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Irene Colombo

University of Milan

33

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323

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Impact of SARS-CoV-2 infection on acute intracerebral haemorrhage in northern Italy.

2021 Journal of the Neurological Sciences
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Exertional rhabdomyolysis leading to acute kidney injury: when genetic defects are diagnosed in adult life

2018 CEN Case Reports
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Effects of short‐to‐long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)

2018 Neuropathology and Applied Neurobiology
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The clinical spectrum of CASQ1-related myopathy

2018 Neurology
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MUTATIONS IN HSPB8 CAUSING AUTOSOMAL DOMINANT DISTAL HEREDITARY MOTOR NEUROPATHY AND MYOFIBRILLAR MYOPATHY: REPORT OF A NOVEL FAMILY

2016
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A case report with the peculiar concomitance of 2 different genetic syndromes

2016 Medicine
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Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation

2016 Journal of Neurology, Neurosurgery, and Psychiatry
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TDP43-DEPENDENT ALTERATION OF RNA METABOLISM IN HSPB8-RELATED AUTOSOMAL DOMINANT DISTAL HEREDITARY MOTOR NEUROPATHY AND MYOFIBRILLAR MYOPATHY: A FAMILY STUDY

2016
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Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.

2016 Cancer Research and Treatment
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Congenital myopathies Natural history of a large pediatric cohort

2015 Neurology
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Citations (77)