Detalhe da pesquisa
1.
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
J Med Genet
; 58(9): 602-608, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32994279
2.
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
J Med Genet
; 57(5): 301-307, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287593
3.
Functional classification of ATM variants in ataxia-telangiectasia patients.
Hum Mutat
; 40(10): 1713-1730, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31050087
4.
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med
; 21(8): 1897-1898, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30279470
5.
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med
; 21(4): 837-849, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30206421
6.
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.
J Inherit Metab Dis
; 41(1): 129-139, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28924877
7.
Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.
Muscle Nerve
; 54(2): 192-202, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26670690
8.
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
Brain
; 137(Pt 9): 2429-43, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24951643
9.
Tremor-like subcortical myoclonus in STXBP1 encephalopathy.
Eur J Paediatr Neurol
; 34: 62-66, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34392114
10.
Type I hyperprolinemia: genotype/phenotype correlations.
Hum Mutat
; 31(8): 961-5, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20524212
11.
Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time.
Neurology
; 94(13): e1378-e1385, 2020 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-32123049
12.
[Jeune'disease (asphyxiating thoracic dystrophy) and respiratory failure: importance of early respiratory management with periodic hyperinsufflation]. / Maladie de Jeune (dystrophie thoracique asphyxiante) et insuffisance respiratoire: intérêt de la ventilation précoce par hyperinsufflations périodiques.
Bull Acad Natl Med
; 191(7): 1411-29; discussion 1429-32, 2007 Oct.
Artigo
em Francês
| MEDLINE | ID: mdl-18447062
13.
Respiratory capacity course in patients with infantile spinal muscular atrophy.
Chest
; 126(3): 831-7, 2004 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-15364763
14.
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
Orphanet J Rare Dis
; 7: 18, 2012 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-22452838
15.
[Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene]. / Caractérisation physiopathologique des syndromes myasthéniques congénitaux: l'exemple de mutations dans le gène MUSK.
J Soc Biol
; 199(1): 61-77, 2005.
Artigo
em Francês
| MEDLINE | ID: mdl-16114265
16.
MUSK, a new target for mutations causing congenital myasthenic syndrome.
Hum Mol Genet
; 13(24): 3229-40, 2004 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15496425