Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

W Van Rheenen, A Shatunov, AM Dekker… - Nature …, 2016 - nature.com
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find
associated loci, we assembled a custom imputation reference panel from whole-genome …

[HTML][HTML] Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific …

W Van Rheenen, RAA Van Der Spek, MK Bakker… - Nature …, 2021 - nature.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk
of one in 350 people and an unmet need for disease-modifying therapies. We conducted a …

Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy

L Palmieri, S Alberio, I Pisano, T Lodi… - Human molecular …, 2005 - academic.oup.com
Multiple mitochondrial DNA deletions are associated with clinically heterogeneous disorders
transmitted as mendelian traits. Dominant missense mutations were found in the gene …

[PDF][PDF] Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I

C Guelly, PP Zhu, L Leonardis, L Papić, J Zidar… - The American Journal of …, 2011 - cell.com
Hereditary sensory neuropathy type I (HSN I) is an axonal form of autosomal-dominant
hereditary motor and sensory neuropathy distinguished by prominent sensory loss that …

A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family

DM Georgiou, J Zidar, M Korošec, LT Middleton… - Neurogenetics, 2002 - Springer
Charcot-Marie-Tooth (CMT) disease is the most-common form of inherited motor and
sensory neuropathy. The autosomal dominant axonal form of the disease (CMT2) is …

[HTML][HTML] Differential expression of microRNAs and other small RNAs in muscle tissue of patients with ALS and healthy age-matched controls

A Kovanda, L Leonardis, J Zidar, B Koritnik… - Scientific reports, 2018 - nature.com
Amyotrophic lateral sclerosis is a late-onset disorder primarily affecting motor neurons and
leading to progressive and lethal skeletal muscle atrophy. Small RNAs, including …

[HTML][HTML] Differential Expression of Several miRNAs and the Host Genes AATK and DNM2 in Leukocytes of Sporadic ALS Patients

K Vrabec, E Boštjančič, B Koritnik… - Frontiers in Molecular …, 2018 - frontiersin.org
Genetic studies have managed to explain many cases of familial amyotrophic lateral
sclerosis (ALS) through mutations in several genes. However, the cause of a majority of …

Decreased movement-related beta desynchronization and impaired post-movement beta rebound in amyotrophic lateral sclerosis

N Bizovičar, J Dreo, B Koritnik, J Zidar - Clinical neurophysiology, 2014 - Elsevier
Objective This study explored event-related desynchronization (ERD) and synchronization
(ERS) in amyotrophic lateral sclerosis (ALS) to quantify cortical sensorimotor processes …

Hereditary auditory, vestibular, motor, and sensory neuropathy in a Slovenian Roma (Gypsy) kindred

D Butinar, J Zidar, L Leonardis, M Popovic… - Annals of …, 1999 - Wiley Online Library
Abstract Members of a Roma (Gypsy) family with hereditary motor and sensory peripheral
neuropathy (HMSN) and concomitant auditory and vestibular cranial neuropathies were …

Quantitative EMG and muscle tension in painful muscles in fibromyalgia

J Zidar, E Bäckman, A Bengtsson, KG Henriksson - Pain, 1990 - journals.lww.com
Examinations were performed in 22 female fibromyalgic patients and in 9 healthy controls.
The biceps brachii, trapezius, and tibial anterior muscles were examined …