Detalhe da pesquisa
1.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(1): 96-118, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181735
2.
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system.
Proc Natl Acad Sci U S A
; 120(4): e2209964120, 2023 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669111
3.
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Brain
; 146(10): 4336-4349, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37284795
4.
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy.
Am J Med Genet A
; 191(3): 776-785, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36537114
5.
European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain-Barré syndrome.
Eur J Neurol
; 30(12): 3646-3674, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37814552
6.
Measuring Metal-Metal Communication in a Series of Ketimide-Bridged [Fe2]6+ Complexes.
Inorg Chem
; 62(30): 11829-11836, 2023 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37462407
7.
An innovative phase 2 proof-of-concept trial design to evaluate SAR445088, a monoclonal antibody targeting complement C1s in chronic inflammatory demyelinating polyneuropathy.
J Peripher Nerv Syst
; 28(2): 276-285, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37119056
8.
European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain-Barré syndrome.
J Peripher Nerv Syst
; 28(4): 535-563, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37814551
9.
An Activity-Based Oxaziridine Platform for Identifying and Developing Covalent Ligands for Functional Allosteric Methionine Sites: Redox-Dependent Inhibition of Cyclin-Dependent Kinase 4.
J Am Chem Soc
; 144(50): 22890-22901, 2022 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36484997
10.
Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.
Hum Mol Genet
; 29(5): 705-715, 2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600777
11.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38723631
12.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(4): 805, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508193
13.
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Am J Med Genet A
; 188(6): 1868-1874, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35194938
14.
A novel, de novo intronic variant in POGZ causes White-Sutton syndrome.
Am J Med Genet A
; 188(7): 2198-2203, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35396900
15.
Treatment of chronic inflammatory demyelinating polyneuropathy.
Muscle Nerve
; 66(5): 552-557, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35994242
16.
Diagnosis of chronic inflammatory demyelinating polyneuropathy.
Muscle Nerve
; 66(5): 545-551, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36259623
17.
A randomized placebo-controlled phase 3 study of mesenchymal stem cells induced to secrete high levels of neurotrophic factors in amyotrophic lateral sclerosis.
Muscle Nerve
; 65(3): 291-302, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34890069
18.
Analysis of relapse by inflammatory Rasch-built overall disability scale status in the PATH study of subcutaneous immunoglobulin in chronic inflammatory demyelinating polyneuropathy.
J Peripher Nerv Syst
; 27(2): 159-165, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266243
19.
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
Am J Hum Genet
; 102(6): 1126-1142, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29805043
20.
Myasthenia gravis exacerbation in association with antibody overshoot following plasmapheresis.
Muscle Nerve
; 64(4): 483-487, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34076268