Detalhe da pesquisa
1.
TP53 DNA binding domain mutational status and rituximab-based treatment are independent prognostic factors for pediatric Burkitt lymphoma patients stratification.
Haematologica
; 2024 Feb 22.
Artigo
Inglês
| MEDLINE | ID: mdl-38385281
2.
Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant.
Clin Genet
; 104(5): 604-606, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37356817
3.
Brain MRI shows white matter sparing in Kennedy's disease and slow-progressing lower motor neuron disease.
Hum Brain Mapp
; 40(10): 3102-3112, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30924230
4.
Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice.
Brain
; 140(11): 2797-2805, 2017 Nov 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29053787
5.
Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients.
J Neurol Neurosurg Psychiatry
; 87(8): 810-6, 2016 08.
Artigo
Inglês
| MEDLINE | ID: mdl-26503015
6.
Validation of the Italian version of the SBMA Functional Rating Scale as outcome measure.
Neurol Sci
; 37(11): 1815-1821, 2016 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-27444956
7.
The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA).
Sci Rep
; 13(1): 17311, 2023 10 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37828349
8.
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Nat Commun
; 13(1): 2306, 2022 04 28.
Artigo
Inglês
| MEDLINE | ID: mdl-35484142
9.
Analysis of complete mitochondrial genomes of patients with schizophrenia and bipolar disorder.
J Hum Genet
; 56(12): 869-72, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-21993419
10.
A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis.
Clin Case Rep
; 8(12): 3079-3081, 2020 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-33363884
11.
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
J Neurol
; 267(5): 1414-1419, 2020 May.
Artigo
Inglês
| MEDLINE | ID: mdl-31997039
12.
Safety and efficacy of edaravone compared to historical controls in patients with amyotrophic lateral sclerosis from North-Eastern Italy.
J Neurol Sci
; 404: 47-51, 2019 Sep 15.
Artigo
Inglês
| MEDLINE | ID: mdl-31325668
13.
Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy.
Neurology
; 92(11): e1205-e1211, 2019 03 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30787165
14.
The clinical spectrum of CASQ1-related myopathy.
Neurology
; 91(17): e1629-e1641, 2018 10 23.
Artigo
Inglês
| MEDLINE | ID: mdl-30258016
15.
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.
Neurology
; 84(17): 1772-81, 2015 Apr 28.
Artigo
Inglês
| MEDLINE | ID: mdl-25862795
16.
Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants.
Neurobiol Aging
; 35(5): 1212.e7-1212.e10, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24325798
17.
Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis.
Neurobiol Aging
; 34(11): 2695.e11-2, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23827524
18.
Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia.
Neurobiol Aging
; 34(5): 1517.e9-10, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-23063648
19.
Novel mutations in the L1CAM gene support the complexity of L1 syndrome.
J Neurol Sci
; 294(1-2): 124-6, 2010 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-20447653
20.
TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations.
J Neurol
; 262(5): 1376-8, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25893256