[HTML][HTML] Functional genomics and small molecules in mitochondrial neurodevelopmental disorders
DG Calame, LT Emrick - Neurotherapeutics, 2024 - Elsevier
Mitochondria are critical for brain development and homeostasis. Therefore, pathogenic
variation in the mitochondrial or nuclear genome which disrupts mitochondrial function …
variation in the mitochondrial or nuclear genome which disrupts mitochondrial function …
Movement disorders in hereditary spastic paraplegias
JL Pedroso, TC Vale, JL de Freitas… - Arquivos de Neuro …, 2023 - thieme-connect.com
Background Hereditary or familial spastic paraplegias (SPG) comprise a group of genetically
and phenotypically heterogeneous diseases characterized by progressive degeneration of …
and phenotypically heterogeneous diseases characterized by progressive degeneration of …
[HTML][HTML] ENTPD1-Related Neurodevelopmental Disorder
D Calame, I Herman - 2023 - europepmc.org
ENTPD1-related neurodevelopmental disorder (ENTPD1-NDD) is characterized by
developmental delay/intellectual disability (ranging from borderline/mild to moderate/severe) …
developmental delay/intellectual disability (ranging from borderline/mild to moderate/severe) …
Molecular genetic mechanisms of neurodevelopmental and neurodegenerative disease
The most common consequence of pathogenic genetic variation is neurological dysfunction.
Neurologists, neuroscientists, medical geneticists, pediatricians, and internal medicine …
Neurologists, neuroscientists, medical geneticists, pediatricians, and internal medicine …
Caracterização clínico genética e através de métodos avançados de neuroimagem das paraparesias espásticas hereditárias
H Fussiger - 2024 - lume.ufrgs.br
Introdução: As paraparesias espásticas hereditárias (PEH) constituem um grupo de
doenças neurodegenerativas monogênicas com grande heterogeneidade clínica e …
doenças neurodegenerativas monogênicas com grande heterogeneidade clínica e …
Estudio integrado de la metilación y expresión génica en sangre y búsqueda de marcas potencialmente asociadas a la enfermedad de Parkinson
G Paz López - 2023 - openaccess.uoc.edu
La enfermedad de Parkinson es la segunda enfermedad neurodegenerativa más común,
por detrás del Alzheimer, y está caracterizada por una degeneración de las neuronas …
por detrás del Alzheimer, y está caracterizada por una degeneración de las neuronas …
[HTML][HTML] ENTPD1-Related Neurodevelopmental Disorder Synonyms: Autosomal Recessive Spastic Paraplegia 64, HSP-ENTPD1, Spastic Paraplegia 64 (SPG64)
MRI Brain - europepmc.org
ENTPD1-related neurodevelopmental disorder (ENTPD1-NDD) is characterized by
developmental delay/intellectual disability (ranging from borderline/mild to moderate/severe) …
developmental delay/intellectual disability (ranging from borderline/mild to moderate/severe) …