Literature DB >> 31157359

De novo SPAST mutations may cause a complex SPG4 phenotype.

Jolanda H Schieving1, Susanne T de Bot2, Laura A van de Pol3, Nicole I Wolf3,4, Eva H Brilstra5, Suzanna G Frints6,7, Judith van Gaalen8, Mala Misra-Isrie9, Maartje Pennings10, Corien C Verschuuren-Bemelmans11, Erik-Jan Kamsteeg10, Bart P van de Warrenburg8, Michèl A Willemsen1.   

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Year:  2019        PMID: 31157359     DOI: 10.1093/brain/awz140

Source DB:  PubMed          Journal:  Brain        ISSN: 0006-8950            Impact factor:   13.501


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  7 in total

1.  Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4.

Authors:  Francisco Grandas; Manuel Desco; Francisco J Navas-Sánchez; Alberto Fernández-Pena; Daniel Martín de Blas; Yasser Alemán-Gómez; Luís Marcos-Vidal; Juan A Guzmán-de-Villoria; Pilar Fernández-García; Julia Romero; Irene Catalina; Laura Lillo; José L Muñoz-Blanco; Andrés Ordoñez-Ugalde; Beatriz Quintáns; Julio Pardo; María-Jesús Sobrido; Susanna Carmona
Journal:  J Neurol       Date:  2021-01-28       Impact factor: 4.849

2.  A p.Glu420Gln mutation in SPAST is associated with infantile onset spastic paraplegia complicated by cerebella ataxia, epilepsy, peripheral neuropathy, and hypoplasia of the corpus callosum.

Authors:  Haitian Nan; Tomoko Mizuno; Atsuko Arisaka; Kenshi Sei; Yoshihisa Takiyama
Journal:  Neurol Sci       Date:  2022-01-12       Impact factor: 3.307

3.  Monogenic variants in dystonia: an exome-wide sequencing study.

Authors:  Michael Zech; Robert Jech; Sylvia Boesch; Matej Škorvánek; Sandrina Weber; Matias Wagner; Chen Zhao; Angela Jochim; Ján Necpál; Yasemin Dincer; Katharina Vill; Felix Distelmaier; Malgorzata Stoklosa; Martin Krenn; Stephan Grunwald; Tobias Bock-Bierbaum; Anna Fečíková; Petra Havránková; Jan Roth; Iva Příhodová; Miriam Adamovičová; Olga Ulmanová; Karel Bechyně; Pavlína Danhofer; Branislav Veselý; Vladimír Haň; Petra Pavelekova; Zuzana Gdovinová; Tobias Mantel; Tobias Meindl; Alexandra Sitzberger; Sebastian Schröder; Astrid Blaschek; Timo Roser; Michaela V Bonfert; Edda Haberlandt; Barbara Plecko; Birgit Leineweber; Steffen Berweck; Thomas Herberhold; Berthold Langguth; Jana Švantnerová; Michal Minár; Gonzalo Alonso Ramos-Rivera; Monica H Wojcik; Sander Pajusalu; Katrin Õunap; Ulrich A Schatz; Laura Pölsler; Ivan Milenkovic; Franco Laccone; Veronika Pilshofer; Roberto Colombo; Steffi Patzer; Arcangela Iuso; Julia Vera; Monica Troncoso; Fang Fang; Holger Prokisch; Friederike Wilbert; Matthias Eckenweiler; Elisabeth Graf; Dominik S Westphal; Korbinian M Riedhammer; Theresa Brunet; Bader Alhaddad; Riccardo Berutti; Tim M Strom; Martin Hecht; Matthias Baumann; Marc Wolf; Aida Telegrafi; Richard E Person; Francisca Millan Zamora; Lindsay B Henderson; David Weise; Thomas Musacchio; Jens Volkmann; Anna Szuto; Jessica Becker; Kirsten Cremer; Thomas Sycha; Fritz Zimprich; Verena Kraus; Christine Makowski; Pedro Gonzalez-Alegre; Tanya M Bardakjian; Laurie J Ozelius; Annalisa Vetro; Renzo Guerrini; Esther Maier; Ingo Borggraefe; Alice Kuster; Saskia B Wortmann; Annette Hackenberg; Robert Steinfeld; Birgit Assmann; Christian Staufner; Thomas Opladen; Evžen Růžička; Ronald D Cohn; David Dyment; Wendy K Chung; Hartmut Engels; Andres Ceballos-Baumann; Rafal Ploski; Oliver Daumke; Bernhard Haslinger; Volker Mall; Konrad Oexle; Juliane Winkelmann
Journal:  Lancet Neurol       Date:  2020-11       Impact factor: 44.182

4.  Evidence of mosaicism in SPAST variant carriers in four French families.

Authors:  Chloé Angelini; Cyril Goizet; Samia Ait Said; William Camu; Christel Depienne; Bénédicte Heron; Bophara Kol; Marine Guillaud-Bataille; Perrine Pennamen; Caroline Rooryck; Clarisse Scherer-Gagou; Laurène Tissier; Giovanni Stevanin; Eric Leguern; Guillaume Banneau
Journal:  Eur J Hum Genet       Date:  2021-05-06       Impact factor: 5.351

5.  A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene.

Authors:  Haitian Nan; Kensho Okamoto; Lihua Gao; Yuto Morishima; Yuta Ichinose; Kishin Koh; Masaki Hashiyada; Noboru Adachi; Yoshihisa Takiyama
Journal:  Intern Med       Date:  2020-06-09       Impact factor: 1.271

6.  De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy.

Authors:  Aristides Hadjinicolaou; Kathie J Ngo; Daniel Y Conway; John P Provias; Steven K Baker; Lauren I Brady; Craig L Bennett; Albert R La Spada; Brent L Fogel; Grace Yoon
Journal:  Acta Neuropathol Commun       Date:  2021-12-18       Impact factor: 7.801

7.  Rapidly Progressive Behavioral Syndrome Without Spastic Paraplegia in a Patient With SPAST p.Pro26Thr Variant.

Authors:  Faheem Arshad; Suvarna Alladi; Karthik Kulanthaivelu
Journal:  Dement Neurocogn Disord       Date:  2022-04-30
  7 in total

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