| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Aging in Fragile X Premutation Carriers
|
Lozano, Reymundo
|
|
2016
|
15 |
5 |
p. 587-594
|
artikel
|
| 2 |
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
|
Napoli, Eleonora
|
|
2016
|
15 |
5 |
p. 552-564
|
artikel
|
| 3 |
A Majority of FXTAS Cases Present with Intranuclear Inclusions Within Purkinje Cells
|
Ariza, Jeanelle
|
|
2016
|
15 |
5 |
p. 546-551
|
artikel
|
| 4 |
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
|
Rodriguez-Revenga, Laia
|
|
2016
|
15 |
5 |
p. 570-577
|
artikel
|
| 5 |
Cerebellar Mild Iron Accumulation in a Subset of FMR1 Premutation Carriers with FXTAS
|
Rogers, Hailee
|
|
2016
|
15 |
5 |
p. 641-644
|
artikel
|
| 6 |
Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series
|
Debrey, Sarah M.
|
|
2016
|
15 |
5 |
p. 623-631
|
artikel
|
| 7 |
Executive Dysfunction in Female FMR1 Premutation Carriers
|
Shelton, Annie L.
|
|
2016
|
15 |
5 |
p. 565-569
|
artikel
|
| 8 |
FMR1 Premutation: Basic Mechanisms and Clinical Involvement
|
Milà, Montserrat
|
|
2016
|
15 |
5 |
p. 543-545
|
artikel
|
| 9 |
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice
|
Foote, Molly
|
|
2016
|
15 |
5 |
p. 611-622
|
artikel
|
| 10 |
Fragile X Premutation Carrier Epidemiology and Symptomatology in Israel—Results from a Tertiary Child Developmental Center
|
Gabis, Lidia V.
|
|
2016
|
15 |
5 |
p. 595-598
|
artikel
|
| 11 |
Molecular Pathophysiology of Fragile X-Associated Tremor/Ataxia Syndrome and Perspectives for Drug Development
|
Botta-Orfila, Teresa
|
|
2016
|
15 |
5 |
p. 599-610
|
artikel
|
| 12 |
POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome
|
Paucar, Martin
|
|
2016
|
15 |
5 |
p. 632-635
|
artikel
|
| 13 |
PSP-CBS with Dopamine Deficiency in a Female with a FMR1 Premutation
|
Paucar, Martin
|
|
2016
|
15 |
5 |
p. 636-640
|
artikel
|
| 14 |
Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers
|
Hall, Deborah A.
|
|
2016
|
15 |
5 |
p. 578-586
|
artikel
|
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