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1.
Clinical diagnosis of neurofibromatosis type I in multiple family members due to cosegregation of a unique balanced translocation with disruption of the NF1 locus: Testing considerations for accurate diagnosis.
Am J Med Genet A
; 185(4): 1222-1227, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33415784
2.
RNA-binding ability of FUS regulates neurodegeneration, cytoplasmic mislocalization and incorporation into stress granules associated with FUS carrying ALS-linked mutations.
Hum Mol Genet
; 22(6): 1193-205, 2013 Mar 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-23257289
3.
Relay of retrograde synaptogenic signals through axonal transport of BMP receptors.
J Cell Sci
; 125(Pt 16): 3752-64, 2012 Aug 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-22573823
4.
Survey-Reported Coverage in 2019-2022 and Implications for Unwinding Medicaid Continuous Eligibility.
JAMA Health Forum
; 5(4): e240430, 2024 Apr 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38578627
5.
Evidence-based review of genomic aberrations in diffuse large B cell lymphoma, not otherwise specified (DLBCL, NOS): Report from the cancer genomics consortium lymphoma working group.
Cancer Genet
; 268-269: 1-21, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35970109
6.
Author Correction: Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy.
Nat Med
; 30(3): 909-910, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38191617
7.
Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy.
Nat Med
; 24(4): 427-437, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29505030
8.
Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations.
Neuron
; 81(3): 536-543, 2014 Feb 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-24507191
9.
VCP is essential for mitochondrial quality control by PINK1/Parkin and this function is impaired by VCP mutations.
Neuron
; 78(1): 65-80, 2013 Apr 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-23498974
10.
Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy.
Neuron
; 67(6): 936-52, 2010 Sep 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-20869592
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