S. Donato

发表

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

P. Plevani, F. Tempia, A. Pastore, 2010, Nature Genetics.

Spinocerebellar ataxia type 1.

Franco Taroni, Caterina Mariotti, F. Taroni, 2012, Handbook of clinical neurology.

Spinocerebellar ataxia type 17 (SCA17): Oculomotor phenotype and clinical characterization of 15 Italian patients

C. Lovati, S. di Donato, C. Gellera, 2007, Journal of Neurology.

SCA 28 , a novel form of autosomal dominant cerebellar ataxia on chromosome 18 p 11 . 22 – q 11 . 2

C. Gellera, A. Brusco, M. Grisoli, 2005 .

Frontal cortex BOLD signal changes in premanifest Huntington disease

F. Ghielmetti, M. Mandelli, M. Grisoli, 2014, Neurology.

Molecular Diagnosis of Mitochondrial Disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

The complex clinical and genetic classification of inherited ataxias. I. Dominant ataxias

S. Donato, 1998, The Italian Journal of Neurological Sciences.

Early and brain region-specific decrease of de novo cholesterol biosynthesis in Huntington's disease: A cross-validation study in Q175 knock-in mice

D. Marchionini, S. Kwak, S. Donato, 2017, Neurobiology of Disease.

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.

Enrico Amico, Philippe Allain, Mark Mühlau, 2017, The Lancet. Neurology.

The therapeutic potential of neural stem/progenitor cells in murine globoid cell leukodystrophy is conditioned by macrophage/microglia activation

G. Finocchiaro, S. Pellegatta, P. L. Poliani, 2006, Neurobiology of Disease.

Heterogeneity of carnitine-palmitoyltransferase deficiency

F. Cornelio, S. Donato, M. Rimoldi, 1981, Journal of the Neurological Sciences.

A I .5-Mb Deletion in 17p I 1.2-p 1 2 Is Frequently Observed in Italian Families with Hereditary Neuropathy with Liability to Pressure Palsies

J. Lupski, M. Pandolfo, D. Pareyson, 2007 .

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients

B. Castellotti, C. Gellera, N. Nardocci, 2011, neurogenetics.

Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations

M. Zeviani, B. Castellotti, C. Gellera, 2001, Neuromuscular Disorders.

Membrane adsorption and internalization of (14C)chloroquine by cultured human fibroblasts.

S. Donato, U. Wiesmann, N. Herschkowitz, 1977, Biochemical pharmacology.

Faculty Opinions recommendation of Mutant huntingtin expression induces mitochondrial calcium handling defects in clonal striatal cells: functional consequences.

S. Donato, 2006 .

Faculty Opinions recommendation of An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study.

S. Donato, 2013 .

Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities

S. Donato, J. Saudubray, M. Rimoldi, 1988, Pediatric Research.

Cytochrome-C-oxidase deficiency in muscles of a floppy infant without mitochondrial myopathy

G. Uziel, F. Cornelio, S. Donato, 2004, Journal of Neurology.

The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced lysosomal activity

Austin G Smith, C. Gellera, L. Naldini, 2012, Neurobiology of Disease.

Skeletal muscle NAD+(P) and NADP+‐dependent malic enzyme in Friedreich's ataxia

S. Donato, E. Bottacchi, 1983, Neurology.

Systemic carnitine deficiency

G. Finocchiaro, M. Mora, S. Donato, 1984, Neurology.

Systemic carnitine deficiency due to lack of electron transfer flavoprotein

P. Rinaldo, F. Taroni, S. Donato, 1986, Neurology.

Multisystem manifestations of mitochondrial disorders

S. Donato, Stefano Di Donato, 2009, Journal of Neurology.

Disorders of Lipid Metabolism

F. Taroni, S. Donato, 2015 .

Disorders of Voluntary Muscle: Metabolic myopathies: Defects of carbohydrate and lipid metabolism

J. Vissing, F. Taroni, S. Donato, 2010 .

Progressive dysfunction of the cholesterol biosynthesis pathway in the R6/2 mouse model of Huntington’s disease

C. Mariotti, S. Donato, A. Tarditi, 2007, Neurobiology of Disease.

Plasma 24S-hydroxycholesterol correlation with markers of Huntington disease progression

Jane S. Paulsen, J. Long, J. Mills, 2013, Neurobiology of Disease.

Linkage Disequilibrium Analysis of Friedreich’s Ataxia in 140 Caucasian Families: Positioning of the Disease Locus and Evaluation of Allelic Heterogeneity

G. Sirugo, A. Brice, M. Pandolfo, 1993, European journal of human genetics : EJHG.

A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference

C. Gellera, F. Taroni, S. Donato, 2009, Experimental Neurology.

Mitochondria‐lipid‐glycogen myopathy, hyperlactacidemia, and carnitine deficiency

F. Cornelio, S. Donato, D. Peluchetti, 1978, Neurology.

“Carnitine deficient” myopathy and cardiomyopathy with fatal outcome

F. Cornelio, M. Mora, S. Donato, 1979, The Italian Journal of Neurological Sciences.

Acid Maltase Deficiency in Adults

F. Cornelio, S. Donato, M. Rimoldi, 1978 .

Mitochondrial encephalo-neuro-myopathy with myoclonus epilepsy, basal nuclei calcification and hyperlactacidemia

G. Guazzi, A. Federico, F. Cornelio, 1988, The Italian Journal of Neurological Sciences.

Molecular Diagnosis of Neurogenetic Disorders: Motoneuron, Peripheral Nerve and Muscle Disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

Whole body cholesterol metabolism is impaired in Huntington's disease

A. Bentivoglio, E. Salvatore, S. Donato, 2011, Neuroscience Letters.

Friedreich's ataxia II. Biochemical studies in cultured cells

G. Uziel, S. Donato, E. Bottacchi, 1979, Neurological Sciences.

Spinocerebellar ataxia type 28: A novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis

C. Gellera, A. Brusco, F. Taroni, 2008, The Cerebellum.

An overview of the patient with ataxia

C. Mariotti, S. Donato, R. Fancellu, 2005, Journal of Neurology.

Localization of DNA probes tightly linked to the Friedreich's ataxia locus by in situ hybridization in a case of pericentric inversion of chromosome 9

M. Pandolfo, G. Uziel, S. Donato, 1991, Human Genetics.

Evidence of a genetic marker associated with early onset in Friedreich's ataxia

M. Pandolfo, A. Porcellini, L. Pianese, 2004, Journal of Neurology.

Friedreich's ataxia I. Clinical, Neurophysiological and in vivo biochemical studies

G. Uziel, S. Donato, A. D'angelo, 1979, Neurological Sciences.

Chapter 15 Clinical Trials in Muscle Disorders

R. Mantegazza, F. Cornelio, S. Donato, 2001 .

Molecular Diagnosis of Neurogenetic Disorders: General Issues, Huntington's Disease, Parkinson's Disease and Dystonias

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides

G. Andria, S. Donato, B. Garavaglia, 1988, Neurology.

Severe deficiency of the fatty acid amide hydrolase (FAAH) activity segregates with the Huntington's disease mutation in peripheral lymphocytes

A. Finazzi-Agro’, M. Peschanski, A. Bachoud-Lévi, 2007, Neurobiology of Disease.

Molecular Diagnosis of Ataxias and Spastic Paraplegias

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

S. Donato, 2000, Journal of Inherited Metabolic Disease.

The Mitochondrial Machinery

S. Donato, 2002 .

Glucose metabolism alterations in Friedreich's ataxia

G. Finocchiaro, G. Pozza, S. Donato, 1988, Neurology.

Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course.

M. Hayden, D. Rubinsztein, A. Bachoud-Lévi, 2003, Brain : a journal of neurology.

Neurobiology of Disease Dysfunction of the Cholesterol Biosynthetic Pathway in Huntington ’ s Disease

J. Olson, A. Strand, G. Bates, 2022 .

Electromyography and nerve conduction study in autosomal dominant olivopontocerebellar atrophy

G. Finocchiaro, S. Donato, L. Carenini, 2004, Journal of Neurology.

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPAgene in Italian families

D. Gambi, B. Castellotti, C. Gellera, 2004, Neurological Sciences.

Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families

R. Marconi, B. Castellotti, C. Gellera, 2000, Neuromuscular Disorders.

Brainstem auditory-evoked responses and clinical picture in a one year follow-up of 18 patients with Friedreich ataxia

G. Finocchiaro, S. Donato, G. Finocchiaro, 1985, The Italian Journal of Neurological Sciences.

Glutamate metabolism alterations in dominant OPCA

M. Pandolfo, G. Finocchiaro, F. Taroni, 1984 .

Myoadenylate deaminase deficiency in twins with recessive olivopontocerebellar atrophy

C. Gellera, G. Uziel, F. Cornelio, 1986, The Italian Journal of Neurological Sciences.

Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages.

P. Menozzi, S. di Donato, A. Filla, 1983, American journal of human genetics.

Cherry-red spot myoclonus syndrome and alpha-neuraminidase deficiency: neurophysiological, pharmacological and biochemical study in an adult.

G. Avanzini, S. Franceschetti, G. Uziel, 1980, Journal of neurology, neurosurgery, and psychiatry.

EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2011, European journal of neurology.

Spinocerebellar ataxia type 1.

F. Taroni, C. Mariotti, S. Donato, 2014, Handbook of clinical neurology.

Relative Frequencies of CAG Expansions in Spinocerebellar Ataxia and Dentatorubropallidoluysian Atrophy in 116 Italian Families

G. Caruso, G. Coppola, S. di Donato, 2000, European Neurology.

Idebenone treatment in Friedreich patients: One-year-long randomized placebo-controlled trial

S. di Donato, A. Solari, C. Mariotti, 2003, Neurology.

Spinocerebellar ataxia type 1.

F. Taroni, C. Mariotti, S. Donato, 2014, Handbook of clinical neurology.

Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes

Davide Pareyson, Caterina Mariotti, Antonella Antonelli, 1999, Journal of Neurology.

EFNS guidelines on the molecular diagnosis of mitochondrial disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2009, European journal of neurology.

L-Carnitine Addition to Dialysis Fluid

E. Bagiella, S. Donato, D. Ashbrook, 1989 .

Molecular Diagnosis of Channelopathies, Epilepsies, Migraine, Stroke and Dementias

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias

J. Finsterer, M. Zeviani, C. Broeckhoven, 2010, European journal of neurology.

A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.

J. Lupski, S. di Donato, M. Pandolfo, 1995, American journal of human genetics.

Propriospinal myoclonus with life threatening tonic spasms as paraneoplastic presentation of breast cancer

D. Pareyson, F. Cornelio, S. Donato, 2005, Journal of Neurology, Neurosurgery & Psychiatry.

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

J. Burgunder, J. Finsterer, M. Zeviani, 2010, European journal of neurology.

Myopathies due to carnitine or carnitine-palmitoiltransferase deficiencies

S. Donato, 1991 .

Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency.

S. di Donato, G. Uziel, S. Donato, 1984, Clinica chimica acta; international journal of clinical chemistry.

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

P. Plevani, F. Tempia, A. Pastore, 2010, Nature Genetics.

EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias

J. Burgunder, J. Finsterer, M. Zeviani, 2009, European journal of neurology.

Pyruvate-dehydrogenase complex in ataxic patients: Enzyme deficiency in ataxic encephalopathy plus lactic acidosis and normal activity in Friedreich ataxia

G. Uziel, S. Donato, E. Bottacchi, 1982, The Italian Journal of Neurological Sciences.

Plasma 24S-hydroxycholesterol correlation with markers of Huntington disease progression

Jane S. Paulsen, J. Long, J. Mills, 2013, Neurobiology of Disease.