Detalhe da pesquisa
1.
Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy.
Nature
; 618(7964): 402-410, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37225994
2.
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
; 614(7948): 564-571, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36755093
3.
Single-cell, whole-embryo phenotyping of mammalian developmental disorders.
Nature
; 623(7988): 772-781, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37968388
4.
Swarm Learning for decentralized and confidential clinical machine learning.
Nature
; 594(7862): 265-270, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040261
5.
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.
Am J Hum Genet
; 109(8): 1436-1457, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35907405
6.
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia.
Genet Med
; 26(7): 101143, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38641995
7.
Peripheral temperature dysregulation associated with functionally altered NaV1.8 channels.
Pflugers Arch
; 475(11): 1343-1355, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37695396
8.
Formation of new chromatin domains determines pathogenicity of genomic duplications.
Nature
; 538(7624): 265-269, 2016 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27706140
9.
Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution.
Hum Mol Genet
; 28(4): 615-627, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30339187
10.
Genome sequencing in families with congenital limb malformations.
Hum Genet
; 140(8): 1229-1239, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34159400
11.
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
Brain
; 143(8): 2406-2420, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32779703
12.
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Brain
; 143(8): 2437-2453, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32761064
13.
Regulation of endoplasmic reticulum turnover by selective autophagy.
Nature
; 522(7556): 354-8, 2015 Jun 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26040720
14.
Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies.
Clin Genet
; 98(4): 408-412, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32720325
15.
A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways.
Cell Mol Life Sci
; 76(7): 1433-1445, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30666337
16.
Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.
Hum Mutat
; 40(1): 106-114, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30371979
17.
Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.
PLoS Genet
; 12(12): e1006461, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27923065
18.
Genetic Variants in the Promoter Region of the Macrophage Migration Inhibitory Factor are Associated with the Severity of Hepatitis C Virus-Induced Liver Fibrosis.
Int J Mol Sci
; 20(15)2019 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-31370326
19.
A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV).
Neuroophthalmology
; 43(5): 310-312, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31741675
20.
[Neuropathic pain syndromes and channelopathies]. / Neuropathische Schmerzsyndrome bei Ionenkanalerkrankungen.
Internist (Berl)
; 60(1): 90-97, 2019 Jan.
Artigo
em Alemão
| MEDLINE | ID: mdl-30564884