Literature DB >> 28120039

Long-term follow-up in spastic paraplegia due to SPG56/CYP2U1: age-dependency rather than genetic variability?

Alessandro Iodice1, Celeste Panteghini2, Carlotta Spagnoli3, Grazia Gabriella Salerno3, Daniele Frattini3, Carmela Russo4, Barbara Garavaglia2, Carlo Fusco3.   

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Year:  2017        PMID: 28120039     DOI: 10.1007/s00415-017-8393-3

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


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  6 in total

1.  Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family.

Authors:  Luca Leonardi; Lucia Ziccardi; Christian Marcotulli; Anna Rubegni; Antonino Longobardi; Mariano Serrao; Eugenia Storti; Francesco Pierelli; Alessandra Tessa; Vincenzo Parisi; Filippo M Santorelli; Casali Carlo
Journal:  J Neurol       Date:  2016-02-25       Impact factor: 4.849

2.  SPG46 and SPG56 are rare causes of hereditary spastic paraplegia in China.

Authors:  Yi-Jing Yang; Zhi-Fan Zhou; Xin-Xin Liao; Ying-Ying Luo; Zi-Xiong Zhan; Mu-Fang Huang; Lu Zhou; Bei-Sha Tang; Lu Shen; Juan Du
Journal:  J Neurol       Date:  2016-08-23       Impact factor: 4.849

3.  Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.

Authors:  Andrea Citterio; Alessia Arnoldi; Elena Panzeri; Maria Grazia D'Angelo; Massimiliano Filosto; Robertino Dilena; Filippo Arrigoni; Marianna Castelli; Cristina Maghini; Chiara Germiniasi; Francesca Menni; Andrea Martinuzzi; Nereo Bresolin; Maria Teresa Bassi
Journal:  J Neurol       Date:  2013-12-13       Impact factor: 4.849

4.  Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56.

Authors:  M Masciullo; A Tessa; S Perazza; F M Santorelli; A Perna; G Silvestri
Journal:  Eur J Paediatr Neurol       Date:  2016-02-18       Impact factor: 3.140

5.  CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia.

Authors:  A Kariminejad; L Schöls; R Schüle; S H Tonekaboni; A Abolhassani; M Fadaee; R O Rosti; J G Gleeson
Journal:  Eur J Paediatr Neurol       Date:  2016-06-02       Impact factor: 3.140

6.  Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

Authors:  Christelle Tesson; Magdalena Nawara; Mustafa A M Salih; Rodrigue Rossignol; Maha S Zaki; Mohammed Al Balwi; Rebecca Schule; Cyril Mignot; Emilie Obre; Ahmed Bouhouche; Filippo M Santorelli; Christelle M Durand; Andrés Caballero Oteyza; Khalid H El-Hachimi; Abdulmajeed Al Drees; Naima Bouslam; Foudil Lamari; Salah A Elmalik; Mohammad M Kabiraj; Mohammed Z Seidahmed; Typhaine Esteves; Marion Gaussen; Marie-Lorraine Monin; Gabor Gyapay; Doris Lechner; Michael Gonzalez; Christel Depienne; Fanny Mochel; Julie Lavie; Ludger Schols; Didier Lacombe; Mohamed Yahyaoui; Ibrahim Al Abdulkareem; Stephan Zuchner; Atsushi Yamashita; Ali Benomar; Cyril Goizet; Alexandra Durr; Joseph G Gleeson; Frederic Darios; Alexis Brice; Giovanni Stevanin
Journal:  Am J Hum Genet       Date:  2012-11-21       Impact factor: 11.025

  6 in total
  3 in total

1.  Encephalopathies with intracranial calcification in children: clinical and genetic characterization.

Authors:  Davide Tonduti; Celeste Panteghini; Anna Pichiecchio; Alice Decio; Miryam Carecchio; Chiara Reale; Isabella Moroni; Nardo Nardocci; Jaume Campistol; Angela Garcia-Cazorla; Belen Perez Duenas; Luisa Chiapparini; Barbara Garavaglia; Simona Orcesi
Journal:  Orphanet J Rare Dis       Date:  2018-08-16       Impact factor: 4.123

2.  Implication of folate deficiency in CYP2U1 loss of function.

Authors:  Anne Legrand; Livia Parodi; Claire Pujol; Priscilla Thomas; Fanny Mochel; Dario Saracino; Giulia Coarelli; Marijana Croon; Milica Popovic; Manon Valet; Nicolas Villain; Shahira Elshafie; Mahmoud Issa; Stephane Zuily; Mathilde Renaud; Cécilia Marelli-Tosi; Marine Legendre; Aurélien Trimouille; Isabelle Kemlin; Sophie Mathieu; Joseph G Gleeson; Foudil Lamari; Daniele Galatolo; Rana Alkouri; Chantal Tse; Diana Rodriguez; Claire Ewenczyk; Florence Fellmann; Thierry Kuntzer; Emilie Blond; Khalid H El Hachimi; Frédéric Darios; Alexandre Seyer; Anastasia D Gazi; Patrick Giavalisco; Silvina Perin; Jean-Luc Boucher; Laurent Le Corre; Filippo M Santorelli; Cyril Goizet; Maha S Zaki; Serge Picaud; Arnaud Mourier; Sophie Marie Steculorum; Cyril Mignot; Alexandra Durr; Aleksandra Trifunovic; Giovanni Stevanin
Journal:  J Exp Med       Date:  2021-09-21       Impact factor: 14.307

3.  Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report.

Authors:  Carlotta Spagnoli; Susanna Rizzi; Grazia Gabriella Salerno; Daniele Frattini; Carlo Fusco
Journal:  Ital J Pediatr       Date:  2019-12-03       Impact factor: 2.638

  3 in total

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