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enfant
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Employé 1) comme classe d'âge, de 2 à 12 ans. 2) comme terme de parenté (09/10/2007)
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Is prophylactic formal fusion with implant revision necessary in non-ambulatory children with spinal muscular atrophy and growing rods who are no longer lengthened?
Hanna R, Sharafinski M, Patterson K, et al.
Spine deformity, 2020, 8, 3, p 547
Hypoglycemia in patients with congenital muscle disease
Hayes LH, Yun P, Mohassel P, et al.
BMC Pediatrics, 2020, 20, 1, p 57
Clinical features of collagen VI-related dystrophies: A large Brazilian cohort
Zanoteli E, Soares PS, Silva AMSD, et al.
Clinical neurology and neurosurgery, 2020, 192
Growth assessment and weight management in paediatric neuromuscular clinics: a cross-sectional survey across Canada
McPherson AC, Amin R, McAdam L, et al.
Disability and rehabilitation, 2020
The clinical spectrum of BICD2 mutations
Frasquet M, Camacho A, Vilchez R, et al.
European journal of neurology, 2020
Effect of mechanical insufflation-exsufflation in children with neuromuscular weakness
Veldhoen ES, Verweij-van den Oudenrijn LP, Ros LA, et al.
Pediatric pulmonology, 2020, 55, 2, p 510
Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians
Pellerin D, Aykanat A, Ellezam B, et al.
Annals of neurology, 2020
Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy
Fernandes SA, Almeida CF, Souza LS, et al.
Disease models & mechanisms, 2020, 13, 2
The International Classification of Functioning, Disability and Health-Children and Youth as a framework for the management of spinal muscular atrophy in the era of gene therapy: a proof-of-concept study
Trabacca A, Lucarelli E, Pacifico R, et al.
European journal of physical and rehabilitation medicine, 2020
Mutations of MACF1, Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy
Kang L, Liu Y, Jin Y, et al.
Frontiers in neurology, 2020, 10
Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants
Forrester N, Rattihalli R, Horvath R, et al.
Journal of Neuromuscular Diseases, 2020, 7, 2, p 137
Author response: A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management
Lagrue E, Bassez G
Neurology, 2020, 94, 3, p 146
Editors' note: A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management
Siegler JE 3rd, Galetta S
Neurology, 2020, 94, 3, p 145
Reader response: A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management
Brignol TN, Bremond-Gignac D
Neurology, 2020, 94, 3, p 145
Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series
Elmallah MK, Desai AK, Nading EB, et al.
Pediatric pulmonology, 2020
Juvenile Dermatomyositis and Development of Malignancy: 2 Case Reports and a Literature Review
Cannon L, Dvergsten J, Stingl C
The Journal of rheumatology, 2020
Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report
Jiang J, Huang J, Gu J, et al.
BMC Medical Genetics, 2019, 20, 1, p 204
Intrathecal nusinersen treatment after ventriculo-peritoneal shunt placement: A case report focusing on the neurofilament light chain in cerebrospinal fluid
Tozawa T, Kasai T, Tatebe H, et al.
Brain & development, 2019
Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23
Al-Futaisi A, Ahmad F, Al-Kasbi G, et al.
Clinical genetics, 2019
Comparing children's driving abilities in physical and virtual environments
Gefen N, Rigbi A, Archambault PS, et al.
Disability and rehabilitation. Assistive technology, 2019
Quand tous les chemins mènent à l’Afrique … : When all roads lead to Africa ...
Urtizberea JA, Alrohaif H, Gouda SA, et al.
Les Cahiers de Myologie, 2019, 35, HS2, p 15
Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy
Villar-Quiles RN, De la Banda MGG, Barois A, et al.
Journal of Neuromuscular Diseases, 2019
Clinical features of Pompe disease with motor neuronopathy
Tsai LK, Hwu WL, Lee NC, et al.
Neuromuscular disorders : NMD, 2019, 29, 11, p 903
Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases
Moreno CAM, Estephan EP, Fappi A, et al.
Neuromuscular disorders : NMD, 2019
Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients
Chan SH, Ho RS, Khong PL, et al.
Neuromuscular disorders : NMD, 2019
