Literature DB >> 28360777

Late Onset Tremor and Ataxia Syndrome: FXTAS and its Ignored Peripheral Nervous System Findings in Diagnostic Criteria.

Amber Eker1, Umut Fahrioğlu2, Nedime Serakinci3.   

Abstract

Entities:  

Year:  2016        PMID： 28360777      PMCID： PMC5353249          DOI： 10.5152/npa.2015.10011

Source DB:  PubMed          Journal:  Noro Psikiyatr Ars        ISSN： 1300-0667            Impact factor:   1.339


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  10 in total

1.  New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS).

Authors:  Jorge L Juncos; Joash T Lazarus; Emily Graves-Allen; Lisa Shubeck; Michelle Rusin; Gloria Novak; Deborah Hamilton; Julia Rohr; Stephanie L Sherman
Journal:  Neurogenetics       Date:  2011-01-29       Impact factor: 2.660

2.  Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

Authors:  R J Hagerman; M Leehey; W Heinrichs; F Tassone; R Wilson; J Hills; J Grigsby; B Gage; P J Hagerman
Journal:  Neurology       Date:  2001-07-10       Impact factor: 9.910

3.  Neuropathic features in fragile X premutation carriers.

Authors:  Elizabeth Berry-Kravis; Christopher G Goetz; Maureen A Leehey; Randi J Hagerman; Lin Zhang; Lexin Li; Danh Nguyen; Deborah A Hall; Nicole Tartaglia; Jennifer Cogswell; Flora Tassone; Paul J Hagerman
Journal:  Am J Med Genet A       Date:  2007-01-01       Impact factor: 2.802

4.  Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.

Authors:  Michael R Hunsaker; Claudia M Greco; Marian A Spath; Arie P T Smits; Celestine S Navarro; Flora Tassone; Johan M Kros; Lies-Anne Severijnen; Elizabeth M Berry-Kravis; Robert F Berman; Paul J Hagerman; Rob Willemsen; Randi J Hagerman; Renate K Hukema
Journal:  Acta Neuropathol       Date:  2011-07-23       Impact factor: 17.088

5.  FXTAS: new insights and the need for revised diagnostic criteria.

Authors:  Emmanuelle Apartis; Anne Blancher; Wassilios G Meissner; Lucie Guyant-Maréchal; David Maltête; Thomas De Broucker; André-Pierre Legrand; Hichem Bouzenada; Hung Tran Thanh; Magali Sallansonnet-Froment; Adrien Wang; François Tison; Carole Roué-Jagot; Frédéric Sedel; Perrine Charles; Sandra Whalen; Delphine Héron; Stéphane Thobois; Alice Poisson; Gaetan Lesca; Anne-Marie Ouvrard-Hernandez; Valérie Fraix; Stephane Palfi; Marie-Odile Habert; Bertrand Gaymard; Jean-Claude Dussaule; Pierre Pollak; Marie Vidailhet; Alexandra Durr; Jean-Claude Barbot; Véronique Gourlet; Alexis Brice; Mathieu Anheim
Journal:  Neurology       Date:  2012-10-17       Impact factor: 9.910

6.  Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome.

Authors:  Randi J Hagerman; Sarah M Coffey; Ricardo Maselli; Kultida Soontarapornchai; James A Brunberg; Maureen A Leehey; Lin Zhang; Louise W Gane; Grace Fenton-Farrell; Flora Tassone; Paul J Hagerman
Journal:  Am J Med Genet A       Date:  2007-10-01       Impact factor: 2.802

7.  Abnormal nerve conduction features in fragile X premutation carriers.

Authors:  Kultida Soontarapornchai; Ricardo Maselli; Grace Fenton-Farrell; Flora Tassone; Paul J Hagerman; Davis Hessl; Randi J Hagerman
Journal:  Arch Neurol       Date:  2008-04

Review 8.  Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines.

Authors:  Elizabeth Berry-Kravis; Liane Abrams; Sarah M Coffey; Deborah A Hall; Claudia Greco; Louise W Gane; Jim Grigsby; James A Bourgeois; Brenda Finucane; Sebastien Jacquemont; James A Brunberg; Lin Zhang; Janet Lin; Flora Tassone; Paul J Hagerman; Randi J Hagerman; Maureen A Leehey
Journal:  Mov Disord       Date:  2007-10-31       Impact factor: 10.338

9.  Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.

Authors:  Sébastien Jacquemont; Randi J Hagerman; Maureen Leehey; Jim Grigsby; Lin Zhang; James A Brunberg; Claudia Greco; Vincent Des Portes; Tristan Jardini; Richard Levine; Elizabeth Berry-Kravis; W Ted Brown; Stephane Schaeffer; John Kissel; Flora Tassone; Paul J Hagerman
Journal:  Am J Hum Genet       Date:  2003-03-12       Impact factor: 11.025

10.  Fragile x-associated tremor ataxia syndrome: the expanding clinical picture, pathophysiology, epidemiology, and update on treatment.

Authors:  Deborah A Hall; Joan A O'keefe
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2012-05-11
  10 in total
  1 in total

1.  Metabolic profiling reveals dysregulated lipid metabolism and potential biomarkers associated with the development and progression of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

Authors:  Marwa Zafarullah; Grzegorz Palczewski; Susan M Rivera; David R Hessl; Flora Tassone
Journal:  FASEB J       Date:  2020-11-01       Impact factor: 5.191
  1 in total

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