A. Martinuzzi

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Histoenzymatic profile of human muscle cultured in monolayer and innervated de novo by fetal rat spinal cord

W. Engel, V. Askanas, Giuseppe Vita, 1988, Muscle & nerve.

20 Years of ICF—International Classification of Functioning, Disability and Health: Uses and Applications around the World

Guðrún Auður Harðardóttir, N. Kostanjsek, M. Leonardi, 2022, International journal of environmental research and public health.

Muscle MRI in McArdle Disease

Miguel Ángel Martín, J. Vissing, F. Granata, 2022, Neurology.

Psychiatric symptoms in adult patients with cerebral palsy: A cohort study

S. Pizzighello, A. Pellegri, S. Piccoli, 2022, Frontiers in Neurology.

Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4

G. Rizzo, C. Cereda, A. Filla, 2022, Neurology: Genetics.

Paralysis of Innervated Cultured Human Muscle Fibers Affects Enzymes Differentially

W. Engel, A. Martinuzzi, V. Askanas, 1990, Journal of neurochemistry.

Two novel missense mutations (E654K, L396P) in caucasian patients with myophosphorylase deficiency (McArdle's disease)

S. Dimauro, S. Tsujino, T. Heiman-Patterson, 1995, Human mutation.

Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA‐Ataxia

N. Jahanshad, C. Lenglet, D. Timmann, 2022, Movement disorders : official journal of the Movement Disorder Society.

Residual muscle cytochrome c oxidase activity accounts for submaximal exercise lactate threshold in chronic progressive external ophthalmoplegia

C. Angelini, G. Siciliano, A. Tessa, 1996, Muscle & nerve.

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

M. Vorgerd, C. Bruno, A. Santalla, 2020, Orphanet Journal of Rare Diseases.

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

M. Vorgerd, C. Bruno, A. Santalla, 2020, Orphanet Journal of Rare Diseases.

Do we really need to open a classification box on personal factors in ICF?

M. Leonardi, C. V. van Gool, A. Raggi, 2016, Disability and rehabilitation.

The perceived impact of Covid-19 pandemic on the children with cerebral palsy: the parents’ perspective explored within the “6-F words” framework

S. Pizzighello, G. De Polo, Marianna Uliana, 2023, Child and Adolescent Psychiatry and Mental Health.

The perception of disability in cerebral palsy: a cross-sectional study using the WHODAS 2.0

A. Raggi, S. Pizzighello, M. Vavla, 2023, Developmental neurorehabilitation.

MELAS: Clinical features, biochemistry, and molecular genetics

S. Dimauro, E. Schon, A. Martinuzzi, 1992, Annals of neurology.

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.

D. Timmann, A. Durr, L. Schöls, 2023, American journal of human genetics.

MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells.

R. Carrozzo, P. Cortelli, A. Martinuzzi, 1995, Biochemical and biophysical research communications.

Exploring mental status in Friedreich's ataxia: a combined neuropsychological, behavioral and neuroimaging study

C. Angelini, A. Martinuzzi, C. Macchi, 2006, European journal of neurology.

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts.

I. Nonaka, C. Angelini, A. Martinuzzi, 1992, Proceedings of the National Academy of Sciences of the United States of America.

Training on the International Classification of Functioning, Disability and Health (ICF): the ICF–DIN Basic and the ICF–DIN Advanced Course developed by the Disability Italian Network

M. Leonardi, J. Bickenbach, A. Martinuzzi, 2005, The Journal of Headache and Pain.

Applying the International Classification of Functioning, Disability and Health (ICF) to measure childhood disability

M. Leonardi, A. Martinuzzi, D. Lollar, 2003, Disability and rehabilitation.

Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy.

A. Martinuzzi, G. Attardi, O. Hurko, 1992, Proceedings of the National Academy of Sciences of the United States of America.

Children in Vegetative State and Minimally Conscious State: Patients' Condition and Caregivers' Burden

A. Trabacca, M. Leonardi, D. Sattin, 2012, The Scientific World Journal.

Respiratory Function in Friedreich’s Ataxia

G. Paparella, M. Martinuzzi, E. Colombo, 2022, Children.

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum

N. Bresolin, F. Boaretto, A. Martinuzzi, 2009, Journal of Medical Genetics.

Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial

N. Bresolin, C. Angelini, G. Scarlato, 1990, Journal of the Neurological Sciences.

Neuroendoscopic Management of Intraventricular Hemorrhage

A. Martinuzzi, P. Longatti, A. Fiorindi, 2004, Stroke.