Ylikallio, E. : rechercher sur Z-Library

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1

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

Anttonen, A.-K., Hilander, T., Linnankivi, T., Isohanni, P., French, R. L., Liu, Y., Simonovi , M., Soll, D., Somer, M., Muth-Pawlak, D., Corthals, G. L., Laari, A., Ylikallio, E., Lahde, M., Valanne,

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 1.32 MB

english, 2015

2

DominantGDAP1founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland

Auranen, Mari, Ylikallio, Emil, Toppila, Jussi, Somer, Mirja, Kiuru-Enari, Sari, Tyynismaa, Henna

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 228 KB

english, 2013

3

The literacy environment of preschool classrooms in three Nordic countries: challenges in a multilingual and digital society

Hofslundsengen, Hilde, Magnusson, Maria, Svensson, Ann-Katrin, Jusslin, Sofia, Mellgren, Elisabeth, Hagtvet, Bente E., Heilä-Ylikallio, Ria

Journal:

Early Child Development and Care

Année:

2018

Langue:

english

Fichier:

PDF, 1.74 MB

english, 2018

4

Screening for Fabry disease and hereditary ATTR amyloidosis in idiopathic small fiber and mixed neuropathy

Hietaharju, Aki J., Samuelsson, Kristin, Radovic, Ana, Press, Rayomand, Auranen, Mari, Ylikallio, Emil, Tyynismaa, Henna, Kärppä, Mikko, Veteläinen, Matilda, Peltola, Niina, Mellgren, Svein I., Myglan

Journal:

Molecular Genetics and Metabolism

Année:

2019

Langue:

english

Fichier:

PDF, 161 KB

english, 2019

5

A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

Henna Tyynismaa, Emil Ylikallio, Mehul Patel, Maria J. Molnar, Ronald G. Haller, Anu Suomalainen

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 472 KB

english, 2009

6

Mechanisms of mitochondrial diseases

Ylikallio, Emil, Suomalainen, Anu

Journal:

Annals of Medicine

Année:

2012

Langue:

english

Fichier:

PDF, 298 KB

english, 2012

7

Drug metabolism and liver function after methyldopa withdrawal.

A Ylikallio, EA Sotaniemi

Journal:

British Journal of Clinical Pharmacology

Année:

1980

Langue:

english

Fichier:

PDF, 531 KB

english, 1980

8

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot–Marie–Tooth neuropathy and a mutation in HSPB1

Ylikallio, Emil, Johari, Mridul, Konovalova, Svetlana, Moilanen, Jukka S, Kiuru-Enari, Sari, Auranen, Mari, Pajunen, Leila, Tyynismaa, Henna

Journal:

European Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 801 KB

english, 2014

9

O44 – 1703 Deficiency of the E3 ubiquitin ligase TRIM2 causes early-onset axonal neuropathy

Ylikallio, E, Pöyhönen, R, Hilander, T, Paetau, A, Lönnqvist, T, Tyynismaa, H

Journal:

European Journal of Paediatric Neurology

Année:

2013

Langue:

english

Fichier:

PDF, 63 KB

english, 2013

10

Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia

Ylikallio, Emil, Kim, Doyoun, Isohanni, Pirjo, Auranen, Mari, Kim, Eunjoon, Lönnqvist, Tuula, Tyynismaa, Henna

Journal:

European Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 1.40 MB

english, 2015

11

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice

Tyynismaa, H., Mjosund, K. P., Wanrooij, S., Lappalainen, I., Ylikallio, E., Jalanko, A., Spelbrink, J. N., Paetau, A., Suomalainen, A.

Journal:

Proceedings of the National Academy of Sciences

Année:

2005

Langue:

english

Fichier:

PDF, 493 KB

english, 2005

12

Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress

Ylikallio, Emil, Konovalova, Svetlana, Dhungana, Yogesh, Hilander, Taru, Junna, Nella, Partanen, Juhani V., Toppila, Jussi P., Auranen, Mari, Tyynismaa, Henna

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 2.62 MB

english, 2015

13

Movement Disorders || Generating Mouse Models of Mitochondrial Disease

Ylikallio, Emil

Année:

2015

Langue:

english

Fichier:

PDF, 419 KB

english, 2015

14

Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice

Ylikallio, E., Page, J. L., Xu, X., Lampinen, M., Bepler, G., Ide, T., Tyynismaa, H., Weiss, R. S., Suomalainen, A.

Journal:

Nucleic Acids Research

Année:

2010

Langue:

english

Fichier:

PDF, 4.39 MB

english, 2010

15

Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy

Ylikallio, E., Poyhonen, R., Zimon, M., De Vriendt, E., Hilander, T., Paetau, A., Jordanova, A., Lonnqvist, T., Tyynismaa, H.

Journal:

Human Molecular Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 528 KB

english, 2013

16

High mitochondrial DNA copy number has detrimental effects in mice

Ylikallio, E., Tyynismaa, H., Tsutsui, H., Ide, T., Suomalainen, A.

Journal:

Human Molecular Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 518 KB

english, 2010

17

PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry

Auranen, M., Palmio, J., Ylikallio, E., Huovinen, S., Paetau, A., Sandell, S., Haapasalo, H., Viitaniemi, K., Piirila, P., Tyynismaa, H., Udd, B.

Journal:

Neurology: Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 789 KB

english, 2015

18

Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val

Pasanen, P., Myllykangas, L., Pöyhönen, M., Kiuru-Enari, S., Tienari, P. J., Laaksovirta, H., Toppila, J., Ylikallio, E., Tyynismaa, H., Auranen, M.

Journal:

Acta Neurologica Scandinavica

Année:

2016

Langue:

english

Fichier:

PDF, 109 KB

english, 2016

19

CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease

Auranen, Mari, Ylikallio, Emil, Shcherbii, Maria, Paetau, Anders, Kiuru-Enari, Sari, Toppila, Jussi P., Tyynismaa, Henna

Journal:

Neurology: Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 368 KB

english, 2015

20

CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients

Penttilä, Sini, Jokela, Manu, Saukkonen, Anna Maija, Toivanen, Jari, Palmio, Johanna, Lähdesmäki, Janne, Sandell, Satu, Shcherbii, Mariia, Auranen, Mari, Ylikallio, Emil, Tyynismaa, Henna, Udd, Bjarne

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Année:

2017

Langue:

english

Fichier:

PDF, 980 KB

english, 2017

21

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy

Ylikallio, Emil, Auranen, Mari, Mahjneh, Ibrahim, Lamminen, Antti, Kousi, Maria, Träskelin, Ann-Liz, Muurinen, Tiina, Löfberg, Mervi, Salmi, Tapani, Paetau, Anders, Lehesjoki, Anna-Elina, Piirilä, Päi

Journal:

Journal of Neuromuscular Diseases

Année:

2016

Langue:

english

Fichier:

PDF, 226 KB

english, 2016

22

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Ylikallio, Emil, Woldegebriel, Rosa, Tumiati, Manuela, Isohanni, Pirjo, Ryan, Monique M., Stark, Zornitza, Walsh, Maie, Sawyer, Sarah L., Bell, Katrina M., Oshlack, Alicia, Lockhart, Paul J., Shcherbi

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 939 KB

english, 2017

23

MNDcap gene panel as a diagnostic tool in motor neuron disorders

Penttilä, S., Arumilli, M., Hackman, P., Sainio, M., Ylikallio, E., Tyynismaa, H., Udd, B.

Journal:

Neuromuscular Disorders

Année:

2017

Langue:

english

Fichier:

PDF, 244 KB

english, 2017

24

Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C

Auranen, Mari, Toppila, Jussi, Suriyanarayanan, Saranya, Lone, Museer A, Paetau, Anders, Tyynismaa, Henna, Hornemann, Thorsten, Ylikallio, Emil

Journal:

Molecular Case Studies

Année:

2017

Langue:

english

Fichier:

PDF, 462 KB

english, 2017

25

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia

Cooper, Helen M., Yang, Yang, Ylikallio, Emil, Khairullin, Rafil, Woldegebriel, Rosa, Lin, Kai-Lan, Euro, Liliya, Palin, Eino, Wolf, Alexander, Trokovic, Ras, Isohanni, Pirjo, Kaakkola, Seppo, Auranen

Journal:

Human Molecular Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 913 KB

english, 2017

26

Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy

Sainio, Markus T., Ylikallio, Emil, Mäenpää, Laura, Lahtela, Jenni, Mattila, Pirkko, Auranen, Mari, Palmio, Johanna, Tyynismaa, Henna

Journal:

Neurology: Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 1.42 MB

english, 2018

27

Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease

Piirilä, Päivi, Similä, Minna E., Palmio, Johanna, Wuorimaa, Tomi, Ylikallio, Emil, Sandell, Satu, Haapalahti, Petri, Uotila, Lasse, Tyynismaa, Henna, Udd, Bjarne, Auranen, Mari

Journal:

Frontiers in Neurology

Année:

2016

Langue:

english

Fichier:

PDF, 422 KB

english, 2016

28

Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10 -related diseases

Genin, Emmanuelle C., Bannwarth, Sylvie, Lespinasse, Françoise, Ortega-Vila, Bernardo, Fragaki, Konstantina, Itoh, Kie, Villa, Elodie, Lacas-Gervais, Sandra, Jokela, Manu, Auranen, Mari, Ylikallio, Em

Journal:

Neurobiology of Disease

Année:

2018

Langue:

english

Fichier:

PDF, 7.10 MB

english, 2018

29

Screening for Fabry disease and hereditary ATTR amyloidosis in idiopathic small fiber and mixed neuropathy

Samuelsson, Kristin, Radovic, Ana, Press, Rayomand, Auranen, Mari, Ylikallio, Emil, Tyynismaa, Henna, Kärppä, Mikko, Veteläinen, Matilda, Peltola, Niina, Mellgren, Svein Ivar, Mygland, Åse, Tallaksen,

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 1.32 MB

english, 2018

30

Reply: A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy

Ylikallio, Emil, Woldegebriel, Rosa, Tyynismaa, Henna

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 176 KB

english, 2018

31

Attitudes towards genetic testing and information: does parenthood shape the views?

Saastamoinen, Antti, Hyttinen, Virva, Kortelainen, Mika, Aaltio, Juho, Auranen, Mari, Ylikallio, Emil, LÃ¶nnqvist, Tuula, Sainio, Markus, Suomalainen, Anu, Tyynismaa, Henna, Isohanni, Pirjo

Journal:

Journal of Community Genetics

Année:

2020

Fichier:

PDF, 356 KB

2020

32

De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder

Ylikallio, Emil, Ritari, Niina, Sainio, Markus, Toppila, Jussi, Kivirikko, Sirpa, Tyynismaa, Henna, Auranen, Mari, Isohanni, Pirjo

Journal:

Année:

2020

Fichier:

PDF, 263 KB

2020