[HTML][HTML] Genetics of Charcot-Marie-Tooth (CMT) disease within the frame of the human genome project success

V Timmerman, AV Strickland, S Züchner - Genes, 2014 - mdpi.com
Charcot-Marie-Tooth (CMT) neuropathies comprise a group of monogenic disorders
affecting the peripheral nervous system. CMT is characterized by a clinically and genetically …

Role of plectin in cytoskeleton organization and dynamics

G Wiche - Journal of cell science, 1998 - journals.biologists.com
Plectin and its isoforms are versatile cytoskeletal linker proteins of very large size (> 500
kDa) that are abundantly expressed in a wide variety of mammalian tissues and cell types …

N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy–Lom

L Kalaydjieva, D Gresham, R Gooding… - The American Journal of …, 2000 - cell.com
Hereditary motor and sensory neuropathies, to which Charcot-Marie-Tooth (CMT) disease
belongs, are a common cause of disability in adulthood. Growing awareness that axonal …

Atypical antipsychotic drugs and risk of ischaemic stroke: population based retrospective cohort study

SS Gill, PA Rochon, N Herrmann, PE Lee, K Sykora… - Bmj, 2005 - bmj.com
Objective To compare the incidence of admissions to hospital for stroke among older adults
with dementia receiving atypical or typical antipsychotics. Design Population based …

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie …

H Azzedine, A Bolino, T Taieb, N Birouk… - The American Journal of …, 2003 - cell.com
Charcot-Marie-Tooth disease (CMT) with autosomal recessive (AR) inheritance is a
heterogeneous group of inherited motor and sensory neuropathies. In some families from …

Origins and divergence of the Roma (gypsies)

D Gresham, B Morar, PA Underhill, G Passarino… - The American Journal of …, 2001 - cell.com
The identification of a growing number of novel Mendelian disorders and private mutations
in the Roma (Gypsies) points to their unique genetic heritage. Linguistic evidence suggests …

NDRG1, a growth and cancer related gene: regulation of gene expression and function in normal and disease states

TP Ellen, Q Ke, P Zhang, M Costa - Carcinogenesis, 2008 - academic.oup.com
N-myc downstream-regulated gene 1 (NDRG1) is an intracellular protein that is induced
under a wide variety of stress and cell growth-regulatory conditions. NDRG1 is up-regulated …

Molecular functions of the iron-regulated metastasis suppressor, NDRG1, and its potential as a molecular target for cancer therapy

BA Fang, Ž Kovačević, KC Park, DS Kalinowski… - … et Biophysica Acta (BBA …, 2014 - Elsevier
N-myc down-regulated gene 1 (NDRG1) is a known metastasis suppressor in multiple
cancers, being also involved in embryogenesis and development, cell growth and …

Genetic studies of the Roma (Gypsies): a review

L Kalaydjieva, D Gresham, F Calafell - BMC medical genetics, 2001 - Springer
Background Data provided by the social sciences as well as genetic research suggest that
the 8-10 million Roma (Gypsies) who live in Europe today are best described as a …

Characterization of the human NDRG gene family: a newly identified member, NDRG4, is specifically expressed in brain and heart

RH Zhou, K Kokame, Y Tsukamoto, C Yutani, H Kato… - Genomics, 2001 - Elsevier
RTP/Drg1/Cap43/rit42/TDD5/Ndr1/NDRG1 (referred to as NDRG1 hereafter) is a
cytoplasmic protein involved in stress responses, hormone responses, cell growth, and …