scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1023404372 |
P356 | DOI | 10.1007/BF00315657 |
P698 | PubMed publication ID | 2277267 |
P2093 | author name string | G Campanella | |
G Caruso | |||
A Filla | |||
R Marconi | |||
G DeMichele | |||
P2860 | cites work | Late onset recessive ataxia with Friedreich's disease phenotype | Q33627485 |
Classification of the hereditary ataxias and paraplegias | Q34247421 | ||
Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages. | Q35202888 | ||
Genetic homogeneity at the Friedreich ataxia locus on chromosome 9 | Q35248065 | ||
Friedreich's disease 1982: etiologic hypotheses a personal analysis. | Q41623634 | ||
Intrafamilial correlation in Friedreich's ataxia | Q41641641 | ||
Computerized tomography in the study of degenerative ataxia | Q43474371 | ||
Diabetes Mellitus: A new look at diagnostic criteria | Q44562977 | ||
Friedreich's ataxia in the south of Italy: a clinical and biochemical survey of 23 patients. | Q45306460 | ||
Genetic and family studies in Friedreich's ataxia | Q46389234 | ||
Electroencephalographic findings in Friedreich's ataxia | Q48353074 | ||
Correlation of clinical signs with CT findings in patients with cerebellar disease | Q48379309 | ||
Specific impairment of BAER's in Friedreich's ataxia. Auditory evoked responses in clinical evaluation and differential diagnosis | Q48650790 | ||
Glucose and insulin metabolism in Friedreich's ataxia. | Q51669450 | ||
Mapping of mutation causing Friedreich's ataxia to human chromosome 9 | Q59095680 | ||
Clinical Description and Roentgenologic Evaluation of Patients with Friedreich's Ataxia | Q66889506 | ||
Computed Tomography of Posterior Fossa in Hereditary Ataxias | Q66940135 | ||
A method for evaluating disability in patients with Parkinson's disease. | Q67225236 | ||
Noninvasive assessment of systolic and diastolic function in 50 patients with Friedreich's ataxia | Q68045661 | ||
Electrocardiographic and vectocardiographic findings in Friedreich's ataxia | Q68208377 | ||
Friedreich's ataxia: electrophysiologic and histologic findings in patients and relatives | Q69238430 | ||
Hypotrophic and dying-back nerve fibers in Friedreich's ataxia | Q69626177 | ||
Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features | Q70901775 | ||
The clinical features of hereditary motor and sensory neuropathy types I and II | Q71261165 | ||
Friedreich's ataxia: electrophysiological and histological findings | Q71698526 | ||
The heart disease of Friedreich's ataxia: a clinical and electrocardiographic study of 115 patients, with an analysis of serial electrocardiographic changes in 30 cases | Q72803514 | ||
Friedreich's ataxia. Early detection and progression of peripheral nerve abnormalities | Q72960020 | ||
P433 | issue | 6 | |
P921 | main subject | Italy | Q38 |
P304 | page(s) | 345-351 | |
P577 | publication date | 1990-10-01 | |
P1433 | published in | Journal of Neurology | Q6295649 |
P1476 | title | Genetic data and natural history of Friedreich's disease: a study of 80 Italian patients | |
P478 | volume | 237 |
Q70646007 | A double-blind cross-over trial of amantadine hydrochloride in Friedreich's ataxia |
Q89303008 | Autonomic function testing in Friedreich's ataxia |
Q82719745 | Axial diffusivity is increased in the degenerating superior cerebellar peduncles of Friedreich's ataxia |
Q53216642 | Brain structural damage in spinocerebellar ataxia type 1 : a VBM study. |
Q36987314 | Central role and mechanisms of β-cell dysfunction and death in friedreich ataxia-associated diabetes |
Q36672749 | Clinical aspects of hereditary ataxias |
Q38121948 | Clinical features of Friedreich's ataxia: classical and atypical phenotypes. |
Q58184836 | Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the friedreich's ataxia locus on chromosome 9q |
Q33811161 | Echocardiographic features of genetic diseases: part 1. Cardiomyopathy |
Q56700247 | Emerging therapeutics for the treatment of Friedreich’s ataxia |
Q64093623 | Erythropoietin and Friedreich Ataxia: Time for a Reappraisal? |
Q62959630 | Evidence of a genetic marker associated with early onset in Friedreich's ataxia |
Q104516297 | Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance |
Q38730963 | Friedreich Ataxia: current status and future prospects |
Q79341031 | Friedreich ataxia |
Q35764226 | Friedreich ataxia in Norway - an epidemiological, molecular and clinical study |
Q34076650 | Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities |
Q37913213 | Friedreich's Ataxia: a review from a cardiology perspective |
Q37376101 | Friedreich's Ataxia: from the (GAA)n repeat mediated silencing to new promising molecules for therapy |
Q70682399 | Friedreich's ataxia presenting with pure sensory ataxia: a long-term follow-up study of two patients |
Q37223281 | Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia |
Q47830573 | Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): clinical and neuropathological features of a Japanese family. |
Q55724201 | Histogram analysis of DTI-derived indices reveals pontocerebellar degeneration and its progression in SCA2. |
Q45711541 | Identification of a novel transcript of X25, the human gene involved in Friedreich ataxia. |
Q47238329 | Influence of GAA expansion size and disease duration on central nervous system impairment in Friedreich's ataxia: contribution to the understanding of the pathophysiology of the disease. |
Q62959658 | Intrafamilial phenotype variation in Friedreich's disease: possible exceptions to diagnostic criteria |
Q33732929 | Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus |
Q42657308 | Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a central-southern Italian population |
Q48866360 | Long-term effect of epoetin alfa on clinical and biochemical markers in friedreich ataxia. |
Q84301644 | Longitudinal change in dysarthria associated with Friedreich ataxia: a potential clinical endpoint |
Q46052596 | Low-dose idebenone treatment in Friedreich's ataxia with and without cardiac hypertrophy |
Q48013420 | Lower medulla hypoplasia in Friedreich ataxia: MR Imaging confirmation 140 years later. |
Q70825516 | Magnetic resonance imaging in "typical" and "late onset" Friedreich's disease and early onset cerebellar ataxia with retained tendon reflexes |
Q73076297 | May age onset be relevant in the occurrence of left ventricular hypertrophy in Friedreich's ataxia? |
Q84365795 | Neurodegeneration in friedreich's ataxia is associated with a mixed activation pattern of the brain. A fMRI study |
Q98195565 | Onset features and time to diagnosis in Friedreich's Ataxia |
Q33552305 | PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia |
Q90377260 | Predictors of survival in spinocerebellar ataxia type 2 population from Southern Italy |
Q68027864 | Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy |
Q35107256 | Progression of brain atrophy in spinocerebellar ataxia type 2: a longitudinal tensor-based morphometry study |
Q48225984 | Progression of microstructural damage in spinocerebellar ataxia type 2: a longitudinal DTI study. |
Q44781231 | Reduced striatal [123 I]FP-CIT binding in SCA2 patients without parkinsonism |
Q52152062 | Regional Cerebral Disease Progression in Friedreich's Ataxia: A Longitudinal Diffusion Tensor Imaging Study. |
Q72558825 | Serum lipoprotein fatty acid profile in hereditary ataxias |
Q37164152 | Serum versus Imaging Biomarkers in Friedreich Ataxia to Indicate Left Ventricular Remodeling and Outcomes |
Q45394861 | Supratentorial and infratentorial damage in spinocerebellar ataxia 2: a diffusion-weighted MRI study |
Q72214585 | The clinical spectrum of Friedreich's ataxia in German families showing linkage to the FRDA locus on chromosome 9 |
Q42176216 | The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia |
Q38924043 | Unveiling a common mechanism of apoptosis in β-cells and neurons in Friedreich's ataxia |
Q41676918 | Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia. |
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