Detalhe da pesquisa
1.
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.
Hum Mutat
; 43(10): 1347-1353, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35731190
2.
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.
Hum Genet
; 140(4): 579-592, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33048237
3.
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Brain
; 143(2): 480-490, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32040566
4.
Single fiber EMG as a prognostic tool in myasthenia gravis.
Muscle Nerve
; 54(6): 1034-1040, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27144873
5.
Reference values for jitter recorded by concentric needle electrodes in healthy controls: A multicenter study.
Muscle Nerve
; 53(3): 351-62, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26112058
6.
Fatal recurrent dermatoneuro syndrome associated with systemic AL amyloidosis.
Clin Neuropathol
; 35(2): 72-7, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26754417
7.
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
Am J Hum Genet
; 88(1): 99-105, 2011 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21194679
8.
Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy.
Genes (Basel)
; 14(12)2023 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38136988
9.
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.
J Neuromuscul Dis
; 10(2): 173-184, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36373291
10.
Cone-beam computed tomography guided nusinersen administrations in adult spinal muscular atrophy patients with challenging access: a single- center experience.
Radiol Oncol
; 56(3): 319-325, 2022 08 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35962954
11.
Shaky hands are a part of motor neuron disease phenotype: clinical and electrophysiological study of 77 patients.
J Neurol
; 269(8): 4498-4509, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35412152
12.
Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2.
Neurol Genet
; 8(2): e658, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35243002
13.
Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.
PLoS One
; 16(6): e0252953, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34106991
14.
Improvements in the multidisciplinary care are beneficial for survival in amyotrophic lateral sclerosis (ALS): experience from a tertiary ALS center.
Amyotroph Lateral Scler Frontotemporal Degener
; 21(3-4): 203-208, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32248716
15.
Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies.
J Clin Pathol
; 72(7): 468-472, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30878973
16.
IMG-01 The spectrum of involuntary movements in patients with motor neuron disease: a cross-sectional study.
Amyotroph Lateral Scler Frontotemporal Degener
; 20(sup1): 246-261, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31702470
17.
Differential expression of microRNAs and other small RNAs in muscle tissue of patients with ALS and healthy age-matched controls.
Sci Rep
; 8(1): 5609, 2018 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29618798
18.
Differential Expression of Several miRNAs and the Host Genes AATK and DNM2 in Leukocytes of Sporadic ALS Patients.
Front Mol Neurosci
; 11: 106, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29670510
19.
Template-operated MUP analysis is not accurate in the diagnosis of myopathic or neuropathic changes in the diaphragm.
Neurophysiol Clin
; 47(5-6): 405-412, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28844760
20.
Life-threatening myositis after one dose of nivolumab in a patient with nonmetastatic completely resected cutaneous melanoma.
Acta Neurol Belg
; 122(6): 1637-1639, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34331257