Detalhe da pesquisa
1.
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis.
Hum Mol Genet
; 30(1): 65-71, 2021 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33445179
2.
IRF2BPL: A new genotype for progressive myoclonus epilepsies.
Epilepsia
; 64(8): e164-e169, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36810721
3.
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
Hum Genet
; 140(9): 1299-1312, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34185153
4.
A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile.
Am J Med Genet A
; 182(10): 2377-2383, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32744787
5.
Expanding the spectrum of SPTLC1-related disorders beyond hereditary sensory and autonomic neuropathies: A novel case of the distinct "S331 syndrome".
J Peripher Nerv Syst
; 25(3): 308-311, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32470188
6.
Multiple melanomas in ichthyosis with confetti: One more piece of evidence.
Australas J Dermatol
; 64(4): 576-578, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37577813
7.
A novel homozygous mutation in TBK1 gene causing ALS-FTD.
Neurol Sci
; 43(3): 2101-2104, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35028775
8.
A Case of Constipation That Passed From Father to Son.
Gastroenterology
; 155(5): 1317-1318, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29653149
9.
A novel SLC20A2 gene mutation causing primary familial brain calcification in an Ukrainian patient.
Neurol Sci
; 40(6): 1283-1285, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30607525
10.
Tryptamine levels are low in plasma of chronic migraine and chronic tension-type headache.
Neurol Sci
; 35(12): 1941-5, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25016960
11.
Delayed Bone Age in a Child with a Novel Loss-of-Function Variant in SETBP1 Gene Sheds Light on the Potential Role of SETBP1 Protein in Skeletal Development.
Mol Syndromol
; 15(2): 167-174, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585550
12.
Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.
J Neurol
; 271(4): 1921-1936, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38112783
13.
Cerebral Lymphoproliferation in a Patient with Kabuki Syndrome.
J Clin Immunol
; 38(4): 475-477, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29846842
14.
Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice site mutation.
J Hum Genet
; 63(6): 779-781, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29568000
15.
The role of tyrosine metabolism in the pathogenesis of chronic migraine.
Cephalalgia
; 33(11): 932-7, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23493762
16.
Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene.
Genes (Basel)
; 14(5)2023 05 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37239440
17.
NFIA haploinsufficiency: case series and literature review.
Front Pediatr
; 11: 1292654, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37915986
18.
Is migraine a risk factor for the occurrence of eating disorders? Prevalence and biochemical evidences.
Neurol Sci
; 33 Suppl 1: S71-6, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22644175
19.
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.
Genes (Basel)
; 13(7)2022 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35885913
20.
Migraine with aura: conventional and non-conventional treatments.
Neurol Sci
; 32 Suppl 1: S121-9, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21533727