FXTAS in spanish patients with ataxia: support for female FMR1 premutation screening.

scientific article published in June 2007

FXTAS in spanish patients with ataxia: support for female FMR1 premutation screening. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1007/S12035-007-0020-3
P698PubMed publication ID17917121

P50authorMar TintoréQ41423156
Montserrat MilàQ56241521
Dolores JimenezQ57419381
P2093author name stringLaia Rodriguez-Revenga
Esteban Muñoz
Luis Brieva
Gisela Martín
Monica Santos
Beatriz Gómez-Anson
P2860cites workFragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutationQ24533431
The fragile-X premutation: a maturing perspectiveQ24533443
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradoxQ28235115
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier populationQ28241139
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlatesQ33905067
Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.Q34146206
Noninvasive test for fragile X syndrome, using hair root analysisQ34390773
The fragile X premutation: into the phenotypic foldQ34699408
Myotonic syndromesQ34915798
Absence of expression of the FMR-1 gene in fragile X syndromeQ41669091
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriersQ46124789
Incidence of fragile X in 5,000 consecutive newborn males.Q48000940
FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.Q50282467
Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxiaQ50282780
Should we screen for FMR1 premutations in female subjects presenting with ataxia?Q51929586
FXTAS, SCA10, and SCA17 in American patients with movement disorders.Q51930184
FMR1 premutation as a rare cause of late onset ataxia--evidence for FXTAS in female carriers.Q51934788
Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxiaQ73069201
P433issue3
P304page(s)324-328
P577publication date2007-06-01
P1433published inMolecular NeurobiologyQ15716645
P1476titleFXTAS in spanish patients with ataxia: support for female FMR1 premutation screening.
P478volume35

Reverse relations

cites work (P2860)
Q45399687Abnormal GABA-mediated and cerebellar inhibition in women with the fragile X premutation.
Q35061105FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes
Q26852667Fragile X-associated tremor/ataxia syndrome
Q38896237Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders
Q34329664Fragile x-associated tremor ataxia syndrome: the expanding clinical picture, pathophysiology, epidemiology, and update on treatment
Q35027822Rare intranuclear inclusions in the brains of 3 older adult males with fragile x syndrome: implications for the spectrum of fragile x-associated disorders
Q33987114Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation.