Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms

MS Van der Knaap, M Bugiani - Acta neuropathologica, 2017 - Springer
Leukodystrophies are genetically determined disorders characterized by the selective
involvement of the central nervous system white matter. Onset may be at any age, from …

Genetics and pathogenesis of dystonia

M Thomsen, LM Lange, M Zech… - Annual Review of …, 2024 - annualreviews.org
Dystonia is a clinically and genetically highly heterogeneous neurological disorder
characterized by abnormal movements and postures caused by involuntary sustained or …

[HTML][HTML] Três gerações de políticas públicas para a agricultura familiar e formas de interação entre sociedade e estado no Brasil

C Grisa, S Schneider - Revista de economia e sociologia rural, 2014 - SciELO Brasil
Este artigo analisa a trajetória de construção de políticas públicas para a agricultura familiar
no Brasil, procurando enfatizar as" gerações" ou referenciais de políticas públicas …

Microtubule dysfunction: a common feature of neurodegenerative diseases

A Sferra, F Nicita, E Bertini - International journal of molecular sciences, 2020 - mdpi.com
Neurons are particularly susceptible to microtubule (MT) defects and deregulation of the MT
cytoskeleton is considered to be a common insult during the pathogenesis of …

NGS technologies as a turning point in rare disease research, diagnosis and treatment

A Fernandez-Marmiesse, S Gouveia… - Current medicinal …, 2018 - ingentaconnect.com
Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian
population have a rare disease. Rare diseases are thus a common problem for clinicians …

Neurodegeneration and microtubule dynamics: death by a thousand cuts

J Dubey, N Ratnakaran, SP Koushika - Frontiers in cellular …, 2015 - frontiersin.org
Microtubules form important cytoskeletal structures that play a role in establishing and
maintaining neuronal polarity, regulating neuronal morphology, transporting cargo, and …

The focal dystonias: current views and challenges for future research

HA Jinnah, A Berardelli, C Comella… - Movement …, 2013 - Wiley Online Library
The most common forms of dystonia are those that develop in adults and affect a relatively
isolated region of the body. Although these adult‐onset focal dystonias are most prevalent …

[HTML][HTML] Next generation sequencing and the future of genetic diagnosis

K Lohmann, C Klein - Neurotherapeutics, 2014 - Elsevier
The introduction of next generation sequencing (NGS) has led to an exponential increase of
elucidated genetic causes in both extremely rare diseases and common but heterogeneous …

Pallidal deep brain stimulation for monogenic dystonia: the effect of gene on outcome

S Tisch, KR Kumar - Frontiers in neurology, 2021 - frontiersin.org
Globus pallidus internus deep brain stimulation (GPi DBS) is the most effective intervention
for medically refractory segmental and generalized dystonia in both children and adults …

The emerging role of the tubulin code: From the tubulin molecule to neuronal function and disease

S Chakraborti, K Natarajan, J Curiel, C Janke… - …, 2016 - Wiley Online Library
Across different cell types and tissues, microtubules are assembled from highly conserved
dimers of α‐and β‐tubulin. Despite their highly similar structures, microtubules have …