Chemical composition of selected insect meals and their effect on apparent total tract digestibility, fecal metabolites, and microbiota of adult cats fed insect-based …

LM Reilly, Y Hu, PC Von Schaumburg… - Journal of animal …, 2022 - academic.oup.com
Insect meals are novel and potentially sustainable protein sources. The objectives of this
study were to determine the chemical composition and standardized amino acid digestibility …

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies

BW van Paassen, AJ van der Kooi… - Orphanet journal of rare …, 2014 - Springer
Abstract PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-
Marie-Tooth disease type 1A (CMT1A),(2) PMP22 deletions, leading to Hereditary …

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy

K Neveling, LA Martinez-Carrera, I Hölker… - The American Journal of …, 2013 - cell.com
Spinal muscular atrophy (SMA) is a heterogeneous group of neuromuscular disorders
caused by degeneration of lower motor neurons. Although functional loss of SMN1 is …

Peripheral nervous system (PNS) myelin diseases

SS Scherer, J Svaren - Cold Spring Harbor Perspectives …, 2024 - cshperspectives.cshlp.org
This is a review of inherited and acquired causes of human demyelinating neuropathies and
a subset of disorders that affect axon–Schwann cell interactions. Nearly all inherited …

MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives

G Stuppia, F Rizzo, G Riboldi, R Del Bo… - Journal of the …, 2015 - Elsevier
Abstract Mitofusin 2 (MFN2) is a GTPase dynamin-like protein of the outer mitochondrial
membrane, encoded in the nuclear genome by the MFN2 gene located on the short (p) arm …

New evidence for secondary axonal degeneration in demyelinating neuropathies

KR Moss, TS Bopp, AE Johnson, A Höke - Neuroscience letters, 2021 - Elsevier
Abstract Development of peripheral nervous system (PNS) myelin involves a coordinated
series of events between growing axons and the Schwann cell (SC) progenitors that will …

Charcot–Marie–Tooth diseases: an update and some new proposals for the classification

S Mathis, C Goizet, M Tazir, C Magdelaine… - Journal of medical …, 2015 - jmg.bmj.com
Background Charcot–Marie–Tooth (CMT) disease, the most frequent form of inherited
neuropathy, is a genetically heterogeneous group of disorders of the peripheral nervous …

[HTML][HTML] Hereditary neuropathies: Clinical presentation and genetic panel diagnosis

K Eggermann, B Gess, M Häusler, J Weis… - Deutsches Ärzteblatt …, 2018 - ncbi.nlm.nih.gov
Background Hereditary peripheral neuropathies constitute a large group of genetic
diseases, with an overall prevalence of 1: 2500. In recent years, the use of so-called next …

A practical approach to the genetic neuropathies

AM Rossor, MRB Evans, MM Reilly - Practical neurology, 2015 - pn.bmj.com
Charcot–Marie–Tooth disease is the commonest inherited neuromuscular disease. It is
characterised by degeneration of peripheral sensory and motor nerves and can be classified …

Genotype–phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene

O Sanmaneechai, S Feely, SS Scherer, DN Herrmann… - Brain, 2015 - academic.oup.com
We aimed to characterize genotype–phenotype correlations and establish baseline clinical
data for peripheral neuropathies caused by mutations in the myelin protein zero (MPZ) gene …