2023 ESC Guidelines for the management of cardiomyopathies: Developed by the task force on the management of cardiomyopathies of the European Society of …

E Arbelo, A Protonotarios, JR Gimeno… - European heart …, 2023 - academic.oup.com
• The specific situation of the patient. Unless otherwise provided for by national regulations,
off-label use of medication should be limited to situations where it is in the patient's interest …

The neural mechanisms of manual dexterity

AR Sobinov, SJ Bensmaia - Nature Reviews Neuroscience, 2021 - nature.com
The hand endows us with unparalleled precision and versatility in our interactions with
objects, from mundane activities such as grasping to extraordinary ones such as virtuoso …

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

A Cortese, R Simone, R Sullivan, J Vandrovcova… - Nature …, 2019 - nature.com
Late-onset ataxia is common, often idiopathic, and can result from cerebellar, proprioceptive,
or vestibular impairment; when in combination, it is also termed cerebellar ataxia …

A wearable motion capture suit and machine learning predict disease progression in Friedreich's ataxia

B Kadirvelu, C Gavriel, S Nageshwaran, JPK Chan… - Nature medicine, 2023 - nature.com
Friedreichʼs ataxia (FA) is caused by a variant of the Frataxin (FXN) gene, leading to its
downregulation and progressively impaired cardiac and neurological function. Current gold …

Repeat expansion diseases

H Paulson - Handbook of clinical neurology, 2018 - Elsevier
More than 40 diseases, most of which primarily affect the nervous system, are caused by
expansions of simple sequence repeats dispersed throughout the human genome …

Detection of long repeat expansions from PCR-free whole-genome sequence data

E Dolzhenko, JJ Van Vugt, RJ Shaw… - Genome …, 2017 - genome.cshlp.org
Identifying large expansions of short tandem repeats (STRs), such as those that cause
amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read …

Management of cardiac involvement associated with neuromuscular diseases: a scientific statement from the American Heart Association

B Feingold, WT Mahle, S Auerbach, P Clemens… - Circulation, 2017 - Am Heart Assoc
For many neuromuscular diseases (NMDs), cardiac disease represents a major cause of
morbidity and mortality. The management of cardiac disease in NMDs is made challenging …

[HTML][HTML] Mitochondrial optic neuropathies–disease mechanisms and therapeutic strategies

P Yu-Wai-Man, PG Griffiths, PF Chinnery - Progress in retinal and eye …, 2011 - Elsevier
Leber hereditary optic neuropathy (LHON) and autosomal-dominant optic atrophy (DOA) are
the two most common inherited optic neuropathies in the general population. Both disorders …

The role of Nrf2 in neural stem/progenitors cells: From maintaining stemness and self-renewal to promoting differentiation capability and facilitating therapeutic …

H Kahroba, B Ramezani, H Maadi, MR Sadeghi… - Ageing research …, 2021 - Elsevier
Neurodegenerative diseases (NDs) cause progressive loss of neurons in nervous system.
NDs are categorized as acute NDs such as stroke and head injury, besides chronic NDs …

Trinucleotide repeat disorders

HT Orr, HY Zoghbi - Annu. Rev. Neurosci., 2007 - annualreviews.org
The discovery that expansion of unstable repeats can cause a variety of neurological
disorders has changed the landscape of disease-oriented research for several forms of …