Doriana Misceo

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 11

Top Topics

Traumatic Brain Injury

Endoplasmic Reticulum

Top Venues

Science signaling

Brain : a journal of neurology

This page only lists publications with an associated author ORCID identifier.

Publications

Doriana Misceo, Petter Strømme, Fatemeh Bitarafan, Maninder Singh Chawla, Ying Sheng, Sandra Monica Bach de Courtade, Lars Eide, Eirik Frengen
Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome. Genes 15 (4) (2024)
Doriana Misceo, Petter Strømme, Fatemeh Bitarafan, Maninder Singh Chawla, Ying Sheng, Sandra Monica Bach de Courtade, Lars Eide, Eirik Frengen
Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome. Genes 15 (4) (2024)
Doriana Misceo, Petter Strømme, Fatemeh Bitarafan, Maninder Singh Chawla, Ying Sheng, Sandra Monica Bach de Courtade, Lars Eide, Eirik Frengen
Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome. Genes 15 (4) (2024)
Doriana Misceo, Petter Strømme, Fatemeh Bitarafan, Maninder Singh Chawla, Ying Sheng, Sandra Monica Bach de Courtade, Lars Eide, Eirik Frengen
Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome. Genes 15 (4) (2024)
Thilini H Gamage, Herwig Grabmayr, Ferdinand Horvath, Marc Fahrner, Doriana Misceo, William Edward Louch, Gjermund Gunnes, Helen Pullisaar, Janne Elin Reseland, Staale Petter Lyngstadaas, Asbjørn Holmgren, Silja S Amundsen, Petr Rathner, Linda Cerofolini, Enrico Ravera, Heinrich Krobath, Claudio Luchinat, Thomas Renger, Norbert Müller, Christoph Romanin, Eirik Frengen
A single amino acid deletion in the ER Ca 2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation. Science signaling 16 (771) (2023)
Thilini H Gamage, Herwig Grabmayr, Ferdinand Horvath, Marc Fahrner, Doriana Misceo, William Edward Louch, Gjermund Gunnes, Helen Pullisaar, Janne Elin Reseland, Staale Petter Lyngstadaas, Asbjørn Holmgren, Silja S Amundsen, Petr Rathner, Linda Cerofolini, Enrico Ravera, Heinrich Krobath, Claudio Luchinat, Thomas Renger, Norbert Müller, Christoph Romanin, Eirik Frengen
A single amino acid deletion in the ER Ca 2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation. Science signaling 16 (771) (2023)
Doriana Misceo, Lisa Lirussi, Petter Strømme, Dulika Sumathipala, Andrea Guerin, Nicole I Wolf, Andres Server, Maria Stensland, Bjørn Dalhus, Aslıhan Tolun, Hester Y Kroes, Tuula A Nyman, Hilde L Nilsen, Eirik Frengen
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis. Brain : a journal of neurology (2023)
Thilini H Gamage, Herwig Grabmayr, Ferdinand Horvath, Marc Fahrner, Doriana Misceo, William Edward Louch, Gjermund Gunnes, Helen Pullisaar, Janne Elin Reseland, Staale Petter Lyngstadaas, Asbjørn Holmgren, Silja S Amundsen, Petr Rathner, Linda Cerofolini, Enrico Ravera, Heinrich Krobath, Claudio Luchinat, Thomas Renger, Norbert Müller, Christoph Romanin, Eirik Frengen
A single amino acid deletion in the ER Ca 2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation. Science signaling 16 (771) (2023)
Doriana Misceo, Lokuliyanage Dona Samudita Senaratne, Inger-Lise Mero, Arvind Y M Sundaram, Pål Marius Bjørnstad, Krzysztof Szczałuba, Piotr Gasperowicz, Benjamin Kamien, Bård Nedregaard, Asbjørn Holmgren, Petter Strømme, Eirik Frengen
Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome. Genes 14 (11) (2023)
Dulika Sumathipala, Petter Strømme, Zohreh Fattahi, Torben Lüders, Ying Sheng, Kimia Kahrizi, Ingunn Holm Einarsen, Jennifer L Sloan, Hossein Najmabadi, Lambert van den Heuvel, Ron A Wevers, Sergio Guerrero-Castillo, Lars Mørkrid, Vassili Valayannopoulos, Paul Hoff Backe, Charles P Venditti, Clara D van Karnebeek, Hilde Nilsen, Eirik Frengen, Doriana Misceo
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences. Brain : a journal of neurology 145 (7) (2022)
Daniel Epting, Lokuliyange D S Senaratne, Elisabeth Ott, Asbjørn Holmgren, Dulika Sumathipala, Selma M Larsen, Julia Wallmeier, Diana Bracht, Kari-Anne M Frikstad, Suzanne Crowley, Alma Sikiric, Tuva Barøy, Barbara Käsmann-Kellner, Eva Decker, Christian Decker, Nadine Bachmann, Sebastian Patzke, Ian G Phelps, Nicholas Katsanis, Rachel Giles, Miriam Schmidts, Manuela Zucknick, Soeren S Lienkamp, Heymut Omran, Erica E Davis, Dan Doherty, Petter Strømme, Eirik Frengen, Carsten Bergmann, Doriana Misceo
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. Human mutation 41 (12) (2020)