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étude de casSynonyme(s)cas clinique ;case report ;case study ;clinical case case studies |
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Myotonic dystrophy type 1 accompanied with normal pressure hydrocephalus: a case report and literature review
Wang J, Liu M, Shang W, et al.
BMC neurology, 2020, 20, 1, p 53
Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese
Lee HH, Wong S, Sheng B, et al.
Clinical genetics, 2020
The clinical spectrum of BICD2 mutations
Frasquet M, Camacho A, Vilchez R, et al.
European journal of neurology, 2020
Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families
Ullah A, Zubaida B, Cheema HA, et al.
Journal of pediatric endocrinology & metabolism : JPEM, 2020
Spinal fusion in facioscapulohumeral dystrophy for hyperlordosis: A case report
Eren I, Abay B, Gunerbuyuk C, et al.
Medicine, 2020, 99, 8
Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians
Pellerin D, Aykanat A, Ellezam B, et al.
Annals of neurology, 2020
Severe Ocular Complications After Blepharoptosis Correction in the Oculopharyngeal Muscular Dystrophy Patient: Literature Review and Case Presentation
Lin TY, Chen AD, Chang CH, et al.
Annals of plastic surgery, 2020, 84, suppl 1
Fatal liver failure after therapeutic doses of paracetamol in a patient with Duchenne muscular dystrophy and atypical pharmacogenetic profile of drug-metabolizing enzymes
Lao YE, Molden E, Kringen MK, et al.
Basic & clinical pharmacology & toxicology, 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
Novel Desmin Mutation Causing Myofibrillar Myopathy in a Hmong Family
Nicolau S, Howe BM, Naddaf E
Frontiers in neurology, 2020, 10, p 1375
Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures
Landires I, Nunez-Samudio V, Fernandez J, et al.
Genes, 2020, 11, 2
A Case Study With Symbihand: An sEMG-Controlled Electrohydraulic Hand Orthosis for Individuals With Duchenne Muscular Dystrophy
Bos RA, Nizamis K, Koopman BFJM, et al.
IEEE Transactions on neural systems and rehabilitation engineering, 2020, 28, 1, p 258
Restoration of Global Sagittal Alignment After Surgical Correction of Cervical Hyperlordosis in a Patient with Emery-Dreifuss Muscular Dystrophy: A Case Report
Diebo BG, Shah NV, Messina JC, et al.
JBJS case connector, 2020, 10, 1
Multiple acyl-COA dehydrogenase deficiency in elderly carriers
Macchione F, Salviati L, Bordugo A, et al.
Journal of neurology, 2020
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
Bilateral scapulothoracic arthrodesis for facioscapulohumeral muscular dystrophy: function, fusion, and respiratory consequences
Boileau P, Pison A, Wilson A, et al.
Journal of shoulder and elbow surgery, 2020
7T MR neurography-ultrasound fusion for peripheral nerve imaging
Schreiber S, Schreiber F, Peter A, et al.
Muscle & Nerve, 2020
Case of spinal muscular atrophy type 0 with mild prognosis
Kitaoka H, Shitara Y, Uchida Y, et al.
Pediatrics international : official journal of the Japan Pediatric Society, 2020, 62, 1, p 106
Tragic Affirmation: Disability Beyond Optimism and Pessimism
Abrams T, Adkins B
The Journal of medical humanities, 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
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families
Preiksaitiene E, Voisin N, Gueneau L, et al.
American Journal of Medical Genetics Part A, 2019
Hypoglycaemia in patients with type 1 SMA: an underdiagnosed problem?
Berti B, Onesimo R, Leone D, et al.
Archives of disease in childhood, 2019
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
