6 Result(s)
within
N. Nardocci
English
Neurosciences
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Article
R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome
TFG (tropomyosin-receptor kinase fused gene) encodes an essential protein in the regulation of vesicular trafficking between endoplasmic reticulum and Golgi apparatus. The homozygous variant c.316C > T within TFG
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Article
Extragenetic factors and clinical penetrance of DYT1 dystonia: an exploratory study
Factors modifying the clinical penetrance of DYT1 dystonia are incompletely defined. Particularly, the contribution of extragenetic factors has been subject to only limited investigation and remains largely un...
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Article
Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients
We report the imaging findings in 11 patients with infantile neuroaxonal dystrophy. Ten patients underwent 15 MRI examinations; one patient had only CT. Of the ten patients who underwent MRI, eight had cerebe...
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Article
Hallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in life
The diagnosis of Hallervorden-Spatz disease (HSD) has usually been made post mortem, although the recent description of characteristic abnormalities in the globus pallidus has suggested the possibility of an i...
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Article
Idiopathic dystonia with onset in childhood
The natural history of early-onset idiopathic dystonia was studied in 30 patients. Worsening of motor symptoms was observed in the early stages, followed by spontaneous stabilization. Most of the patients reta...
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Article
Idiopathic dystonia: Neuropharmacological study
A total of 15 patients affected by idiopathic dystonia (7 with generalized and 8 with focal or segmental dystonia) were subjected to therapy with bromocriptine at low doses, pimozide and trihexyphenidyl. The s...
