| Year |
Citation |
Score |
| 2020 |
Rönkkö J, Molchanova S, Revah-Politi A, Pereira EM, Auranen M, Toppila J, Kvist J, Ludwig A, Neumann J, Bultynck G, Humblet-Baron S, Liston A, Paetau A, Rivera C, Harms MB, et al. Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease. Annals of Clinical and Translational Neurology. PMID 32949214 DOI: 10.1002/Acn3.51190 |
0.303 |
|
| 2020 |
Kantonen J, Mahzabin S, Mäyränpää MI, Tynninen O, Paetau A, Andersson N, Sajantila A, Vapalahti O, Carpén O, Kekäläinen E, Kantele A, Myllykangas L. Neuropathologic features of four autopsied COVID-19 patients. Brain Pathology. PMID 32762083 DOI: 10.1111/Bpa.12889 |
0.324 |
|
| 2019 |
Raunio A, Kaivola K, Tuimala J, Kero M, Oinas M, Polvikoski T, Paetau A, Tienari PJ, Myllykangas L. Lewy-related pathology exhibits two anatomically and genetically distinct progression patterns: a population-based study of Finns aged 85. Acta Neuropathologica. 138: 771-782. PMID 31494694 DOI: 10.1007/S00401-019-02071-3 |
0.308 |
|
| 2019 |
Kuuluvainen L, Kaivola K, Mönkäre S, Laaksovirta H, Jokela M, Udd B, Valori M, Pasanen P, Paetau A, Traynor BJ, Stone DJ, Schleutker J, Pöyhönen M, Tienari PJ, Myllykangas L. Oligogenic basis of sporadic ALS: The example of p.Ala90Val mutation. Neurology. Genetics. 5: e335. PMID 31086828 DOI: 10.1212/Nxg.0000000000000335 |
0.307 |
|
| 2018 |
Sainio MT, Välipakka S, Rinaldi B, Lapatto H, Paetau A, Ojanen S, Brilhante V, Jokela M, Huovinen S, Auranen M, Palmio J, Friant S, Ylikallio E, Udd B, Tyynismaa H. Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy. Journal of Neurology. PMID 30515627 DOI: 10.1007/S00415-018-9137-8 |
0.301 |
|
| 2018 |
Pasanen P, Myllykangas L, Pöyhönen M, Kiviharju A, Siitonen M, Hardy J, Bras J, Paetau A, Tienari PJ, Guerreiro R, Verkkoniemi-Ahola A. Genetics of dementia in a Finnish cohort. European Journal of Human Genetics : Ejhg. PMID 29476165 DOI: 10.1038/S41431-018-0117-3 |
0.313 |
|
| 2018 |
Ignatenko O, Chilov D, Paetau I, de Miguel E, Jackson CB, Capin G, Paetau A, Terzioglu M, Euro L, Suomalainen A. Loss of mtDNA activates astrocytes and leads to spongiotic encephalopathy. Nature Communications. 9: 70. PMID 29302033 DOI: 10.1038/S41467-017-01859-9 |
0.317 |
|
| 2017 |
Auranen M, Paetau A, Piirilä P, Pohju A, Salmi T, Lamminen A, Löfberg M, Mosegaard S, Olsen RK, Tyni T. Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy. Neuromuscular Disorders. 27: 581-584. PMID 28433476 DOI: 10.1016/J.Nmd.2017.03.003 |
0.347 |
|
| 2017 |
Anttonen AK, Laari A, Kousi M, Yang YJ, Jääskeläinen T, Somer M, Siintola E, Jakkula E, Muona M, Tegelberg S, Lönnqvist T, Pihko H, Valanne L, Paetau A, Lun MP, et al. ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss. Brain : a Journal of Neurology. PMID 28335020 DOI: 10.1093/Brain/Awx040 |
0.338 |
|
| 2017 |
Ritvonen E, Pitkänen E, Karppinen A, Vehkavaara S, Demir H, Paetau A, Schalin-Jäntti C, Karhu A. Impact of AIP and inhibitory G protein alpha 2 proteins on clinical features of sporadic GH-secreting pituitary adenomas. European Journal of Endocrinology. 176: 243-252. PMID 27998919 DOI: 10.1530/Eje-16-0620 |
0.31 |
|
| 2016 |
Ylikallio E, Auranen M, Mahjneh I, Lamminen A, Kousi M, Träskelin A, Muurinen T, Löfberg M, Salmi T, Paetau A, Lehesjoki A, Piirilä P, Kiuru-Enari S. Decreased Aerobic Capacity in ANO5-Muscular Dystrophy. Journal of Neuromuscular Diseases. 3: 475-485. PMID 27911336 DOI: 10.3233/Jnd-160186 |
0.345 |
|
| 2016 |
Pasanen P, Palin E, Pohjolan-Pirhonen R, Pöyhönen M, Rinne JO, Päivärinta M, Martikainen MH, Kaasinen V, Hietala M, Gardberg M, Saukkonen AM, Eerola-Rautio J, Kaakkola S, Lyytinen J, Tienari PJ, ... Paetau A, et al. SNCA mutation p.Ala53Glu is derived from a common founder in the Finnish population. Neurobiology of Aging. PMID 27838048 DOI: 10.1016/J.Neurobiolaging.2016.10.014 |
0.304 |
|
| 2016 |
Kuuluvainen L, Pöyhönen M, Pasanen P, Siitonen M, Rummukainen J, Tienari PJ, Paetau A, Myllykangas L. A Novel Loss-of-Function GRN Mutation p.(Tyr229*): Clinical and Neuropathological Features Journal of Alzheimer's Disease. 55: 1167-1174. PMID 27767988 DOI: 10.3233/Jad-160647 |
0.339 |
|
| 2016 |
Muona M, Ishimura R, Laari A, Ichimura Y, Linnankivi T, Keski-Filppula R, Herva R, Rantala H, Paetau A, Pöyhönen M, Obata M, Uemura T, Karhu T, Bizen N, Takebayashi H, et al. Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy. American Journal of Human Genetics. PMID 27545674 DOI: 10.1016/J.Ajhg.2016.06.020 |
0.318 |
|
| 2016 |
Hiippala A, Vasilescu C, Tallila J, Alastalo T, Paetau A, Tyni T, Suomalainen A, Euro L, Ojala T. The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy American Journal of Medical Genetics Part A. 170: 1433-1438. PMID 26888048 DOI: 10.1002/Ajmg.A.37596 |
0.335 |
|
| 2015 |
Auranen M, Palmio J, Ylikallio E, Huovinen S, Paetau A, Sandell S, Haapasalo H, Viitaniemi K, Piirilä P, Tyynismaa H, Udd B. PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry. Neurology Genetics. 1. PMID 27066546 DOI: 10.1212/Nxg.0000000000000007 |
0.31 |
|
| 2015 |
Auranen M, Ylikallio E, Shcherbii M, Paetau A, Kiuru-Enari S, Toppila JP, Tyynismaa H. CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease Neurology Genetics. 1: 1. PMID 27066538 DOI: 10.1212/Nxg.0000000000000003 |
0.334 |
|
| 2015 |
Suriyanarayanan S, Auranen M, Toppila J, Paetau A, Shcherbii M, Palin E, Wei Y, Lohioja T, Schlotter-Weigel B, Schön U, Abicht A, Rautenstrauss B, Tyynismaa H, Walter MC, Hornemann T, et al. The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy. Neuromolecular Medicine. PMID 26573920 DOI: 10.1007/S12017-015-8379-1 |
0.329 |
|
| 2015 |
Lake NJ, Bird MJ, Isohanni P, Paetau A. Leigh Syndrome: Neuropathology and Pathogenesis Journal of Neuropathology and Experimental Neurology. 74: 482-492. PMID 25978847 DOI: 10.1097/Nen.0000000000000195 |
0.308 |
|
| 2014 |
Pasanen P, Myllykangas L, Siitonen M, Raunio A, Kaakkola S, Lyytinen J, Tienari PJ, Pöyhönen M, Paetau A. Novel α-synuclein mutation A53E associated with atypical multiple system atrophy and Parkinson's disease-type pathology. Neurobiology of Aging. 35: 2180.e1-5. PMID 24746362 DOI: 10.1016/J.Neurobiolaging.2014.03.024 |
0.32 |
|
| 2014 |
Ferrari R, Kero M, Mok K, Paetau A, Tienari PJ, Tynninen O, Hardy J, Momeni P, Verkkoniemi-Ahola A, Myllykangas L. Familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma. Neurobiology of Aging. 35: 444.e11-4. PMID 24080172 DOI: 10.1016/J.Neurobiolaging.2013.08.021 |
0.383 |
|
| 2013 |
Tanskanen M, Kalaria RN, Notkola IL, Mäkelä M, Polvikoski T, Myllykangas L, Sulkava R, Kalimo H, Paetau A, Scheltens P, Barkhof F, van Straaten E, Erkinjuntti T. Relationships between white matter hyperintensities, cerebral amyloid angiopathy and dementia in a population-based sample of the oldest old. Current Alzheimer Research. 10: 1090-7. PMID 24156259 DOI: 10.2174/15672050113106660177 |
0.306 |
|
| 2013 |
Hooshmand B, Polvikoski T, Kivipelto M, Tanskanen M, Myllykangas L, Erkinjuntti T, Mäkelä M, Oinas M, Paetau A, Scheltens P, van Straaten EC, Sulkava R, Solomon A. Plasma homocysteine, Alzheimer and cerebrovascular pathology: a population-based autopsy study. Brain : a Journal of Neurology. 136: 2707-16. PMID 23983028 DOI: 10.1093/Brain/Awt206 |
0.319 |
|
| 2013 |
Carroll CJ, Isohanni P, Pöyhönen R, Euro L, Richter U, Brilhante V, Götz A, Lahtinen T, Paetau A, Pihko H, Battersby BJ, Tyynismaa H, Suomalainen A. Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy. Journal of Medical Genetics. 50: 151-9. PMID 23315540 DOI: 10.1136/Jmedgenet-2012-101375 |
0.31 |
|
| 2013 |
Kero M, Paetau A, Polvikoski T, Tanskanen M, Sulkava R, Jansson L, Myllykangas L, Tienari PJ. Amyloid precursor protein (APP) A673T mutation in the elderly Finnish population. Neurobiology of Aging. 34: 1518.e1-3. PMID 23102935 DOI: 10.1016/J.Neurobiolaging.2012.09.017 |
0.324 |
|
| 2013 |
Kero M, Ferrari R, Mok K, Paetau A, Tienari PJ, Tynninen O, Hardy J, Momeni P, Verkkoniemi-Ahola A, Myllykangas L. A familial FTD associated with C9orf72 repeat expansion and dysplastic gangliocytoma Molecular Neurodegeneration. 8: P60. DOI: 10.1186/1750-1326-8-S1-P60 |
0.379 |
|
| 2012 |
Tanskanen M, Mäkelä M, Myllykangas L, Rastas S, Sulkava R, Paetau A. Intracerebral hemorrhage in the oldest old: a population-based study (vantaa 85+). Frontiers in Neurology. 3: 103. PMID 23015796 DOI: 10.3389/Fneur.2012.00103 |
0.318 |
|
| 2012 |
Laitila J, Hanif M, Paetau A, Hujanen S, Keto J, Somervuo P, Huovinen S, Udd B, Wallgren-Pettersson C, Auvinen P, Hackman P, Pelin K. Expression of multiple nebulin isoforms in human skeletal muscle and brain. Muscle & Nerve. 46: 730-7. PMID 22941678 DOI: 10.1002/Mus.23380 |
0.306 |
|
| 2012 |
Elo JM, Yadavalli SS, Euro L, Isohanni P, Götz A, Carroll CJ, Valanne L, Alkuraya FS, Uusimaa J, Paetau A, Caruso EM, Pihko H, Ibba M, Tyynismaa H, Suomalainen A. Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. Human Molecular Genetics. 21: 4521-9. PMID 22833457 DOI: 10.1093/Hmg/Dds294 |
0.316 |
|
| 2012 |
Palin EJ, Hakonen AH, Korpela M, Paetau A, Suomalainen A. Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxia. Journal of the Neurological Sciences. 315: 160-3. PMID 22166854 DOI: 10.1016/J.Jns.2011.11.028 |
0.333 |
|
| 2012 |
Tyynismaa H, Sun R, Ahola-Erkkilä S, Almusa H, Pöyhönen R, Korpela M, Honkaniemi J, Isohanni P, Paetau A, Wang L, Suomalainen A. Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Human Molecular Genetics. 21: 66-75. PMID 21937588 DOI: 10.1093/Hmg/Ddr438 |
0.359 |
|
| 2011 |
Peuralinna T, Tanskanen M, Mäkelä M, Polvikoski T, Paetau A, Kalimo H, Sulkava R, Hardy J, Lai SL, Arepalli S, Hernandez D, Traynor BJ, Singleton A, Tienari PJ, Myllykangas L. APOE and AβPP gene variation in cortical and cerebrovascular amyloid-β pathology and Alzheimer's disease: a population-based analysis. Journal of Alzheimer's Disease : Jad. 26: 377-85. PMID 21654062 DOI: 10.3233/Jad-2011-102049 |
0.315 |
|
| 2011 |
Götz A, Tyynismaa H, Euro L, Ellonen P, Hyötyläinen T, Ojala T, Hämäläinen RH, Tommiska J, Raivio T, Oresic M, Karikoski R, Tammela O, Simola KO, Paetau A, Tyni T, et al. Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. American Journal of Human Genetics. 88: 635-42. PMID 21549344 DOI: 10.1016/J.Ajhg.2011.04.006 |
0.331 |
|
| 2011 |
Isohanni P, Hakonen AH, Euro L, Paetau I, Linnankivi T, Liukkonen E, Wallden T, Luostarinen L, Valanne L, Paetau A, Uusimaa J, Lönnqvist T, Suomalainen A, Pihko H. POLG1 manifestations in childhood. Neurology. 76: 811-5. PMID 21357833 DOI: 10.1212/Wnl.0B013E31820E7B25 |
0.347 |
|
| 2011 |
Rauramaa T, Pikkarainen M, Englund E, Ince PG, Jellinger K, Paetau A, Alafuzoff I. TAR-DNA binding protein-43 and alterations in the hippocampus. Journal of Neural Transmission (Vienna, Austria : 1996). 118: 683-9. PMID 21210283 DOI: 10.1007/S00702-010-0574-5 |
0.314 |
|
| 2010 |
Lyytinen J, Sairanen T, Valanne L, Salmi T, Paetau A, Pekkonen E. Progressive Stroke-Like Symptoms in a Patient with Sporadic Creutzfeldt-Jakob Disease. Case Reports in Neurology. 2: 12-18. PMID 20689629 DOI: 10.1159/000289177 |
0.313 |
|
| 2010 |
Mäkitie LT, Kanerva K, Polvikoski T, Paetau A, Andersson LC. Brain neurons express ornithine decarboxylase-activating antizyme inhibitor 2 with accumulation in Alzheimer's disease. Brain Pathology (Zurich, Switzerland). 20: 571-80. PMID 19832840 DOI: 10.1111/J.1750-3639.2009.00334.X |
0.309 |
|
| 2009 |
Heliövaara E, Raitila A, Launonen V, Paetau A, Arola J, Lehtonen H, Sane T, Weil RJ, Vierimaa O, Salmela P, Tuppurainen K, Mäkinen M, Aaltonen LA, Karhu A. The expression of AIP-related molecules in elucidation of cellular pathways in pituitary adenomas. The American Journal of Pathology. 175: 2501-7. PMID 19850893 DOI: 10.2353/Ajpath.2009.081131 |
0.302 |
|
| 2009 |
Tanskanen M, Paetau A, Salonen O, Salmi T, Lamminen A, Lindsberg P, Somer H, Kiuru-Enari S. Withdrawn: Severe ataxia with neuropathy in hereditary gelsolin amyloidosis Amyloid. 16: 246-246. PMID 19842787 DOI: 10.3109/13506120701223149 |
0.339 |
|
| 2009 |
Oinas M, Polvikoski T, Sulkava R, Myllykangas L, Juva K, Notkola IL, Rastas S, Niinistö L, Kalimo H, Paetau A. Neuropathologic findings of dementia with lewy bodies (DLB) in a population-based Vantaa 85+ study. Journal of Alzheimer's Disease : Jad. 18: 677-89. PMID 19625740 DOI: 10.3233/Jad-2009-1169 |
0.313 |
|
| 2009 |
Tanskanen M, Paetau A, Salonen O, Salmi T, Lamminen A, Lindsberg P, Somer H, Kiuru-Enari S. Severe ataxia with neuropathy in hereditary gelsolin amyloidosis. Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis. 1-7. PMID 19557557 DOI: 10.1080/13506120701223149 |
0.33 |
|
| 2009 |
Korpela MP, Paetau A, Löfberg MI, Timonen MH, Lamminen AE, Kiuru-Enari SM. A novel mutation of the GAA gene in a Finnish late-onset Pompe disease patient: clinical phenotype and follow-up with enzyme replacement therapy. Muscle & Nerve. 40: 143-8. PMID 19472353 DOI: 10.1002/Mus.21291 |
0.339 |
|
| 2009 |
Lönnqvist T, Paetau A, Valanne L, Pihko H. Recessive twinkle mutations cause severe epileptic encephalopathy. Brain : a Journal of Neurology. 132: 1553-62. PMID 19304794 DOI: 10.1093/Brain/Awp045 |
0.374 |
|
| 2008 |
Götz A, Isohanni P, Pihko H, Paetau A, Herva R, Saarenpää-Heikkilä O, Valanne L, Marjavaara S, Suomalainen A. Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome. Brain : a Journal of Neurology. 131: 2841-50. PMID 18819985 DOI: 10.1093/Brain/Awn236 |
0.374 |
|
| 2008 |
Hakonen AH, Goffart S, Marjavaara S, Paetau A, Cooper H, Mattila K, Lampinen M, Sajantila A, Lönnqvist T, Spelbrink JN, Suomalainen A. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. Human Molecular Genetics. 17: 3822-35. PMID 18775955 DOI: 10.1093/Hmg/Ddn280 |
0.342 |
|
| 2008 |
Paetau A, Honkala H, Salonen R, Ignatius J, Kestilä M, Herva R. Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis. Journal of Neuropathology and Experimental Neurology. 67: 750-62. PMID 18648327 DOI: 10.1097/Nen.0B013E318180Ec2E |
0.33 |
|
| 2008 |
Koivunen J, Verkkoniemi A, Aalto S, Paetau A, Ahonen JP, Viitanen M, NÃ¥gren K, Rokka J, Haaparanta M, Kalimo H, Rinne JO. PET amyloid ligand [11C]PIB uptake shows predominantly striatal increase in variant Alzheimer's disease. Brain : a Journal of Neurology. 131: 1845-53. PMID 18583368 DOI: 10.1093/Brain/Awn107 |
0.313 |
|
| 2007 |
Hakonen AH, Isohanni P, Paetau A, Herva R, Suomalainen A, Lönnqvist T. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain : a Journal of Neurology. 130: 3032-40. PMID 17921179 DOI: 10.1093/Brain/Awm242 |
0.342 |
|
| 2007 |
Rantamäki M, Luoma P, Virta JJ, Rinne JO, Paetau A, Suomalainen A, Udd B. Do carriers of POLG mutation W748S have disease manifestations? Clinical Genetics. 72: 532-7. PMID 17894835 DOI: 10.1111/J.1399-0004.2007.00908.X |
0.345 |
|
| 2007 |
Oinas M, Sulkava R, Polvikoski T, Kalimo H, Paetau A. Reappraisal of a consecutive autopsy series of patients with primary degenerative dementia: Lewy-related pathology. Apmis : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica. 115: 820-7. PMID 17614849 DOI: 10.1111/J.1600-0463.2007.Apm_521.X |
0.322 |
|
| 2007 |
Tanskanen M, Paetau A, Salonen O, Salmi T, Lamminen A, Lindsberg P, Somer H, Kiuru-Enari S. Severe ataxia with neuropathy in hereditary gelsolin amyloidosis: a case report. Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis. 14: 89-95. PMID 17453628 DOI: 10.1080/13506120601116393 |
0.334 |
|
| 2006 |
Tanskanen M, Kiuru-Enari S, Tienari P, Polvikoski T, Verkkoniemi A, Rastas S, Sulkava R, Paetau A. Senile systemic amyloidosis, cerebral amyloid angiopathy, and dementia in a very old Finnish population. Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis. 13: 164-9. PMID 17062383 DOI: 10.1080/13506120600876757 |
0.327 |
|
| 2006 |
Linnankivi T, Valanne L, Paetau A, Alafuzoff I, Hakumäki JM, Kivelä T, Lönnqvist T, Mäkitie O, Pääkkönen L, Vainionpää L, Vanninen R, Herva R, Pihko H. Cerebroretinal microangiopathy with calcifications and cysts. Neurology. 67: 1437-43. PMID 16943371 DOI: 10.1212/01.Wnl.0000236999.63933.B0 |
0.323 |
|
| 2006 |
Blom T, Tynninen O, Puputti M, Halonen M, Paetau A, Haapasalo H, Tanner M, Nupponen NN. Molecular genetic analysis of the REST/NRSF gene in nervous system tumors. Acta Neuropathologica. 112: 483-90. PMID 16823502 DOI: 10.1007/S00401-006-0102-8 |
0.321 |
|
| 2005 |
Tyynismaa H, Mjosund KP, Wanrooij S, Lappalainen I, Ylikallio E, Jalanko A, Spelbrink JN, Paetau A, Suomalainen A. Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice. Proceedings of the National Academy of Sciences of the United States of America. 102: 17687-92. PMID 16301523 DOI: 10.1073/Pnas.0505551102 |
0.328 |
|
| 2005 |
Anttonen AK, Mahjneh I, Hämäläinen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, et al. The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. Nature Genetics. 37: 1309-11. PMID 16282978 DOI: 10.1038/Ng1677 |
0.303 |
|
| 2005 |
Tanskanen M, Lindsberg PJ, Tienari PJ, Polvikoski T, Sulkava R, Verkkoniemi A, Rastas S, Paetau A, Kiuru-Enari S. Cerebral amyloid angiopathy in a 95+ cohort: complement activation and apolipoprotein E (ApoE) genotype. Neuropathology and Applied Neurobiology. 31: 589-99. PMID 16281907 DOI: 10.1111/J.1365-2990.2005.00652.X |
0.327 |
|
| 2005 |
Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, Goethem GV, Lofgren A, Hackman P, Paetau A, Kaakkola S, Majamaa K, Varilo T, Udd B, Kaariainen H, et al. Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. American Journal of Human Genetics. 77: 430-41. PMID 16080118 DOI: 10.1086/444548 |
0.368 |
|
| 2005 |
Stenqvist L, Paetau A, Valanne L, Suomalainen A, Pihko H. A juvenile case of MELAS with T3271C mitochondrial DNA mutation. Pediatric Research. 58: 258-62. PMID 16006433 DOI: 10.1203/01.Pdr.0000169966.82325.1A |
0.342 |
|
| 2003 |
Mahjneh I, Haravuori H, Paetau A, Anderson LV, Saarinen A, Udd B, Somer H. A distinct phenotype of distal myopathy in a large Finnish family. Neurology. 61: 87-92. PMID 12847162 DOI: 10.1212/01.Wnl.0000073618.91577.E8 |
0.307 |
|
| 2002 |
Mahjneh I, Marconi G, Paetau A, Saarinen A, Salmi T, Somer H. Axial myopathy--an unrecognised entity. Journal of Neurology. 249: 730-4. PMID 12111307 DOI: 10.1007/S00415-002-0701-9 |
0.3 |
|
| 2001 |
Verkkoniemi A, Kalimo H, Paetau A, Somer M, Iwatsubo T, Hardy J, Haltia M. Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype. Journal of Neuropathology and Experimental Neurology. 60: 483-92. PMID 11379823 DOI: 10.1093/Jnen/60.5.483 |
0.324 |
|
| 2001 |
Löfberg M, Lindholm H, Näveri H, Majander A, Suomalainen A, Paetau A, Sovijärvi A, Härkönen M, Somer H. ATP, phosphocreatine and lactate in exercising muscle in mitochondrial disease and McArdle's disease. Neuromuscular Disorders : Nmd. 11: 370-5. PMID 11369188 DOI: 10.1016/S0960-8966(00)00205-4 |
0.302 |
|
| 2000 |
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, ... ... Paetau A, et al. 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. Annals of Neurology. 48: 806-8. PMID 11079548 DOI: 10.1002/1531-8249(200011)48:5<806::Aid-Ana18>3.0.Co;2-F |
0.349 |
|
| 1999 |
Prihar G, Verkkoniem A, Perez-Tur J, Crook R, Lincoln S, Houlden H, Somer M, Paetau A, Kalimo H, Grover A, Myllykangas L, Hutton M, Hardy J, Haltia M. Alzheimer disease PS-1 exon 9 deletion defined. Nature Medicine. 5: 1090. PMID 10502791 DOI: 10.1038/13383 |
0.342 |
|
| 1998 |
Lönnqvist T, Paetau A, Nikali K, von Boguslawski K, Pihko H. Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features. Journal of the Neurological Sciences. 161: 57-65. PMID 9879682 DOI: 10.1016/S0022-510X(98)00249-4 |
0.317 |
|
| 1998 |
Udd B, Haravuori H, Kalimo H, Partanen J, Pulkkinen L, Paetau A, Peltonen L, Somer H. Tibial muscular dystrophy--from clinical description to linkage on chromosome 2q31. Neuromuscular Disorders : Nmd. 8: 327-32. PMID 9673987 DOI: 10.1016/S0960-8966(98)00024-8 |
0.317 |
|
| 1998 |
Crook R, Verkkoniemi A, Perez-Tur J, Mehta N, Baker M, Houlden H, Farrer M, Hutton M, Lincoln S, Hardy J, Gwinn K, Somer M, Paetau A, Kalimo H, Ylikoski R, et al. A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nature Medicine. 4: 452-5. PMID 9546792 DOI: 10.1038/Nm0498-452 |
0.35 |
|
| 1997 |
Tyni T, Rapola J, Paetau A, Palotie A, Pihko H. Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. Pediatric Pathology & Laboratory Medicine : Journal of the Society For Pediatric Pathology, Affiliated With the International Paediatric Pathology Association. 17: 427-47. PMID 9185222 DOI: 10.1080/15513819709168585 |
0.333 |
|
| 1997 |
Suomalainen A, Majander A, Wallin M, Setälä K, Kontula K, Leinonen H, Salmi T, Paetau A, Haltia M, Valanne L, Lonnqvist J, Peltonen L, Somer H. Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease. Neurology. 48: 1244-53. PMID 9153451 DOI: 10.1212/Wnl.48.5.1244 |
0.354 |
|
| 1997 |
Haltia M, Leivo I, Somer H, Pihko H, Paetau A, Kivelä T, Tarkkanen A, Tomé F, Engvall E, Santavuori P. Muscle-eye-brain disease: a neuropathological study. Annals of Neurology. 41: 173-80. PMID 9029066 DOI: 10.1002/Ana.410410208 |
0.341 |
|
| 1997 |
Lönnqvist T, Pihko H, Paetau A. Neuropathology of infantile onset spinocerebellar ataxia Neuromuscular Disorders. 7: 468-469. DOI: 10.1016/S0960-8966(97)87330-0 |
0.301 |
|
| 1992 |
Suomalainen A, Paetau A, Leinonen H, Majander A, Peltonen L, Somer H. Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA. Lancet. 340: 1319-20. PMID 1360038 DOI: 10.1016/0140-6736(92)92496-3 |
0.301 |
|
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