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Elena Maria Pennisi

Observed names: E M Pennisi, E Pennisi, E. M. Pennisi, E. Pennisi, E.M. Pennisi, Elena M Pennisi, Elena M. Pennisi, Elena Pennisi, Elizabeth Pennisi, Pennisi, Elena Maria
ORCID: 0000-0002-0600-6855
Observed ORCID: 0000-0002-0600-6855
OpenAlex ID: A5049908982
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients
2017 · The Italian NLSD Group, Elena Maria Pennisi, et al. · Orphanet Journal of Rare Diseases · 94
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A History of the Human Genome Project
2001 · L Roberts, R J Davenport, et al. · Science · 81
Sensory involvement in spinal-bulbar muscular atrophy (Kennedy's disease)
2000 · G. Antonini, F. Gragnani, et al. · Muscle & Nerve · 76
Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy
2008 · Filomena Campagna, Luisa Nanni, et al. · Biochemical and Biophysical Research Communications · 62
Trigeminal small-fibre function assessed with contact heat evoked potentials in humans
2007 · A. Truini, F. Galeotti, et al. · Pain · 61
Expanding the spectrum of genes responsible for hereditary motor neuropathies
2019 · Stefano C. Previtali, Edward Zhao, et al. · Journal of Neurology Neurosurgery & Psychiatry · 57
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Muscle involvement in myasthenia gravis: Expanding the clinical spectrum of Myasthenia-Myositis association from a large cohort of patients
2020 · Matteo Garibaldi, Laura Fionda, et al. · Autoimmunity Reviews · 55
Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function
2012 · Daniela Tavian, Sara Missaglia, et al. · Human Molecular Genetics · 49
An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy
2016 · Nicola Vanacore, Emanuele Rastelli, et al. · Neuroepidemiology · 48
Metabolic lipid muscle disorders: biomarkers and treatment
2019 · Corrado Angelini, Elena Pennisi, et al. · Therapeutic Advances in Neurological Disorders · 45
Lipid Myopathies
2018 · Elena Maria Pennisi, Matteo Garibaldi, et al. · Journal of Clinical Medicine · 44
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Histometric study of myelinated fibers in the human trigeminal nerve
1991 · E. Pennisi, G. Cruccu, et al. · Journal of the Neurological Sciences · 44
Trigeminal isolated sensory neuropathy (TISN) and FOSMN syndrome: despite a dissimilar disease course do they share common pathophysiological mechanisms?
2014 · Giorgio Cruccu, Elena M Pennisi, et al. · BMC Neurology · 39
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Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase
2020 · Eleonora Mauri, Elena Abati, et al. · PubMed · 36
Metabolic Consequences of Adipose Triglyceride Lipase Deficiency in Humans: An In Vivo Study in Patients With Neutral Lipid Storage Disease With Myopathy
2013 · Andrea Natali, Amalia Gastaldelli, et al. · The Journal of Clinical Endocrinology & Metabolism · 32
Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials
2021 · Matteo Garibaldi, Tommaso Nicoletti, et al. · European Journal of Neurology · 27
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Muscle MRI in neutral lipid storage disease (NLSD)
2017 · Matteo Garibaldi, Giorgio Tasca, et al. · Journal of Neurology · 26
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A myopathy with unusual features caused by PNPLA2 gene mutations
2014 · Elena M. Pennisi, Sara Missaglia, et al. · Muscle & Nerve · 25
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL): Neuropathological and in vitro studies of abnormal elastogenesis
1998 · B. Caronti, L Calandriello, et al. · Acta Neurologica Scandinavica · 21
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Ravulizumab for generalized Myasthenia Gravis: a multicenter real-life experience
2025 · Elena Rossini, Vincenzo Di Stefano, et al. · Journal of Neurology · 18
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ATTRv in Lazio-Italy: A High-Prevalence Region in a Non-Endemic Country
2021 · Marco Luigetti, Valeria Guglielmino, et al. · Genes · 16
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Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients
2024 · Claudia Strafella, Domenica Megalizzi, et al. · Clinical Epigenetics · 14
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Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD
2018 · Matteo Garibaldi, Fabiana Fattori, et al. · Acta Neuropathologica Communications · 14
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Post-COVID simultaneous onset of Graves’ disease and ocular myasthenia gravis in a patient with a complex ocular motility impairment
2022 · Laura De Giglio, Federico Sadun, et al. · European Journal of Ophthalmology · 13
Dropped-head in recessive oculopharyngeal muscular dystrophy
2015 · Matteo Garibaldi, Elena Maria Pennisi, et al. · Neuromuscular Disorders · 13
Works count: 103
Citation count: 1,156
H-index: 19
I10-index: 29
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