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
Reza Maroofian ,
Rauan Kaiyrzhanov ,
Elisa Cali,
Mina Zamani ,
Maha S. Zaki,
Matteo Ferla ,
Domenico Tortora ,
Saeid Sadeghian ,
Saadia Maryam Saadi,
Uzma Abdullah,
Ehsan Ghayoor Karimiani,
Stephanie Efthymiou ,
Gözde Yeşil,
Shahryar Alavi,
Aisha M. Al Shamsi
and 71 other authors
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,
Rauan Kaiyrzhanov ,
Elisa Cali,
Mina Zamani ,
Maha S. Zaki,
Matteo Ferla ,
Domenico Tortora ,
Saeid Sadeghian ,
Saadia Maryam Saadi,
Uzma Abdullah,
Ehsan Ghayoor Karimiani,
Stephanie Efthymiou ,
Gözde Yeşil,
Shahryar Alavi,
Aisha M. Al Shamsi
and 71 other authors
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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 18 other authors
,
Ilaria Quartesan,
Amar El-Saddig,
Timothy Lavin,
Arianna Tucci,
Agnieszka Szymura
and 18 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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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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Viorica Chelban ,
Elham Nikram,
Alexandra Perez-Soriano,
Carlo Wilke ,
Alexandra Foubert-Samier,
Nirosen Vijiaratnam ,
Tong Guo,
Edwin Jabbari ,
Simisola Olufodun,
Mariel Gonzalez,
Konstantin Senkevich,
Brice Laurens,
Patrice Péran ,
Olivier Rascol,
Anne Pavy Le Traon
and 35 other authors
,
Elham Nikram,
Alexandra Perez-Soriano,
Carlo Wilke ,
Alexandra Foubert-Samier,
Nirosen Vijiaratnam ,
Tong Guo,
Edwin Jabbari ,
Simisola Olufodun,
Mariel Gonzalez,
Konstantin Senkevich,
Brice Laurens,
Patrice Péran ,
Olivier Rascol,
Anne Pavy Le Traon
and 35 other authors
Neurofilament light levels predict clinical progression and death in multiple system atrophy
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Keit Men Wong ,
Wayne M. Jepsen,
Stephanie Efthymiou,
Vincenzo Salpietro,
Meredith Sanchez-Castillo,
Janice Yip,
Yamna Kriouile,
Susann Diegmann ,
Steffi Dreha-Kulaczewski,
Janine Altmüller ,
Holger Thiele,
Peter Nürnberg ,
Mehran Beiraghi Toosi,
Javad Akhondian,
Ehsan Ghayoor Karimiani
and 6 other authors
,
Wayne M. Jepsen,
Stephanie Efthymiou,
Vincenzo Salpietro,
Meredith Sanchez-Castillo,
Janice Yip,
Yamna Kriouile,
Susann Diegmann ,
Steffi Dreha-Kulaczewski,
Janine Altmüller ,
Holger Thiele,
Peter Nürnberg ,
Mehran Beiraghi Toosi,
Javad Akhondian,
Ehsan Ghayoor Karimiani
and 6 other authors
Mutations inTAF8cause a neurodegenerative disorder
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Nirosen Vijiaratnam ,
Michael Lawton ,
Amanda J. Heslegrave ,
Tong Guo ,
Manuela Tan ,
Edwin Jabbari ,
Raquel Real ,
John Woodside,
Katherine Grosset,
Viorica Chelban ,
Dilan Athauda ,
Christine Girges ,
Roger A. Barker ,
John Hardy,
Nicholas Wood
and 7 other authors
,
Michael Lawton ,
Amanda J. Heslegrave ,
Tong Guo ,
Manuela Tan ,
Edwin Jabbari ,
Raquel Real ,
John Woodside,
Katherine Grosset,
Viorica Chelban ,
Dilan Athauda ,
Christine Girges ,
Roger A. Barker ,
John Hardy,
Nicholas Wood
and 7 other authors
Combining biomarkers for prognostic modelling of Parkinson’s disease
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Igor Stevanovski ,
Sanjog R. Chintalaphani ,
Hasindu Gamaarachchi ,
James M. Ferguson ,
Sandy S. Pineda ,
Carolin K. Scriba,
Michel Tchan ,
Victor Fung ,
Karl Ng ,
Andrea Cortese,
Henry Houlden ,
Carol Dobson-Stone ,
Lauren Fitzpatrick,
Glenda Halliday ,
Gianina Ravenscroft
and 6 other authors
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,
Sanjog R. Chintalaphani ,
Hasindu Gamaarachchi ,
James M. Ferguson ,
Sandy S. Pineda ,
Carolin K. Scriba,
Michel Tchan ,
Victor Fung ,
Karl Ng ,
Andrea Cortese,
Henry Houlden ,
Carol Dobson-Stone ,
Lauren Fitzpatrick,
Glenda Halliday ,
Gianina Ravenscroft
and 6 other authors
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Chiara Klöckner ,
J. Pedro Fernández-Murray ,
Mahtab Tavasoli ,
Heinrich Sticht ,
Gisela Stoltenburg-Didinger ,
Leila Motlagh Scholle ,
Somayeh Bakhtiari,
Michael C. Kruer ,
Hossein Darvish,
Saghar Ghasemi Firouzabadi ,
Alex Pagnozzi,
Anju Shukla ,
Katta Mohan Girisha ,
Dhanya Lakshmi Narayanan ,
Parneet Kaur
and 14 other authors
,
J. Pedro Fernández-Murray ,
Mahtab Tavasoli ,
Heinrich Sticht ,
Gisela Stoltenburg-Didinger ,
Leila Motlagh Scholle ,
Somayeh Bakhtiari,
Michael C. Kruer ,
Hossein Darvish,
Saghar Ghasemi Firouzabadi ,
Alex Pagnozzi,
Anju Shukla ,
Katta Mohan Girisha ,
Dhanya Lakshmi Narayanan ,
Parneet Kaur
and 14 other authors
Bi-allelic variants inCHKAcause a neurodevelopmental disorder with epilepsy and microcephaly
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Fubo Cheng ,
Wenxu Zheng,
Peter Antony Barbuti ,
Paola Bonsi,
Chang Liu ,
Nicolas Casadei,
Giulia Ponterio,
Maria Meringolo,
Jakob Admard,
Claire Marie Dording,
Libo Yu-Taeger,
Huu Phuc Nguyen,
Kathrin Grundmann-Hauser,
Thomas Ott,
Henry Houlden
and 3 other authors
,
Wenxu Zheng,
Peter Antony Barbuti ,
Paola Bonsi,
Chang Liu ,
Nicolas Casadei,
Giulia Ponterio,
Maria Meringolo,
Jakob Admard,
Claire Marie Dording,
Libo Yu-Taeger,
Huu Phuc Nguyen,
Kathrin Grundmann-Hauser,
Thomas Ott,
Henry Houlden
and 3 other authors
DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family
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2021
Macarena Cabrera-Serrano ,
Laure Caccavelli,
Marco Savarese ,
Anna Vihola,
Manu Jokela,
Mridul Johari ,
Thierry Capiod,
Marine Madrange,
Enrico Bugiardini ,
Stefen Brady,
Rosaline Quinlivan,
Ashirwad Merve,
Renata Scalco,
David Hilton-Jones,
Henry Houlden
and 24 other authors
,
Laure Caccavelli,
Marco Savarese ,
Anna Vihola,
Manu Jokela,
Mridul Johari ,
Thierry Capiod,
Marine Madrange,
Enrico Bugiardini ,
Stefen Brady,
Rosaline Quinlivan,
Ashirwad Merve,
Renata Scalco,
David Hilton-Jones,
Henry Houlden
and 24 other authors
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis
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Katherine R. Schon ,
Rita Horvath,
Wei Wei,
Claudia Calabrese,
Arianna Tucci,
Kristina Ibañez,
Thiloka Ratnaike,
Robert D. S. Pitceathly,
Enrico Bugiardini,
Rosaline Quinlivan,
Michael G. Hanna,
Emma Clement,
Emma Ashton,
John A. Sayer,
Paul Brennan
and 15 other authors
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,
Rita Horvath,
Wei Wei,
Claudia Calabrese,
Arianna Tucci,
Kristina Ibañez,
Thiloka Ratnaike,
Robert D. S. Pitceathly,
Enrico Bugiardini,
Rosaline Quinlivan,
Michael G. Hanna,
Emma Clement,
Emma Ashton,
John A. Sayer,
Paul Brennan
and 15 other authors
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Riccardo Currò,
Alessandro Salvalaggio ,
Stefano Tozza,
Chiara Gemelli,
Natalia Dominik,
Valentina Galassi Deforie,
Valentina Galassi Deforie,
Francesca Magrinelli ,
Francesca Castellani,
Elisa Vegezzi,
Pietro Businaro ,
Ilaria Callegari ,
Anna Pichiecchio,
Giuseppe Cosentino,
Enrico Alfonsi
and 27 other authors
,
Stefano Tozza,
Chiara Gemelli,
Natalia Dominik,
Valentina Galassi Deforie,
Valentina Galassi Deforie,
Francesca Magrinelli ,
Francesca Castellani,
Elisa Vegezzi,
Pietro Businaro ,
Ilaria Callegari ,
Anna Pichiecchio,
Giuseppe Cosentino,
Enrico Alfonsi
and 27 other authors
RFC1 expansions are a common cause of idiopathic sensory neuropathy
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