Diagnosis, natural history, and management of Charcot–Marie–Tooth disease

D Pareyson, C Marchesi - The Lancet Neurology, 2009 - thelancet.com
Charcot–Marie–Tooth disease is the most common inherited neuromuscular disorder.
There have been substantial advances in elucidating the molecular bases of this genetically …

Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease

D Pareyson, V Scaioli, M Laura - Neuromolecular medicine, 2006 - Springer
Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous group of disorders sharing
the same clinical phenotype, characterized by distal limb muscle wasting and weakness, …

Sensory neuron diseases

A Sghirlanzoni, D Pareyson, G Lauria - The Lancet Neurology, 2005 - thelancet.com
Sensory neuron diseases (SND) are a distinct subgroup of peripheral-nervous-system diseases,
first acknowledged in 1948. Acquired SND have a subacute or chronic course and are …

[PDF][PDF] Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage

…, L Canafoglia, M Morbin, G Rossi, D Pareyson… - The American Journal of …, 2012 - cell.com
We performed hypothesis-free linkage analysis and exome sequencing in a family with two
siblings who had neuronal ceroid lipofuscinosis (NCL). Two linkage peaks with maximum …

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

V Fridman, B Bundy, MM Reilly, D Pareyson… - Journal of Neurology …, 2015 - jnnp.bmj.com
Background The international Inherited Neuropathy Consortium (INC) was created with the
goal of obtaining much needed natural history data for patients with Charcot-Marie-Tooth (…

Reliability of the CMT neuropathy score (second version) in Charcot‐Marie‐Tooth disease

…, ME Shy, MM Reilly, D Pareyson - Journal of the …, 2011 - Wiley Online Library
The Charcot‐Marie‐Tooth neuropathy score (CMTNS) is a reliable and valid composite
score comprising symptoms, signs, and neurophysiological tests, which has been used in …

[HTML][HTML] Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial

D Pareyson, MM Reilly, A Schenone… - The Lancet …, 2011 - thelancet.com
Background Ascorbic acid reduced the severity of neuropathy in transgenic mice overexpressing
peripheral myelin protein 22 (PMP22), a model of Charcot–Marie–Tooth disease type …

Axonal swellings predict the degeneration of epidermal nerve fibers in painful neuropathies

…, M Borgna, G Mazzoleni, A Sghirlanzoni, D Pareyson - Neurology, 2003 - AAN Enterprises
Objective: To correlate the density of swellings in intraepidermal nerve fibers (IENF) with the
longitudinal measurement of the epidermal innervation density in patients with painful …

Polyneuropathy in POEMS syndrome: role of angiogenic factors in the pathogenesis

M Scarlato, SC Previtali, M Carpo, D Pareyson… - Brain, 2005 - academic.oup.com
… (D and E) Electron micrograph sections of POEMS sural nerve (case 6). (D) Endothelial
cytoplasmic enlargement and gap between endothelial cells and microfilaments within an …

Intravenous immunoglobulin versus intravenous methylprednisolone for chronic inflammatory demyelinating polyradiculoneuropathy: a randomised controlled trial

…, F Gallia, A Schenone, A Francia, D Pareyson… - The Lancet …, 2012 - thelancet.com
Background Intravenous immunoglobulin (IVIg) and corticosteroids are effective as initial
treatment in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), …