IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta.

Authors: Hytönen, Marjo K.^1,2,3, Rönkkö, Julius⁴, Hundi, Sruthi^1,2,3, Jokinen, Tarja S.⁵, Suonto, Emilia^1,2,3, Teräväinen, Eeva⁶, Donner, Jonas⁷, La Rovere, Rita⁸, Bultynck, Geert⁸, Ylikallio, Emil^4,9, Tyynismaa, Henna^2,4, Lohi, Hannes^1,2,3, hannes.lohi@helsinki.fi

Source: PLoS Genetics; 1/13/2025, Vol. 21 Issue 1, p1-18, 18p

Human IP3 receptor triple knockout stem cells remain pluripotent despite altered mitochondrial metabolism

Authors: Rönkkö, Julius, Rodriguez, Yago, Rasila, Tiina, Torregrosa-Muñumer, Rubén, Pennonen, Jana, Kvist, Jouni, Kuuluvainen, Emilia, Bosch, Ludo Van Den, Hietakangas, Ville, Bultynck, Geert, Tyynismaa, Henna, Ylikallio, Emil

Source: In Cell Calcium September 2023 114

Effectiveness of clinical exome sequencing in adult patients with difficult‐to‐diagnose neurological disorders

Authors: Sainio, Markus T., Aaltio, Juho, Hyttinen, Virva, Kortelainen, Mika, Ojanen, Simo, Paetau, Anders, Tienari, Pentti, Ylikallio, Emil, Auranen, Mari, Tyynismaa, Henna

Source: Acta neurologica Scandinavica. 145(1):63-72

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100143403309.0x000001&indx=1&recIds=ETOCvdc_100143403309.0x000001

Structural insights into Charcot–Marie–Tooth disease‐linked mutations in human GDAP1

Authors: Sutinen, Aleksi, Nguyen, Giang Thi Tuyet, Raasakka, Arne, Muruganandam, Gopinath, Loris, Remy, Ylikallio, Emil, Tyynismaa, Henna, Bartesaghi, Luca, Ruskamo, Salla, Kursula, Petri

Source: FEBS open bio. 12(7):1306-1324

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100154931585.0x000001&indx=1&recIds=ETOCvdc_100154931585.0x000001

Motoneuronitautien lääkehoito - uutuuksia näköpiirissä

Authors: Laaksovirta, Hannu, Ylikallio, Emil, Auranen, Mari, Isohanni, Pirjo

Source: Duodecim. 137(19):1997-2004

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN627536378&indx=1&recIds=ETOCRN627536378

Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism

Authors: Kenvin, Sebastian, Torregrosa-Muñumer, Ruben, Reidelbach, Marco, Pennonen, Jana, Turkia, Jeremi J, Rannila, Erika, Kvist, Jouni, Sainio, Markus T, Huber, Nadine, Herukka, Sanna-Kaisa, Haapasalo, Annakaisa, Auranen, Mari, Trokovic, Ras, Sharma, Vivek, Ylikallio, Emil, Tyynismaa, Henna

Source: Human molecular genetics. 31(6):958-974

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100152512512.0x000001&indx=1&recIds=ETOCvdc_100152512512.0x000001

ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neurons

Authors: Harjuhaahto, Sandra, Rasila, Tiina S., Molchanova, Svetlana M., Woldegebriel, Rosa, Kvist, Jouni, Konovalova, Svetlana, Sainio, Markus T., Pennonen, Jana, Torregrosa-Muñumer, Rubén, Ibrahim, Hazem, Otonkoski, Timo, Taira, Tomi, Ylikallio, Emil, Tyynismaa, Henna

Source: In Neurobiology of Disease July 2020 141

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

Authors: Saastamoinen, Antti, Hyttinen, Virva, Kortelainen, Mika, Aaltio, Juho, Auranen, Mari, Ylikallio, Emil, Lönnqvist, Tuula, Sainio, Markus, Suomalainen, Anu, Tyynismaa, Henna, Isohanni, Pirjo

Source: Journal of community genetics. 11(4):461-473

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100171774741.0x000001&indx=1&recIds=ETOCvdc_100171774741.0x000001

Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease

Authors: Rönkkö, Julius, Molchanova, Svetlana, Revah‐Politi, Anya, Pereira, Elaine M., Auranen, Mari, Toppila, Jussi, Kvist, Jouni, Ludwig, Anastasia, Neumann, Julika, Bultynck, Geert, Humblet‐Baron, Stéphanie, Liston, Adrian, Paetau, Anders, Rivera, Claudio, Harms, Matthew B., Tyynismaa, Henna, Ylikallio, Emil

Source: Annals of clinical and translational neurology. 7(10):1962-1972

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100149722652.0x000001&indx=1&recIds=ETOCvdc_100149722652.0x000001

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

Authors: Genin, Emmanuelle C., Bannwarth, Sylvie, Lespinasse, Françoise, Ortega-Vila, Bernardo, Fragaki, Konstantina, Itoh, Kie, Villa, Elodie, Lacas-Gervais, Sandra, Jokela, Manu, Auranen, Mari, Ylikallio, Emil, Mauri-Crouzet, Alessandra, Tyynismaa, Henna, Vihola, Anna, Augé, Gaelle, Cochaud, Charlotte, Sesaki, Hiromi, Ricci, Jean-Ehrland, Udd, Bjarne, Vives-Bauza, Cristofol, Paquis-Flucklinger, Véronique

Source: In Neurobiology of Disease November 2018 119:159-171

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

Authors: Samuelsson, Kristin, Radovic, Ana, Press, Rayomand, Auranen, Mari, Ylikallio, Emil, Tyynismaa, Henna, KäRppä, Mikko, Veteläinen, Matilda, Peltola, Niina, Mellgren, Svein Ivar, Mygland, Åse, Tallaksen, Chantal, Andersen, Henning, Terkelsen, Astrid Juhl, Fontain, Freja, Hietaharju, Aki

Source: Muscle & nerve. 59(3):354-357

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100085907772.0x000001&indx=1&recIds=ETOCvdc_100085907772.0x000001

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

Authors: Sainio, Markus T., Välipakka, Salla, Rinaldi, Bruno, Lapatto, Helena, Paetau, Anders, Ojanen, Simo, Brilhante, Virginia, Jokela, Manu, Huovinen, Sanna, Auranen, Mari, Palmio, Johanna, Friant, Sylvie, Ylikallio, Emil, Udd, Bjarne, Tyynismaa, Henna

Source: Journal of neurology. 266(2):353-360

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100141522659.0x000001&indx=1&recIds=ETOCvdc_100141522659.0x000001

Perinnöllinen neuropatia ja spastinen parapareesi

Authors: Ylikallio, Emil, Tyynismaa, Henna, Auranen, Mari

Source: Duodecim. 134(15):1484-1492

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN616916929&indx=1&recIds=ETOCRN616916929

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

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

Source: In BBA Clinical June 2015 3:233-242

ABCD1-geenin mutaatiosta johtuva adrenomyeloneuropatia spastisen parapareesin taustatekijänä

Authors: Ylikallio, Emil, Rahikkala, Elisa, Keski-Filppula, Riikka, Auranen, Mari, Tyynismaa, Henna

Source: Duodecim. 133(7):683-688

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN610546284&indx=1&recIds=ETOCRN610546284

Lowered oxidative capacity in spinal muscular atrophy, Jokela type; comparison with mitochondrial muscle disease.

Authors: Ratia, Nadja, Palu, Edouard, Lantto, Hanna, Ylikallio, Emil, Luukkonen, Ritva, Suomalainen, Anu, Auranen, Mari, Piirilä, Päivi

Source: Frontiers in Neurology; 2023, p01-10, 10p

Subject Terms: SPINAL muscular atrophy, BLOOD lactate, AEROBIC capacity, MUSCLE diseases, EXERCISE tests, MITOCHONDRIA

Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light.

Authors: Palu, Edouard, Järvilehto, Julius, Pennonen, Jana, Huber, Nadine, Herukka, Sanna-Kaisa, Haapasalo, Annakaisa, Isohanni, Pirjo, Tyynismaa, Henna, Auranen, Mari, Ylikallio, Emil

Source: Neurogenetics; Oct2023, Vol. 24 Issue 4, p291-301, 11p

Subject Terms: GROWTH differentiation factors, NEUROPATHY, CYTOPLASMIC filaments, CHARCOT-Marie-Tooth disease, SINGLE molecules

Company/Entity: NATIONAL Football League

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

Authors: Anttonen, Anna-Kaisa, Hilander, Taru, Linnankivi, Tarja, Isohanni, Pirjo, French, Rachel L., Liu, Yuchen, Simonović, Miljan, Söll, Dieter, Somer, Mirja, Muth-Pawlak, Dorota, Corthals, Garry L., Laari, Anni, Ylikallio, Emil, Lähde, Marja, Valanne, Leena, Lönnqvist, Tuula, Pihko, Helena, Paetau, Anders, Lehesjoki, Anna-Elina, Suomalainen, Anu, Tyynismaa, Henna

Source: Neurology. 85(4):306-315

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100036953627.0x000001&indx=1&recIds=ETOCvdc_100036953627.0x000001

Mechanisms of mitochondrial diseases

Authors: Ylikallio, Emil, Suomalainen, Anu

Source: Annals of medicine. 44(1):41-59

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100097840369.0x000001&indx=1&recIds=ETOCvdc_100097840369.0x000001

Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia

Authors: Wallgren-Pettersson, Carina, Jokela, Manu, Lehtokari, Vilma-Lotta, Tyynismaa, Henna, Sainio, Markus T, Ylikallio, Emil, Tynninen, Olli, Pelin, Katarina, Auranen, Mari

Source: In Neuromuscular Disorders February 2024 35:29-32