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Literature DB >> 26810722

Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings.

Anna Sagnelli¹, Stefania Magri¹, Laura Farina¹, Luisa Chiapparini¹, Giorgio Marotta², Davide Tonduti¹, Monica Consonni¹, Graziana Maria Scigliuolo¹, Riccardo Benti², Davide Pareyson¹, Franco Taroni¹, Ettore Salsano³, Daniela Di Bella¹.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2016 PMID： 26810722 DOI： 10.1007/s00415-016-8020-8

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

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10 in total

1. Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.

Authors: Satoko Miyatake; Hitoshi Osaka; Masaaki Shiina; Masayuki Sasaki; Jun-Ichi Takanashi; Kazuhiro Haginoya; Takahito Wada; Masafumi Morimoto; Naoki Ando; Yoji Ikuta; Mitsuko Nakashima; Yoshinori Tsurusaki; Noriko Miyake; Kazuhiro Ogata; Naomichi Matsumoto; Hirotomo Saitsu
Journal: Neurology Date: 2014-05-21 Impact factor: 9.910

2. Age-related iron deposition in the basal ganglia: quantitative analysis in healthy subjects.

Authors: Domenico Aquino; Alberto Bizzi; Marina Grisoli; Barbara Garavaglia; Maria Grazia Bruzzone; Nardo Nardocci; Mario Savoiardo; Luisa Chiapparini
Journal: Radiology Date: 2009-07 Impact factor: 11.105

3. Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.

Authors: Dahlia Kancheva; Teodora Chamova; Velina Guergueltcheva; Vanio Mitev; Dimitar N Azmanov; Luba Kalaydjieva; Ivailo Tournev; Albena Jordanova
Journal: Mov Disord Date: 2015-03-15 Impact factor: 10.338

4. TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.

Authors: Daniel Carvalho; Savana Santos; Bernardo Martins; Fernanda Pinto Marques
Journal: Brain Date: 2014-08-27 Impact factor: 13.501

5. Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

Authors: Eline M Hamilton; Emiel Polder; Adeline Vanderver; Sakkubai Naidu; Raphael Schiffmann; Kate Fisher; Ana Boban Raguž; Luba Blumkin; Carola G M van Berkel; Quinten Waisfisz; Cas Simons; Ryan J Taft; Truus E M Abbink; Nicole I Wolf; Marjo S van der Knaap
Journal: Brain Date: 2014-04-30 Impact factor: 13.501

6. TUBB4A de novo mutations cause isolated hypomyelination.

Authors: Amy Pizzino; Tyler Mark Pierson; Yiran Guo; Guy Helman; Sebastian Fortini; Kether Guerrero; Sulagna Saitta; Jennifer Louise Patrick Murphy; Quasar Padiath; Yi Xie; Hakon Hakonarson; Xun Xu; Tara Funari; Michelle Fox; Ryan J Taft; Marjo S van der Knaap; Geneviève Bernard; Raphael Schiffmann; Cas Simons; Adeline Vanderver
Journal: Neurology Date: 2014-08-01 Impact factor: 9.910

Review 7. Diaschisis: past, present, future.

Authors: Emmanuel Carrera; Giulio Tononi
Journal: Brain Date: 2014-05-28 Impact factor: 13.501

8. Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology.

Authors: M S van der Knaap; T Linnankivi; A Paetau; A Feigenbaum; K Wakusawa; K Haginoya; W Köhler; M Henneke; A Dinopoulos; P Grattan-Smith; K Brockmann; R Schiffmann; S Blaser
Journal: Neurology Date: 2007-07-10 Impact factor: 9.910

Review 9. Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories.

Authors: C E Arber; A Li; H Houlden; S Wray
Journal: Neuropathol Appl Neurobiol Date: 2015-06-02 Impact factor: 8.090

10. Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

Authors: Joshua Hersheson; Niccolo E Mencacci; Mary Davis; Nicola MacDonald; Daniah Trabzuni; Mina Ryten; Alan Pittman; Reema Paudel; Eleanna Kara; Katherine Fawcett; Vincent Plagnol; Kailash P Bhatia; Alan J Medlar; Horia C Stanescu; John Hardy; Robert Kleta; Nicholas W Wood; Henry Houlden
Journal: Ann Neurol Date: 2013-02-19 Impact factor: 10.422

10 in total

5 in total

Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings.

1. Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.

2. Age-related iron deposition in the basal ganglia: quantitative analysis in healthy subjects.

3. Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.

4. TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.

5. Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

6. TUBB4A de novo mutations cause isolated hypomyelination.

Review 7. Diaschisis: past, present, future.

8. Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology.

Review 9. Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories.

10. Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

1. Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.

2. A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia.

3. A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.

4. In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.

Review 5. Microtubule Dysfunction: A Common Feature of Neurodegenerative Diseases.