Literature DB >> 28568317

Two FMR1 premutation cases without nuclear inclusions.

Verónica Martínez-Cerdeño1,2, Mirna Lechpammer1, Paul J Hagerman2,3, Randi Hagerman2,4.   

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Year:  2017        PMID： 28568317      PMCID： PMC5714313          DOI： 10.1002/mds.27060

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  7 in total

1.  A Majority of FXTAS Cases Present with Intranuclear Inclusions Within Purkinje Cells.

Authors:  Jeanelle Ariza; Hailee Rogers; Angela Monterrubio; Adriana Reyes-Miranda; Paul J Hagerman; Verónica Martínez-Cerdeño
Journal:  Cerebellum       Date:  2016-10       Impact factor: 3.847

Review 2.  Fragile X-associated tremor/ataxia syndrome.

Authors:  Paul J Hagerman; Randi J Hagerman
Journal:  Ann N Y Acad Sci       Date:  2015-01-26       Impact factor: 5.691

3.  Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS).

Authors:  C M Greco; R F Berman; R M Martin; F Tassone; P H Schwartz; A Chang; B D Trapp; C Iwahashi; J Brunberg; J Grigsby; D Hessl; E J Becker; J Papazian; M A Leehey; R J Hagerman; P J Hagerman
Journal:  Brain       Date:  2005-12-05       Impact factor: 13.501

4.  Protein composition of the intranuclear inclusions of FXTAS.

Authors:  C K Iwahashi; D H Yasui; H-J An; C M Greco; F Tassone; K Nannen; B Babineau; C B Lebrilla; R J Hagerman; P J Hagerman
Journal:  Brain       Date:  2005-10-24       Impact factor: 13.501

5.  Fragile X-Associated Tremor/Ataxia Syndrome in a Man in His 30s.

Authors:  Verónica Martínez-Cerdeño; Mirna Lechpammer; Aisha Lott; Andrea Schneider; Randi Hagerman
Journal:  JAMA Neurol       Date:  2015-09       Impact factor: 18.302

6.  Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.

Authors:  Sébastien Jacquemont; Randi J Hagerman; Maureen A Leehey; Deborah A Hall; Richard A Levine; James A Brunberg; Lin Zhang; Tristan Jardini; Louise W Gane; Susan W Harris; Kristin Herman; James Grigsby; Claudia M Greco; Elizabeth Berry-Kravis; Flora Tassone; Paul J Hagerman
Journal:  JAMA       Date:  2004-01-28       Impact factor: 56.272

7.  Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome.

Authors:  Chantal Sellier; Ronald A M Buijsen; Fang He; Sam Natla; Laura Jung; Philippe Tropel; Angeline Gaucherot; Hugues Jacobs; Hamid Meziane; Alexandre Vincent; Marie-France Champy; Tania Sorg; Guillaume Pavlovic; Marie Wattenhofer-Donze; Marie-Christine Birling; Mustapha Oulad-Abdelghani; Pascal Eberling; Frank Ruffenach; Mathilde Joint; Mathieu Anheim; Veronica Martinez-Cerdeno; Flora Tassone; Rob Willemsen; Renate K Hukema; Stéphane Viville; Cecile Martinat; Peter K Todd; Nicolas Charlet-Berguerand
Journal:  Neuron       Date:  2017-01-05       Impact factor: 18.688
  7 in total
  3 in total

1.  Can a Neurosteroid Ameliorate Fragile X-Associated Tremor/Ataxia Syndrome?

Authors:  Dejan B Budimirovic
Journal:  Neurotherapeutics       Date:  2017-10       Impact factor: 7.620

2.  Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer's Disease.

Authors:  Elber Yuksel Aydin; Andrea Schneider; Dragana Protic; Jun Yi Wang; Veronica Martínez-Cerdeño; Flora Tassone; Hiu-Tung Tang; Susan Perlman; Randi J Hagerman
Journal:  Clin Interv Aging       Date:  2020-02-26       Impact factor: 4.458

3.  Presence of Middle Cerebellar Peduncle Sign in FMR1 Premutation Carriers Without Tremor and Ataxia.

Authors:  Jessica L Famula; Forrest McKenzie; Yingratana A McLennan; James Grigsby; Flora Tassone; David Hessl; Susan M Rivera; Veronica Martinez-Cerdeno; Randi J Hagerman
Journal:  Front Neurol       Date:  2018-08-22       Impact factor: 4.003
  3 in total

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