Detalhe da pesquisa
1.
Serum neurofilament light chain: a promising early diagnostic biomarker for hereditary transthyretin amyloidosis?
Eur J Neurol
; 31(1): e16070, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37724995
2.
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Brain
; 146(12): 5060-5069, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37450567
3.
Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy.
Neurol Sci
; 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38622453
4.
Reliable virtual clinical assessment in spino-bulbar muscular atrophy (SBMA).
J Neurol Neurosurg Psychiatry
; 94(2): 161, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36137740
5.
Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation.
Neurogenetics
; 22(4): 347-351, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34387792
6.
Optical coherence tomography in adult adrenoleukodystrophy: a cross-sectional and longitudinal study.
Neurol Sci
; 42(1): 235-241, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32632637
7.
Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients.
Int J Mol Sci
; 22(11)2021 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34073630
8.
Validation of the Italian version of the Charcot-Marie-Tooth Health Index.
J Peripher Nerv Syst
; 25(3): 292-296, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32511835
9.
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.
Brain
; 141(12): 3331-3342, 2018 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30476002
10.
The tip of the iceberg in ATTRv: when to start carrier monitoring and when to initiate treatment?
J Neurol Neurosurg Psychiatry
; 2023 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38071548
11.
Extensive leukoencephalopathy in coeliac disease: report of three cases and review of the literature.
Neurol Sci
; 43(5): 3443-3447, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35149924
12.
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
EBioMedicine
; 99: 104931, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38150853
13.
Individual perception of environmental factors that influence lower limbs spasticity in inherited spastic paraparesis.
Ann Phys Rehabil Med
; 66(6): 101732, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37028193
14.
Magnetic resonance neurography and diffusion tensor imaging of the sciatic nerve in hereditary transthyretin amyloidosis polyneuropathy.
J Neurol
; 270(10): 4827-4840, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37329346
15.
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.
Orphanet J Rare Dis
; 18(1): 196, 2023 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37480080
16.
Progressive brachial plexus enlargement in hereditary transthyretin amyloidosis.
J Neurol
; 269(4): 1905-1912, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34410494
17.
Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature.
Front Neurol
; 12: 793547, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35069422
18.
Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy.
Orphanet J Rare Dis
; 16(1): 163, 2021 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33827635
19.
hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers.
Brain Sci
; 10(11)2020 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33114611
20.
ATTRv amyloidosis Italian Registry: clinical and epidemiological data.
Amyloid
; 27(4): 259-265, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32696671