Helio Van der Linden Jr
Overview
Explore the profile of Helio Van der Linden Jr including associated specialties, affiliations and a list of published articles.
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16
Citations
255
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Recent Articles
1.
Camelo C, Moreno C, Artilheiro M, Fonseca A, Gurgel Gianetti J, Barbosa A, et al.
Clin Genet
. 2024 May;
106(3):305-314.
PMID: 38747280
LAMA2-related dystrophies (LAMA2-RD) constitute a rare neuromuscular disorder with a broad spectrum of phenotypic severity. Our understanding of the genotype-phenotype correlations in this condition remains incomplete, and reliable clinical data...
2.
Zanoteli E, Araujo A, Becker M, Fortes C, Franca Jr M, Machado-Costa M, et al.
Arq Neuropsiquiatr
. 2024 Feb;
82(1):1-18.
PMID: 38316428
Spinal muscular atrophy linked to chromosome 5 (SMA-5q) is an autosomal recessive genetic disease caused by mutations in the . SMA-5q is characterized by progressive degeneration of the spinal cord...
3.
Tolezano G, Bastos G, da Costa S, Scliar M, de Souza C, Van der Linden Jr H, et al.
Mol Neurobiol
. 2024 Jan;
61(8):5230-5247.
PMID: 38180615
Microcephaly is characterized by an occipitofrontal circumference at least two standard deviations below the mean for age and sex. Neurodevelopmental disorders (NDD) are commonly associated with microcephaly, due to perturbations...
4.
Van der Linden Jr H, Pessoa A, van der Linden A, Florencio R, Carvalho M, Van der Linden V
J Clin Neurophysiol
. 2022 Jan;
39(4):248-252.
PMID: 34999638
The congenital Zika syndrome is a new entity of a group of etiologies that can lead to microcephaly and other brain damages during pregnancy, such as toxoplasmosis, rubeola, cytomegalovirus, and...
5.
Vincentiis S, Alcantara J, Rzezak P, Kerr D, Gattaz W, Van der Linden Jr H, et al.
Epilepsy Behav
. 2021 Feb;
117:107854.
PMID: 33639436
Background: Mood disorders are the most frequent psychiatric disorders in patients with temporal lobe epilepsy caused by hippocampal sclerosis (TLE-HS). The pathophysiological mechanisms in common between TLE and mood disorders...
6.
Uggenti C, Lepelley A, Depp M, Badrock A, Rodero M, El-Daher M, et al.
Nat Genet
. 2020 Nov;
52(12):1364-1372.
PMID: 33230297
Inappropriate stimulation or defective negative regulation of the type I interferon response can lead to autoinflammation. In genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, we identified biallelic...
7.
Van der Linden Jr H, Van der Linden V, Pessoa A, Valente K
Epilepsia
. 2020 Aug;
61(9):e107-e115.
PMID: 32820832
Congenital Zika virus syndrome (CZVS) is associated with severe neurological deficits. Clinical characteristics of epilepsy and the electroencephalographic (EEG) pattern in CZVS were documented in infancy. In this study, we...
8.
Maselli R, Van der Linden Jr H, Ferns M
Am J Med Genet A
. 2020 Apr;
182(7):1744-1749.
PMID: 32250532
Defects in the gene encoding synaptotagmin 2 (SYT2) have been linked to a presynaptic congenital myasthenic syndrome (CMS) and motor neuropathies. However, to date only dominant forms of the disease...
9.
ODonnell-Luria A, Pais L, Faundes V, Wood J, Sveden A, Luria V, et al.
Am J Hum Genet
. 2019 May;
104(6):1210-1222.
PMID: 31079897
We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and...
10.
Van der Linden V, de Lima Petribu N, Pessoa A, Faquini I, Paciorkowski A, Van der Linden Jr H, et al.
JAMA Neurol
. 2018 Nov;
76(2):203-210.
PMID: 30452526
Importance: Hydrocephalus is a treatable but potentially fatal complication that has not been previously described in congenital Zika syndrome (CZS). Objective: To describe the clinical features and imaging findings in...