Detalhe da pesquisa
1.
Functional properties of measles virus proteins derived from a subacute sclerosing panencephalitis patient who received repeated remdesivir treatments.
J Virol
; 98(3): e0187423, 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38329336
2.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Am J Hum Genet
; 105(2): 384-394, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256876
3.
Kohlschütter-Tönz syndrome: Case report with novel feature and detailed review of features associated with ROGDI variants.
Am J Med Genet A
; 188(4): 1263-1279, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34939736
4.
Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients.
J Neuroinflammation
; 17(1): 262, 2020 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32883358
5.
Clinical and neurophysiological spectrum of polyneuropathies in children.
Neurol Neurochir Pol
; 54(5): 466-470, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32939748
6.
Children with multiphasic disseminated encephalomyelitis and antibodies to the myelin oligodendrocyte glycoprotein (MOG): Extending the spectrum of MOG antibody positive diseases.
Mult Scler
; 22(14): 1821-1829, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-26869530
7.
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
BMC Musculoskelet Disord
; 17: 200, 2016 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27142102
8.
The Beneficial Outcome of Subsequent Treatment with Anakinra during the Chronic Phase of Febrile Infection-Related Epilepsy Syndrome (FIRES): A Case Report.
Neurol Int
; 15(4): 1489-1496, 2023 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38132976
9.
Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRES.
Neuropediatrics
; 43(4): 209-16, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22911482
10.
Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel study.
J Med Econ
; 25(1): 808-816, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35642753
11.
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia.
Neurol Genet
; 8(3): e685, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36381256
12.
Case Report: Two Families With HPDL Related Neurodegeneration.
Front Genet
; 13: 780764, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35222531
13.
Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome.
Neurol Neuroimmunol Neuroinflamm
; 9(6)2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36229191
14.
Acute psychosis due to non-paraneoplastic anti-NMDA-receptor encephalitis in a teenage girl: Case report.
Psych J
; 4(4): 226-30, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26663628
15.
Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy.
Case Rep Neurol Med
; 2013: 254950, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24024053