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Volume 15, Issue 5

October 2016

Special Issue on The Fragile X Syndrome/FXTAS

Issue Editor:

Antoni Matilla-Duenas

14 articles in this issue

FMR1 Premutation: Basic Mechanisms and Clinical Involvement
Montserrat Milà
Laia Rodriguez-Revenga
Antoni Matilla-Dueñas
Editorial 23 June 2016 Pages: 543 - 545
A Majority of FXTAS Cases Present with Intranuclear Inclusions Within Purkinje Cells
Jeanelle Ariza
Hailee Rogers
Verónica Martínez-Cerdeño
Original Paper 23 April 2016 Pages: 546 - 551
Altered Bioenergetics in Primary Dermal Fibroblasts from Adult Carriers of the FMR1 Premutation Before the Onset of the Neurodegenerative Disease Fragile X-Associated Tremor/Ataxia Syndrome
Eleonora Napoli
Gyu Song
Cecilia Giulivi
Original Paper 18 April 2016 Pages: 552 - 564
Executive Dysfunction in Female FMR1 Premutation Carriers
Annie L. Shelton
Kim M. Cornish
Joanne Fielding
Original Paper 28 April 2016 Pages: 565 - 569
Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele
Laia Rodriguez-Revenga
Javier Pagonabarraga
Montserrat Milà
Original Paper 17 June 2016 Pages: 570 - 577
Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers
Deborah A. Hall
Erin Robertson
Joan A. O’Keefe
Original Paper 10 June 2016 Pages: 578 - 586
Aging in Fragile X Premutation Carriers
Reymundo Lozano
Naomi Saito
Randi Hagerman
Original Paper 22 June 2016 Pages: 587 - 594
Fragile X Premutation Carrier Epidemiology and Symptomatology in Israel—Results from a Tertiary Child Developmental Center
Lidia V. Gabis
Noah Gruber
Shai E Elizur
Original Paper 17 June 2016 Pages: 595 - 598
Molecular Pathophysiology of Fragile X-Associated Tremor/Ataxia Syndrome and Perspectives for Drug Development
Teresa Botta-Orfila
Gian Gaetano Tartaglia
Aubin Michalon
Review 08 June 2016 Pages: 599 - 610
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice
Molly Foote
Gloria Arque
Mónica Santos
Review 02 June 2016 Pages: 611 - 622
Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series
Sarah M. Debrey
Maureen A. Leehey
Deborah A. Hall
Case Report 02 July 2016 Pages: 623 - 631
POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome
Martin Paucar
Martin Engvall
Per Svenningsson
Short Report 12 April 2016 Pages: 632 - 635
PSP-CBS with Dopamine Deficiency in a Female with a FMR1 Premutation
Martin Paucar
Stanislav Beniaminov
Per Svenningsson
Short Report 27 May 2016 Pages: 636 - 640
Cerebellar Mild Iron Accumulation in a Subset of FMR1 Premutation Carriers with FXTAS
Hailee Rogers
Jeanelle Ariza
Verónica Martínez-Cerdeño
Short Report 04 June 2016 Pages: 641 - 644

Volume 15, Issue 5

FMR1 Premutation: Basic Mechanisms and Clinical Involvement

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

Altered Bioenergetics in Primary Dermal Fibroblasts from Adult Carriers of the FMR1 Premutation Before the Onset of the Neurodegenerative Disease Fragile X-Associated Tremor/Ataxia Syndrome

Executive Dysfunction in Female FMR1 Premutation Carriers

Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele

Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers

Aging in Fragile X Premutation Carriers

Fragile X Premutation Carrier Epidemiology and Symptomatology in Israel—Results from a Tertiary Child Developmental Center

Molecular Pathophysiology of Fragile X-Associated Tremor/Ataxia Syndrome and Perspectives for Drug Development

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice

Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series

POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome

PSP-CBS with Dopamine Deficiency in a Female with a FMR1 Premutation

Cerebellar Mild Iron Accumulation in a Subset of FMR1 Premutation Carriers with FXTAS

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