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6 in total

1. MRI and SPECT of midbrain and striatal degeneration in fragile X-associated tremor/ataxia syndrome.

Authors: Cesa Scaglione; Andrea Ginestroni; Alessandra Vella; Maria Teresa Dotti; Riccardo Della Nave; Giovanni Rizzo; Maria Teresa De Cristofaro; Nicola De Stefano; Silvia Piacentini; Paolo Martinelli; Mario Mascalchi
Journal: J Neurol Date: 2007-12-19 Impact factor: 4.849

2. Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene.

Authors: Veronica Nobile; Federica Palumbo; Stella Lanni; Valentina Ghisio; Alberto Vitali; Massimo Castagnola; Valeria Marzano; Giuseppe Maulucci; Claudio De Angelis; Marco De Spirito; Laura Pacini; Laura D'Andrea; Rino Ragno; Giulia Stazi; Sergio Valente; Antonello Mai; Pietro Chiurazzi; Maurizio Genuardi; Giovanni Neri; Elisabetta Tabolacci
Journal: Hum Genet Date: 2020-01-09 Impact factor: 4.132

3. Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism.

Authors: Danuta Z Loesch; David E Godler; Andrew Evans; Quang M Bui; Freya Gehling; Katya E Kotschet; Nicholas Trost; Elsdon Storey; Paige Stimpson; Glynda Kinsella; David Francis; David R Thorburn; Alison Venn; Howard R Slater; Malcolm Horne
Journal: Genet Med Date: 2011-05 Impact factor: 8.822

A case of fragile X premutation tremor/ataxia syndrome with evidence of mitochondrial dysfunction.

1. MRI and SPECT of midbrain and striatal degeneration in fragile X-associated tremor/ataxia syndrome.

2. Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene.

3. Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism.

Review 4. Impaired GABA Neural Circuits Are Critical for Fragile X Syndrome.

5. Fragile X syndrome: a pilot proton magnetic resonance spectroscopy study in premutation carriers.

6. MT-CYB deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles.