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Your search keyword '"Strømme, Petter"' showing total 9 results
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9 results on '"Strømme, Petter"'

1. Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

Author

Ghaffar, Amama, Akhter, Tehmeena, Strømme, Petter, Misceo, Doriana, Khan, Amjad, Frengen, Eirik, Umair, Muhammad, Isidor, Bertrand, Cogné, Benjamin, Khan, Asma A., Bruel, Ange-Line, Sorlin, Arthur, Kuentz, Paul, Chiaverini, Christine, Innes, A. Micheil, Zech, Michael, Baláž, Marek, Havrankova, Petra, Jech, Robert, Ahmed, Zubair M., Riazuddin, Sheikh, and Riazuddin, Saima

Published
2024
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2. Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

Author

Saida, Ken, Maroofian, Reza, Sengoku, Toru, Mitani, Tadahiro, Pagnamenta, Alistair T., Marafi, Dana, Zaki, Maha S., O’Brien, Thomas J., Karimiani, Ehsan Ghayoor, Kaiyrzhanov, Rauan, Takizawa, Marina, Ohori, Sachiko, Leong, Huey Yin, Akay, Gulsen, Galehdari, Hamid, Zamani, Mina, Romy, Ratna, Carroll, Christopher J., Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Malek, Hadis, Ahangari, Najmeh, Tomoum, Hoda, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Murphy, David, Dominik, Natalia, Elbendary, Hasnaa M., Rafat, Karima, Yilmaz, Sanem, Kanmaz, Seda, Serin, Mine, Krishnakumar, Deepa, Gardham, Alice, Maw, Anna, Rao, Tekki Sreenivasa, Alsubhi, Sarah, Srour, Myriam, Buhas, Daniela, Jewett, Tamison, Goldberg, Rachel E., Shamseldin, Hanan, Frengen, Eirik, Misceo, Doriana, Strømme, Petter, Magliocco Ceroni, José Ricardo, Kim, Chong Ae, Yesil, Gozde, Sengenc, Esma, Guler, Serhat, Hull, Mariam, Parnes, Mered, Aktas, Dilek, Anlar, Banu, Bayram, Yavuz, Pehlivan, Davut, Posey, Jennifer E., Alavi, Shahryar, Madani Manshadi, Seyed Ali, Alzaidan, Hamad, Al-Owain, Mohammad, Alabdi, Lama, Abdulwahab, Ferdous, Sekiguchi, Futoshi, Hamanaka, Kohei, Fujita, Atsushi, Uchiyama, Yuri, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Elshafie, Reem M., Salayev, Kamran, Guliyeva, Ulviyya, Alkuraya, Fowzan S., Gleeson, Joseph G., Monaghan, Kristin G., Langley, Katherine G., Yang, Hui, Motavaf, Mahsa, Safari, Saeid, Alipour, Mozhgan, Ogata, Kazuhiro, Brown, André E.X., Lupski, James R., Houlden, Henry, and Matsumoto, Naomichi

Published
2023
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3. DNA methylation episignature in Gabriele-de Vries syndrome

Author

Cherik, Florian, Reilly, Jack, Kerkhof, Jennifer, Levy, Michael, McConkey, Haley, Barat-Houari, Mouna, Butler, Kameryn M., Coubes, Christine, Lee, Jennifer A., Le Guyader, Gwenael, Louie, Raymond J., Patterson, Wesley G., Tedder, Matthew L., Bak, Mads, Hammer, Trine Bjørg, Craigen, William, Démurger, Florence, Dubourg, Christèle, Fradin, Mélanie, Franciskovich, Rachel, Frengen, Eirik, Friedman, Jennifer, Palares, Nathalie Ruiz, Iascone, Maria, Misceo, Doriana, Monin, Pauline, Odent, Sylvie, Philippe, Christophe, Rouxel, Flavien, Saletti, Veronica, Strømme, Petter, Thulin, Perla Cassayre, Sadikovic, Bekim, and Genevieve, David

Published
2022
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5. Novel Loss of Function Variants in CENPF including a Large Intragenic Deletion in Patients with Strømme Syndrome

Author

Misceo, Doriana, primary, Senaratne, Lokuliyanage Dona Samudita, additional, Mero, Inger-Lise, additional, Sundaram, Arvind Y. M., additional, Bjørnstad, Pål Marius, additional, Szczałuba, Krzysztof, additional, Gasperowicz, Piotr, additional, Kamien, Benjamin, additional, Nedregaard, Bård, additional, Holmgren, Asbjørn, additional, Strømme, Petter, additional, and Frengen, Eirik, additional

Published
2023
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6. A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis

Author

Misceo, Doriana, primary, Lirussi, Lisa, additional, Strømme, Petter, additional, Sumathipala, Dulika, additional, Guerin, Andrea, additional, Wolf, Nicole I, additional, Server, Andres, additional, Stensland, Maria, additional, Dalhus, Bjørn, additional, Tolun, Aslıhan, additional, Kroes, Hester Y, additional, Nyman, Tuula A, additional, Nilsen, Hilde L, additional, and Frengen, Eirik, additional

Published
2023
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7. ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences

Author

Sumathipala, Dulika, primary, Strømme, Petter, additional, Fattahi, Zohreh, additional, Lüders, Torben, additional, Sheng, Ying, additional, Kahrizi, Kimia, additional, Einarsen, Ingunn Holm, additional, Sloan, Jennifer L, additional, Najmabadi, Hossein, additional, van den Heuvel, Lambert, additional, Wevers, Ron A, additional, Guerrero-Castillo, Sergio, additional, Mørkrid, Lars, additional, Valayannopoulos, Vassili, additional, Backe, Paul Hoff, additional, Venditti, Charles P, additional, van Karnebeek, Clara D, additional, Nilsen, Hilde, additional, Frengen, Eirik, additional, and Misceo, Doriana, additional

Published
2022
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8. Brain monoamine vesicular transport disease caused by homozygous SLC18A2variants: A study in 42 affected individuals

Author

Saida, Ken, Maroofian, Reza, Sengoku, Toru, Mitani, Tadahiro, Pagnamenta, Alistair T., Marafi, Dana, Zaki, Maha S., O’Brien, Thomas J., Karimiani, Ehsan Ghayoor, Kaiyrzhanov, Rauan, Takizawa, Marina, Ohori, Sachiko, Leong, Huey Yin, Akay, Gulsen, Galehdari, Hamid, Zamani, Mina, Romy, Ratna, Carroll, Christopher J., Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Malek, Hadis, Ahangari, Najmeh, Tomoum, Hoda, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Murphy, David, Dominik, Natalia, Elbendary, Hasnaa M., Rafat, Karima, Yilmaz, Sanem, Kanmaz, Seda, Serin, Mine, Krishnakumar, Deepa, Gardham, Alice, Maw, Anna, Rao, Tekki Sreenivasa, Alsubhi, Sarah, Srour, Myriam, Buhas, Daniela, Jewett, Tamison, Goldberg, Rachel E., Shamseldin, Hanan, Frengen, Eirik, Misceo, Doriana, Strømme, Petter, Magliocco Ceroni, José Ricardo, Kim, Chong Ae, Yesil, Gozde, Sengenc, Esma, Guler, Serhat, Hull, Mariam, Parnes, Mered, Aktas, Dilek, Anlar, Banu, Bayram, Yavuz, Pehlivan, Davut, Posey, Jennifer E., Alavi, Shahryar, Madani Manshadi, Seyed Ali, Alzaidan, Hamad, Al-Owain, Mohammad, Alabdi, Lama, Abdulwahab, Ferdous, Sekiguchi, Futoshi, Hamanaka, Kohei, Fujita, Atsushi, Uchiyama, Yuri, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Elshafie, Reem M., Salayev, Kamran, Guliyeva, Ulviyya, Alkuraya, Fowzan S., Gleeson, Joseph G., Monaghan, Kristin G., Langley, Katherine G., Yang, Hui, Motavaf, Mahsa, Safari, Saeid, Alipour, Mozhgan, Ogata, Kazuhiro, Brown, André E.X., Lupski, James R., Houlden, Henry, and Matsumoto, Naomichi

Abstract

Brain monoamine vesicular transport disease is an infantile-onset movement disorder that mimics cerebral palsy. In 2013, the homozygous SLC18A2variant, p.Pro387Leu, was first reported as a cause of this rare disorder, and dopamine agonists were efficient for treating affected individuals from a single large family. To date, only 6 variants have been reported. In this study, we evaluated genotype–phenotype correlations in individuals with biallelic SLC18A2variants.

Published
2023
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9. Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.

Author

Ortigoza-Escobar JD, Zamani M, Dorison N, Sadeghian S, Azizimalamiri R, Alvi JR, Sultan T, Galehdari H, Shariati G, Saberi A, Leeuwen L, Zifarelli G, Bauer P, d'Hardemare V, Doummar D, Roze E, Travaglini L, Nicita F, Ojea Ponce N, Zahraei SM, Alabdi L, Tamim A, Hashem MO, Ababneh F, Morrow MM, Curry C, Tam A, Ruedy J, Bhambhani V, Veith R, Strømme P, Efthymiou S, Alkuraya FS, Moreno-De-Luca A, Burglen L, Houlden H, and Maroofian R

Subjects
Adolescent, Adult, Child, Child, Preschool, Female, Humans, Male, Middle Aged, Young Adult, Neurodevelopmental Disorders genetics, Phenotype, Repressor Proteins genetics, Movement Disorders genetics
Abstract

Background: Biallelic ZBTB11 variants have previously been associated with an ultrarare subtype of autosomal recessive intellectual developmental disorder (MRT69)., Objective: The aim was to provide insights into the clinical and genetic characteristics of ZBTB11-related disorders (ZBTB11-RD), with a particular emphasis on progressive complex movement abnormalities., Methods: Thirteen new and 16 previously reported affected individuals, ranging in age from 2 to 50 years, with biallelic ZBTB11 variants underwent clinical and genetic characterization., Results: All patients exhibited a range of neurodevelopmental phenotypes with varying severity, encompassing ocular and neurological features. Eleven new patients presented with complex abnormal movements, including ataxia, dystonia, myoclonus, stereotypies, and tremor, and 7 new patients exhibited cataracts. Deep brain stimulation was successful in treating 1 patient with generalized progressive dystonia. Our analysis revealed 13 novel variants., Conclusions: This study provides additional insights into the clinical features and spectrum of ZBTB11-RD, highlighting the progressive nature of movement abnormalities in the background of neurodevelopmental phenotype., (© 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)

Published
2024
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