Suchergebnisse - "Pennisi, Elena Maria"

1

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

von: Pennisi, Elena Maria

2017, in: Orphanet journal of rare diseases

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2

Dropped-head in recessive oculopharyngeal muscular dystrophy

von: Garibaldi, Matteo

2015, in: Sperm competition in golden cuttlefish

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3

Muscle involvement in myasthenia gravis: Expanding the clinical spectrum of Myasthenia-Myositis association from a large cohort of patients

von: Garibaldi, Matteo

2020transfer abstract, in: Synthesis and anti-hepatitis B virus activity of acyclovir conjugated stearic acid-g-chitosan oligosaccharide micelle

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4

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

von: Garibaldi, Matteo

2018, in: Acta Neuropathologica Communications

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5

Novel

von: Garibaldi, Matteo

2020, in: Neuromuscular disorders

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6

Muscle MRI in neutral lipid storage disease (NLSD)

von: Garibaldi, Matteo

2017, in: Journal of neurology

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7

Erratum to: Muscle MRI in neutral lipid storage disease (NLSD)

von: Garibaldi, Matteo

2017, in: Journal of neurology

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8

Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients

von: Strafella, Claudia

2024, in: Clinical epigenetics

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