Detalhe da pesquisa
1.
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
Cell Mol Life Sci
; 79(6): 305, 2022 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35593933
2.
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.
Brain
; 144(2): 411-419, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33313762
3.
Spinal muscular atrophy: epidemiology and health burden in children - a Polish national healthcare database perspective before introduction of SMA-specific treatment.
Neurol Neurochir Pol
; 55(5): 479-484, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34664710
4.
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.
Am J Hum Genet
; 99(1): 188-94, 2016 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27292112
5.
[Cerebral salt wasting syndrome as a complication of subarachnoid hemorrhage in a girl with nephrotic syndrome - a case report]. / Mózgowy zespól utraty soli jako powiklanie krwawienia podpajeczynówkowego u dziewczynki z zespolem nerczycowym opis przypadku.
Pol Merkur Lekarski
; 47(278): 72-75, 2019 Aug 30.
Artigo
em Polonês
| MEDLINE | ID: mdl-31473757
6.
Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines.
Clin Genet
; 94(6): 581-585, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30238967
7.
Proteomics in the Diagnosis of Inborn Encephalopathies of Unknown Origin: A Myth or Reality.
Adv Exp Med Biol
; 1040: 83-99, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-28983862
8.
A novel KEL c.1414-1G>T allele in a polish patient with anti-Ku antibody.
Transfusion
; 62(9): E43-E44, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35932201
9.
Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression.
Adv Exp Med Biol
; 980: 59-66, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28293831
10.
Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy.
Am J Med Genet A
; 170(12): 3265-3270, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27605359
11.
Age and Gender-Related Changes in Biogenic Amine Metabolites in Cerebrospinal Fluid in Children.
Adv Exp Med Biol
; 878: 73-82, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26453071
12.
Inherited disorders of brain neurotransmitters: pathogenesis and diagnostic approach.
Adv Exp Med Biol
; 837: 1-8, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25310959
13.
[Autism spectrum disorders - epidemiology, symptoms, comorbidity and diagnosis]. / Zaburzenia ze spektrum autyzmu - epidemiologia, objawy, wspólzachorowalnosc i rozpoznawanie.
Psychiatr Pol
; 48(4): 653-65, 2014.
Artigo
em Polonês
| MEDLINE | ID: mdl-25314794
14.
Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment.
Neurotherapeutics
; 21(1): e00296, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38241158
15.
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.
Ann Neurol
; 71(4): 520-30, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22522443
16.
Autoimmune Neurological Disorder with Anti-Ma2/Ta Antibodies in a Pediatric Patient.
Isr Med Assoc J
; 20(10): 653-655, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30324788
17.
The case of fatal acute hemorrhagic necrotizing encephalitis in a two-month-old boy with Covid-19.
Int J Infect Dis
; 116: 151-153, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34929359
18.
FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood.
Mol Genet Genomic Med
; 10(4): e1899, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35255187
19.
Kabuki Syndrome-Clinical Review with Molecular Aspects.
Genes (Basel)
; 12(4)2021 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33805950
20.
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.
Mol Genet Genomic Med
; 9(9): e1772, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34342181