All papers authored by Henry Houlden
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2024
Rauan Kaiyrzhanov 
,
Juan Darío Ortigoza‐Escobar ,
Brett W. Stringer ,
Manizha Ganieva,
Vykuntaraju K. Gowda ,
Varunvenkat M. Srinivasan,
Alfons Macaya ,
Andreas Laner ,
Enas Onbool,
Randa Al‐Shammari,
Mohammed Al‐Owain,
Nicolas Deconinck ,
Catheline Vilain,
Pauline Dontaine,
Eleanor Self
and 15 other authors
,
Juan Darío Ortigoza‐Escobar ,
Brett W. Stringer ,
Manizha Ganieva,
Vykuntaraju K. Gowda ,
Varunvenkat M. Srinivasan,
Alfons Macaya ,
Andreas Laner ,
Enas Onbool,
Randa Al‐Shammari,
Mohammed Al‐Owain,
Nicolas Deconinck ,
Catheline Vilain,
Pauline Dontaine,
Eleanor Self
and 15 other authors
Clinical and Molecular Spectrum of Autosomal Recessive CA8‐Related Cerebellar Ataxia
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2023
Ilaria Quartesan,
Adolfo López de Munain,
Elisa Vegezzi ,
Riccardo Currò,
Amanda Heslegrave,
Chiara Pisciotta,
Pablo Iruzubieta,
Alessandro Salvalaggio,
Gorka Fernández‐Eulate,
Natalia Dominik,
Bianca Rugginini,
Arianna Manini,
Elena Abati,
Stefano Facchini,
Katarina Manso
and 19 other authors
,
Riccardo Currò,
Amanda Heslegrave,
Chiara Pisciotta,
Pablo Iruzubieta,
Alessandro Salvalaggio,
Gorka Fernández‐Eulate,
Natalia Dominik,
Bianca Rugginini,
Arianna Manini,
Elena Abati,
Stefano Facchini,
Katarina Manso
and 19 other authors
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum
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Thomas B. Smith ,
Alessandro Rea ,
Huw B. Thomas,
Kyle Thompson,
Monika Oláhová,
Reza Maroofian ,
Mina Zamani,
Langping He,
Saeid Sadeghian ,
Hamid Galehdari,
Nava Shaul Lotan,
Tal Gilboa ,
Kristin C. Herman,
Thomas J. McCorvie ,
Wyatt W. Yue
and 4 other authors
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,
Alessandro Rea ,
Huw B. Thomas,
Kyle Thompson,
Monika Oláhová,
Reza Maroofian ,
Mina Zamani,
Langping He,
Saeid Sadeghian ,
Hamid Galehdari,
Nava Shaul Lotan,
Tal Gilboa ,
Kristin C. Herman,
Thomas J. McCorvie ,
Wyatt W. Yue
and 4 other authors
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Lindsay A. Wilson ,
William L. Macken ,
Luke D. Perry,
Christopher J. Record ,
Katherine R. Schon ,
Rodrigo S. S. Frezatti ,
Sharika Raga ,
Kireshnee Naidu ,
Özlem Yayıcı Köken,
Ipek Polat,
Musambo M. Kapapa,
Natalia Dominik,
Stephanie Efthymiou ,
Heba Morsy ,
Melissa Nel
and 67 other authors
,
William L. Macken ,
Luke D. Perry,
Christopher J. Record ,
Katherine R. Schon ,
Rodrigo S. S. Frezatti ,
Sharika Raga ,
Kireshnee Naidu ,
Özlem Yayıcı Köken,
Ipek Polat,
Musambo M. Kapapa,
Natalia Dominik,
Stephanie Efthymiou ,
Heba Morsy ,
Melissa Nel
and 67 other authors
Neuromuscular disease genetics in under-represented populations: increasing data diversity
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Duncan Street ,
Edwin Jabbari ,
Alyssa Costantini,
P. Simon Jones,
Negin Holland,
Timothy Rittman ,
Marte T. Jensen,
Viorica Chelban ,
Yen Y. Goh,
Tong Guo,
Amanda J. Heslegrave,
Federico Roncaroli,
Johannes C. Klein,
Olaf Ansorge,
Kieren S. J. Allinson
and 18 other authors
,
Edwin Jabbari ,
Alyssa Costantini,
P. Simon Jones,
Negin Holland,
Timothy Rittman ,
Marte T. Jensen,
Viorica Chelban ,
Yen Y. Goh,
Tong Guo,
Amanda J. Heslegrave,
Federico Roncaroli,
Johannes C. Klein,
Olaf Ansorge,
Kieren S. J. Allinson
and 18 other authors
Progression of atypical parkinsonian syndromes: PROSPECT-M-UK study implications for clinical trials
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Lindsey Van Haute ,
Emily O’Connor,
Héctor Díaz-Maldonado,
Benjamin Munro,
Kiran Polavarapu ,
Daniella H. Hock ,
Gautham Arunachal,
Alkyoni Athanasiou-Fragkouli,
Mainak Bardhan ,
Magalie Barth,
Dominique Bonneau,
Nicola Brunetti-Pierri ,
Gerarda Cappuccio,
Nikeisha J. Caruana ,
Natalia Dominik
and 26 other authors
,
Emily O’Connor,
Héctor Díaz-Maldonado,
Benjamin Munro,
Kiran Polavarapu ,
Daniella H. Hock ,
Gautham Arunachal,
Alkyoni Athanasiou-Fragkouli,
Mainak Bardhan ,
Magalie Barth,
Dominique Bonneau,
Nicola Brunetti-Pierri ,
Gerarda Cappuccio,
Nikeisha J. Caruana ,
Natalia Dominik
and 26 other authors
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
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Afshin Saffari,
Tracy Lau ,
Homa Tajsharghi,
Ehsan Ghayoor Karimiani,
Ariana Kariminejad,
Stephanie Efthymiou ,
Giovanni Zifarelli,
Tipu Sultan,
Mehran Beiraghi Toosi,
Sahar Sedighzadeh,
Victoria Mok Siu,
Juan Darío Ortigoza-Escobar,
Aisha M. AlShamsi,
Shahnaz Ibrahim,
Nouriya Abbas Al-Sannaa
and 87 other authors
,
Homa Tajsharghi,
Ehsan Ghayoor Karimiani,
Ariana Kariminejad,
Stephanie Efthymiou ,
Giovanni Zifarelli,
Tipu Sultan,
Mehran Beiraghi Toosi,
Sahar Sedighzadeh,
Victoria Mok Siu,
Juan Darío Ortigoza-Escobar,
Aisha M. AlShamsi,
Shahnaz Ibrahim,
Nouriya Abbas Al-Sannaa
and 87 other authors
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
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Riccardo Ronco,
Cecilia Perini,
Riccardo Currò,
Natalia Dominik,
Stefano Facchini,
Alice Gennari,
Roberto Simone,
Skye Stuart,
Sara Nagy,
Elisa Vegezzi ,
Ilaria Quartesan,
Amar El-Saddig,
Timothy Lavin,
Arianna Tucci,
Agnieszka Szymura
and 19 other authors
,
Ilaria Quartesan,
Amar El-Saddig,
Timothy Lavin,
Arianna Tucci,
Agnieszka Szymura
and 19 other authors
Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
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2022
Fubo Cheng ,
Wenxu Zheng,
Chang Liu ,
Peter Antony Barbuti ,
Libo Yu-Taeger,
Nicolas Casadei ,
Jeannette Huebener-Schmid ,
Jakob Admard ,
Karsten Boldt ,
Katrin Junger ,
Marius Ueffing,
Henry Houlden ,
Manu Sharma,
Rejko Kruger ,
Kathrin Grundmann-Hauser
and 2 other authors
,
Wenxu Zheng,
Chang Liu ,
Peter Antony Barbuti ,
Libo Yu-Taeger,
Nicolas Casadei ,
Jeannette Huebener-Schmid ,
Jakob Admard ,
Karsten Boldt ,
Katrin Junger ,
Marius Ueffing,
Henry Houlden ,
Manu Sharma,
Rejko Kruger ,
Kathrin Grundmann-Hauser
and 2 other authors
Intronic enhancers of the human SNCA gene predominantly regulate its expression in brain in vivo
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Njideka U. Okubadejo ,
Olaitan Okunoye,
Oluwadamilola O. Ojo ,
Babawale Arabambi ,
Rufus O. Akinyemi,
Godwin O. Osaigbovo,
Sani A. Abubakar,
Emmanuel U. Iwuozo,
Kolawole W. Wahab,
Osigwe P. Agabi,
Uchechi Agulanna,
Frank A. Imarhiagbe,
Oladunni V. Abiodun,
Charles O. Achoru,
Akintunde A. Adebowale
and 36 other authors
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,
Olaitan Okunoye,
Oluwadamilola O. Ojo ,
Babawale Arabambi ,
Rufus O. Akinyemi,
Godwin O. Osaigbovo,
Sani A. Abubakar,
Emmanuel U. Iwuozo,
Kolawole W. Wahab,
Osigwe P. Agabi,
Uchechi Agulanna,
Frank A. Imarhiagbe,
Oladunni V. Abiodun,
Charles O. Achoru,
Akintunde A. Adebowale
and 36 other authors
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Enrico Mingardo,
Glenda Beaman,
Philip Grote ,
Agneta Nordenskjöld,
William Newman ,
Adrian S. Woolf ,
Markus Eckstein ,
Alina C. Hilger,
Gabriel C. Dworschak ,
Wolfgang Rösch,
Anne-Karolin Ebert,
Raimund Stein,
Alfredo Brusco ,
Massimo Di Grazia ,
Ali Tamer
and 51 other authors
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,
Agneta Nordenskjöld,
William Newman ,
Adrian S. Woolf ,
Markus Eckstein ,
Alina C. Hilger,
Gabriel C. Dworschak ,
Wolfgang Rösch,
Anne-Karolin Ebert,
Raimund Stein,
Alfredo Brusco ,
Massimo Di Grazia ,
Ali Tamer
and 51 other authors
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Ben Gaastra ,
Sheila Alexander ,
Mark K. Bakker ,
Hemant Bhagat ,
Philippe Bijlenga ,
Spiros L. Blackburn ,
Malie K. Collins ,
Sylvain Doré ,
Christoph J. Griessenauer ,
Philipp Hendrix ,
Eun Pyo Hong ,
Isabel C. Hostettler ,
Henry Houlden ,
Koji IIhara ,
Jin Pyeong Jeon
and 10 other authors
Download from link.springer.com
,
Sheila Alexander ,
Mark K. Bakker ,
Hemant Bhagat ,
Philippe Bijlenga ,
Spiros L. Blackburn ,
Malie K. Collins ,
Sylvain Doré ,
Christoph J. Griessenauer ,
Philipp Hendrix ,
Eun Pyo Hong ,
Isabel C. Hostettler ,
Henry Houlden ,
Koji IIhara ,
Jin Pyeong Jeon
and 10 other authors
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Isabel Charlotte Hostettler ,
David Seiffge ,
Andrew Wong,
Gareth Ambler,
Duncan Wilson,
Clare Shakeshaft,
Gargi Banerjee ,
Nikhil Sharma ,
Hans Rolf Jäger ,
Hannah Cohen,
Tarek A. Yousry,
Rustam Al-Shahi Salman ,
Gregory Y. H. Lip ,
Martin M. Brown,
Keith Muir
and 2 other authors
,
David Seiffge ,
Andrew Wong,
Gareth Ambler,
Duncan Wilson,
Clare Shakeshaft,
Gargi Banerjee ,
Nikhil Sharma ,
Hans Rolf Jäger ,
Hannah Cohen,
Tarek A. Yousry,
Rustam Al-Shahi Salman ,
Gregory Y. H. Lip ,
Martin M. Brown,
Keith Muir
and 2 other authors
APOE and Cerebral Small Vessel Disease Markers in Patients With Intracerebral Hemorrhage
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Ekawat Vichayanrat,
Fernanda Valerio ,
Shiwen Koay ,
Eduardo De Pablo-Fernandez ,
Jalesh Panicker,
Huw Morris ,
Kailash Bhatia ,
Viorica Chelban,
Henry Houlden ,
Niall Quinn,
Judith Navarro-Otano,
Yasuo Miki,
Janice Holton,
Thomas Warner,
Christopher Mathias
and 1 other authors
,
Shiwen Koay ,
Eduardo De Pablo-Fernandez ,
Jalesh Panicker,
Huw Morris ,
Kailash Bhatia ,
Viorica Chelban,
Henry Houlden ,
Niall Quinn,
Judith Navarro-Otano,
Yasuo Miki,
Janice Holton,
Thomas Warner,
Christopher Mathias
and 1 other authors
Diagnosing Premotor Multiple System Atrophy
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Marc P. M. Soutar ,
Daniela Melandri ,
Benjamin O’Callaghan ,
Emily Annuario ,
Amy E. Monaghan ,
Natalie J. Welsh ,
Karishma D’Sa,
Sebastian Guelfi ,
David Zhang ,
Alan Pittman ,
Daniah Trabzuni ,
Anouk H. A. Verboven ,
Kylie S. Pan ,
Demis A. Kia,
Magda Bictash
and 14 other authors
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,
Daniela Melandri ,
Benjamin O’Callaghan ,
Emily Annuario ,
Amy E. Monaghan ,
Natalie J. Welsh ,
Karishma D’Sa,
Sebastian Guelfi ,
David Zhang ,
Alan Pittman ,
Daniah Trabzuni ,
Anouk H. A. Verboven ,
Kylie S. Pan ,
Demis A. Kia,
Magda Bictash
and 14 other authors
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