swash M, Scaravilli F, Holton JL, Lashley T, Tomita T, Hashimoto T, Verkkoniemi A, Kalimo H, Somer M, Paetau A, Martin JJ, Van Broeckhoven C, Golde T, Hardy J, Haltia M, Revesz T.

Ann Neurol. 2000 Nov;48(5):806-8.

PMID:
11079548
41.

Cardiovascular risk factors and Alzheimer's disease: a genetic association study in a population aged 85 or over.

Myllykangas L, Polvikoski T, Sulkava R, Verkkoniemi A, Tienari P, Niinistö L, Kontula K, Hardy J, Haltia M, Pérez-Tur J.

Neurosci Lett. 2000 Oct 13;292(3):195-8.

PMID:
11018310
42.

[Cerebral amyloid angiopathy--an underdiagnosed cause for cerebral hemorrhages].

Cederqvist K, Paetau A, Haltia M.

Duodecim. 1998;114(2):134-41. Review. Finnish. No abstract available.

PMID:
10895479
43.

Apolipoprotein E includes a binding site which is recognized by several amyloidogenic polypeptides.

Baumann MH, Kallijärvi J, Lankinen H, Soto C, Haltia M.

Biochem J. 2000 Jul 1;349(Pt 1):77-84.

44.

A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration.

Tyynelä J, Sohar I, Sleat DE, Gin RM, Donnelly RJ, Baumann M, Haltia M, Lobel P.

EMBO J. 2000 Jun 15;19(12):2786-92.

45.

No association between TAU haplotype and Alzheimer's disease in population or clinic based series or in familial disease.

Baker M, Graff-Radford D, Wavrant DeVrièze F, Graff-Radford N, Petersen RC, Kokmen E, Boeve B, Myllykangas L, Polvikoski T, Sulkava R, Verkoniemmi A, Tienari P, Haltia M, Hardy J, Hutton M, Perez-Tur J.

Neurosci Lett. 2000 May 12;285(2):147-9.

PMID:
10793248
46.

Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis.

Herva R, Tyynelä J, Hirvasniemi A, Syrjäkallio-Ylitalo M, Haltia M.

Brain Pathol. 2000 Apr;10(2):215-22.

PMID:
10764041
47.

Muscle-eye-brain disease: clinical features, visual evoked potentials and brain imaging in 20 patients.

Santavuori P, Valanne L, Autti T, Haltia M, Pihko H, Sainio K.

Eur J Paediatr Neurol. 1998;2(1):41-7.

PMID:
10726845
48.

Variant Alzheimer's disease with spastic paraparesis: clinical characterization.

Verkkoniemi A, Somer M, Rinne JO, Myllykangas L, Crook R, Hardy J, Viitanen M, Kalimo H, Haltia M.

Neurology. 2000 Mar 14;54(5):1103-9.

PMID:
10720282
49.

More about: cell and molecular biology of simian virus 40: implications for human infections and disease.

Ohgaki H, Huang H, Haltia M, Vainio H, Kleihues P.

J Natl Cancer Inst. 2000 Mar 15;92(6):495-7. No abstract available.

PMID:
10716971
50.

Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease.

Auranen M, Rapola J, Pihko H, Haltia M, Leivo I, Soinila S, Virtanen I, Kalimo H, Anderson LV, Santavuori P, Somer H.

Neuromuscul Disord. 2000 Jan;10(1):16-23.

PMID:
10677859

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