Detalhe da pesquisa
1.
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders.
Neurogenetics
; 2024 May 17.
Artigo
Inglês
| MEDLINE | ID: mdl-38758368
2.
SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism.
Int J Mol Sci
; 25(9)2024 May 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38732227
3.
C9orf72 hexanucleotide repeat expansion found in suspected spinobulbar muscular atrophy (SBMA).
Neurol Neurochir Pol
; 56(3): 276-280, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35661131
4.
Value of short exercise and short exercise with cooling tests in diagnosis of recessive form of myotonia congenita (Becker disease) - are sex differences important?
Neurol Neurochir Pol
; 56(5): 399-403, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35792560
5.
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.
Neurogenetics
; 20(1): 27-38, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30778698
6.
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.
Hum Mutat
; 37(7): 703-9, 2016 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27071356
7.
Multiplex ligation-dependent probe amplification for identification of correctly targeted murine embryonic stem cell clones.
Anal Biochem
; 474: 35-7, 2015 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-25615417
8.
Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas.
J Pathol
; 234(4): 436-40, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25143307
9.
Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.
J Appl Genet
; 63(3): 513-525, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-35588347
10.
The needle EMG findings in myotonia congenita.
J Electromyogr Kinesiol
; 49: 102362, 2019 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-31610484
11.
Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.
J Neurol Sci
; 359(1-2): 35-9, 2015 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-26671083