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1.
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.
Brain
; 146(2): 668-677, 2023 02 13.
Article
in English
| MEDLINE | ID: mdl-35857854
2.
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.
Genet Med
; 20(1): 42-54, 2018 01.
Article
in English
| MEDLINE | ID: mdl-28617417
3.
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.
Hum Mol Genet
; 23(9): 2339-52, 2014 May 01.
Article
in English
| MEDLINE | ID: mdl-24334604
4.
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
Am J Hum Genet
; 90(2): 201-16, 2012 Feb 10.
Article
in English
| MEDLINE | ID: mdl-22265013
5.
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
JAMA Pediatr
; 178(6): 540-547, 2024 Jun 01.
Article
in English
| MEDLINE | ID: mdl-38587854
6.
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
J Neurol
; 271(5): 2787-2797, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38409538
7.
Early Development of Spinal Deformities in Children Severely Affected with Spinal Muscular Atrophy after Gene Therapy with Onasemnogene Abeparvovec-Preliminary Results.
Children (Basel)
; 10(6)2023 Jun 02.
Article
in English
| MEDLINE | ID: mdl-37371230
8.
Ablation of collagen XII disturbs joint extracellular matrix organization and causes patellar subluxation.
iScience
; 26(7): 107225, 2023 Jul 21.
Article
in English
| MEDLINE | ID: mdl-37485359
9.
Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany.
J Neuromuscul Dis
; 10(1): 55-65, 2023.
Article
in English
| MEDLINE | ID: mdl-36463459
10.
Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study.
J Neuromuscul Dis
; 10(1): 29-40, 2023.
Article
in English
| MEDLINE | ID: mdl-36565133
11.
Familial cleft tongue caused by a unique translation initiation codon variant in TP63.
Eur J Hum Genet
; 30(2): 211-218, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34629465
12.
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study.
Lancet Child Adolesc Health
; 6(1): 17-27, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34756190
13.
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.
Orphanet J Rare Dis
; 17(1): 384, 2022 10 23.
Article
in English
| MEDLINE | ID: mdl-36274155
14.
Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1.
J Neuromuscul Dis
; 7(1): 41-46, 2020.
Article
in English
| MEDLINE | ID: mdl-31744015
15.
The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy.
Eur J Paediatr Neurol
; 12(3): 224-30, 2008 May.
Article
in English
| MEDLINE | ID: mdl-17951086
16.
Sensitivity and specificity of qualitative muscle ultrasound in assessment of suspected neuromuscular disease in childhood.
Neuromuscul Disord
; 17(7): 517-23, 2007 Jul.
Article
in English
| MEDLINE | ID: mdl-17537637
17.
Quantitative proton MRS of cerebral metabolites in laminin alpha2 chain deficiency.
Brain Dev
; 29(6): 357-64, 2007 Jul.
Article
in English
| MEDLINE | ID: mdl-17174499
18.
Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations.
Eur J Paediatr Neurol
; 14(4): 326-33, 2010 Jul.
Article
in English
| MEDLINE | ID: mdl-19900826
19.
Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes.
Am J Med Genet A
; 132A(3): 296-301, 2005 Jan 30.
Article
in English
| MEDLINE | ID: mdl-15690374
20.
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.
Ann Neurol
; 55(5): 676-86, 2004 May.
Article
in English
| MEDLINE | ID: mdl-15122708
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