Detalhe da pesquisa
1.
Titin copy number variations associated with dominant inherited phenotypes.
J Med Genet
; 61(4): 369-377, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935568
2.
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
Brain
; 144(8): 2427-2442, 2021 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33792664
3.
Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy.
Int J Mol Sci
; 23(18)2022 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36142184
4.
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.
Hum Mol Genet
; 27(11): 1892-1904, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29547997
5.
MRI in sarcoglycanopathies: a large international cohort study.
J Neurol Neurosurg Psychiatry
; 89(1): 72-77, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28889091
6.
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.
Muscle Nerve
; 58(2): 224-234, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29624713
7.
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.
J Med Genet
; 51(12): 824-33, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25326555
8.
Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy.
Muscle Nerve
; 50(6): 1011-6, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25088345
9.
Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene.
Neuromuscul Disord
; 37: 1-5, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38430701
10.
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.
Hum Mutat
; 34(3): 525-37, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23280630
11.
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
J Inherit Metab Dis
; 36(1): 43-53, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22569581
12.
Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature.
J Pers Med
; 13(5)2023 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37240968
13.
Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients.
Front Cardiovasc Med
; 10: 1210378, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37576110
14.
Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients.
J Cardiovasc Dev Dis
; 9(10)2022 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36286284
15.
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.
J Neurol
; 269(5): 2414-2429, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34559299
16.
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Acta Neuropathol Commun
; 10(1): 54, 2022 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35428369
17.
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.
Neurogenetics
; 12(1): 9-17, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21203893
18.
Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene.
Biochem Biophys Res Commun
; 412(4): 518-21, 2011 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-21741368
19.
Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies.
Orphanet J Rare Dis
; 16(1): 425, 2021 10 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34641930
20.
Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores.
Neuromuscul Disord
; 31(2): 139-148, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33384202