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sexe féminin

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femme femelle

Documents disponibles dans cette catégorie (1410)

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Article

Transplantation proceedings, 57, 3. Recurrence of Myopathy After Liver Transplantation for Patients With End-Stage GSD Type IIIa

Wang H ; Qu W ; Liu Y ; Zhang L ; He EH ; Zhu ZJ ; Sun LY | 04/2025

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Neurogenetics, 26, 1. Repeated clear benefits of immunotherapy in a patient with Charcot-Marie-Tooth disease carrying a rare point mutation in PMP22

Kawai H ; Nishida Y ; Kanda T ; Yokota T | 24/03/2025

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Journal of neurology, 272, 3. Deep characterization of females with heterozygous Duchenne muscular dystrophy mutations

Riguzzi P ; Sabbatini D ; Fusto A ; Vianello S ; Merlo B ; Zangaro V ; Capece G ; Gorgoglione D ; Soraru G ; Bariani R ; Calore C ; Bauce B ; Martini M ; Mutterle A ; Bello L ; Pegoraro E | 04/03/2025

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$Refractory Severe Anti-SRP Myopathy that Improved with Long-term Rehabilitation Therapy: A Case Report$

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Progress in rehabilitation medicine, 10. Refractory Severe Anti-SRP Myopathy that Improved with Long-term Rehabilitation Therapy: A Case Report

Nakao Y ; Ibe Y ; Tazawa M ; Arii H ; Toyama R ; Shirayoshi T ; Wada N | 22/01/2025

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Journal of neurology, 272, 2. Cognitive changes and brain structural abnormalities in female carriers of DMD pathogenic variants

de Brito MR ; Rezende TJR ; da Silva Passos S ; Iwabe C ; Martinez ARM ; Nucci A ; França MC | 15/01/2025

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BMC neurology, 25, 1. Successful pregnancy of an SMA type 3 sitter on Nusinersen therapy - a case report

Hiebeler M ; Thiele S ; Walter MC | 04/01/2025

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Frontiers in immunology, 16. Case report: Successful perioperative intervention with efgartigimod in a patient in myasthenic crisis

Shelly S | 2025

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Journal of clinical medicine, 13, 23. The First Patient in Poland Treated for SMA with Nusinersen During Pregnancy

Stawicka E ; Skarżyńska U ; Lipiec A ; Mazanowska N ; Stankiewicz J ; Gos M ; Wyszczelska-Namięta M | 03/12/2024

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Article

Global medical genetics, 11, 4. Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy

Baskar D ; Vengalil S ; Polavarapu K ; Preethish-Kumar V ; Arunachal G ; Sukrutha R ; Bardhan M ; Huddar A ; Unnikrishnan G ; Kulkarni GB ; Chickabasaviah YT ; Kumar RS ; Nalini A ; Nashi S | 12/2024

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Molecular genetics and metabolism reports, 41. MADD-like pattern of acylcarnitines associated with sertraline use

Ingoglia F ; Tanfous M ; Ellezam B ; Anderson KJ ; Pasquali M ; Botto LD | 12/2024

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Article

Heliyon, 10, 21. Pseudohypoaldosteronism type II and sensory neuropathy associated with a heterozygous pathogenic variant in KLHL3 gene, a case report

Davion JB ; Coku I ; Wissocq A ; Genet A ; Poupart J ; Defebvre L ; Huin V | 15/11/2024

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Journal of human genetics, Epub. Expanding the spectrum of HSPB8-related myopathy: a novel mutation causing atypical pediatric-onset axial and limb-girdle involvement with autophagy abnormalities and molecular dynamics studies

Yang G ; Lv X ; Yang M ; Feng Y ; Wang G ; Yan C ; Lin P | 15/11/2024

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Pediatric rheumatology online journal, 22, 1. Pediatric case of immune-mediated necrotizing myopathy with anti-HMGCR antibodies and dermatomyositis skin rash

Cavillon T ; Sacaze E ; Noury JB ; Abasq C ; Cornen G ; Ropars J ; Devauchelle-Pensec V | 07/11/2024

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Article

Acta dermatovenerologica Croatica : ADC, 32, 2. Safety and Efficacy of Long-term Use of Infliximab in Severe Juvenile Dermatomyositis - 12 Years of Follow-up

Kifer N ; Frković M ; Peric S ; Šestan M ; Vukojević N ; Jelušić M | 11/2024

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Journal of Neuromuscular Diseases, 11, 6. Distinct whole-body muscle MRI imaging patterns in PAX7-congenital myopathy: A case report

Haliloglu G ; Donkervoort S ; Yıldız SÖ ; Potticary A ; Hu Y ; Pais L ; Carlier RY ; Amthor H ; Aydıngöz Ü ; Bonnemann CG | 11/2024

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Article

American journal of medical genetics. Part A Successful Pregnancy Outcome With Preconception Care in a Symptomatic Carrier of Duchenne Muscular Dystrophy: Case Report and Literature Review

Kinugawa M ; Ichinose M ; Matsui H ; Xiang Z ; Sayama S ; Toshimitsu M ; Seyama T ; Masuda H ; Matsui H ; Kumasawa K ; Iriyama T ; Hirota Y ; Osuga Y | 31/10/2024

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Neuromuscular disorders : NMD, 43. A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands

Van Kleef ESB ; van de Camp SAJH ; Groothuis JT ; Erasmus CE ; Gaytant MA ; Vosse BAH ; de Weerd W ; Verschuuren-Bemelmans CC ; Medici-van den Herik EG ; Wallgren-Pettersson C ; Kusters B ; Schouten M ; van Engelen BGM ; Ottenheijm CAC ; Doorduin J ; Voermans NC | 10/2024

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Article

Sleep and biological rhythms, 22, 4. Complete resolution of restless legs syndrome following ischemic stroke of the right middle cerebral artery

Moreau A ; Namer IJ ; Tatu L ; Wolff V ; Bourgin P ; Ruppert E | 10/2024

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Article

HGG advances, Epub. Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation

Silverstein S ; Orbach R ; Syeda S ; Foley AR ; Gorokhova S ; Meilleur KG ; Leach ME ; Uapinyoying P ; Chao KR ; Donkervoort S ; Bonnemann CG | 23/09/2024

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Article

Acta clinica Belgica The first reported familial case of statin-induced immune-mediated necrotizing myopathy associated with anti-hydroxy-3-methylglutaryl-CoA reductase autoantibodies and HLA DRB111:01

Bronchain M ; Pothen L ; Taihi L ; Cordenier A ; Van Parys V | 16/09/2024

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Article

Muscle & Nerve, Epub. Skeletal muscle symptoms and quantitative MRI in females with dystrophinopathy

Jenkins BM ; Dixon LD ; Kokesh KJ ; Zingariello CD ; Vandenborne K ; Walter GA ; Barnard AM | 02/09/2024

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Article

Neuromuscular disorders : NMD, 42. Risk-benefit profile of onasemnogene abeparvovec in older and heavier children with spinal muscular atrophy type 1

Finnegan R ; Manzur A ; Munot P ; Dhawan A ; Murugan A ; Majumdar A ; Wraige E ; Gowda V ; Vanegas M ; Main M ; O'Reilly E ; Baranello G ; Muntoni F ; Scoto M | 09/2024

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Article

Journal of medical genetics, Epub. Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement

Johari M ; Topf A ; Folland C ; Duff J ; Dofash L ; Marti P ; Robertson T ; Vilchez J ; Cairns A ; Harris E ; Marini-Bettolo C ; Hundallah K ; Alhashem AM ; Al-Owain M ; Maroofian R ; Ravenscroft G ; Straub V | 28/08/2024

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Article

BMC neurology, 24, 1. Efgartigimod combined with steroids as a fast-acting therapy for myasthenic crisis: a case report

Ohara H ; Kikutsuji N ; Iguchi N ; Kinoshita M | 22/08/2024

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Article

Journal of neuroimmunology, 395, Epub. Efgartigimod as a fast-acting add-on therapy in manifest and impending myasthenic crisis: A single-center case series

Hong Y ; Gao L ; Huang SQ ; Liu S ; Feng S ; Chen YB ; Jiang T ; Shi JQ ; Zhao HD | 10/08/2024

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sexe féminin

Synonyme(s)

Documents disponibles dans cette catégorie (1410)

Transplantation proceedings, 57, 3. Recurrence of Myopathy After Liver Transplantation for Patients With End-Stage GSD Type IIIa

Neurogenetics, 26, 1. Repeated clear benefits of immunotherapy in a patient with Charcot-Marie-Tooth disease carrying a rare point mutation in PMP22

Journal of neurology, 272, 3. Deep characterization of females with heterozygous Duchenne muscular dystrophy mutations

Progress in rehabilitation medicine, 10. Refractory Severe Anti-SRP Myopathy that Improved with Long-term Rehabilitation Therapy: A Case Report

Journal of neurology, 272, 2. Cognitive changes and brain structural abnormalities in female carriers of DMD pathogenic variants

BMC neurology, 25, 1. Successful pregnancy of an SMA type 3 sitter on Nusinersen therapy - a case report

Frontiers in immunology, 16. Case report: Successful perioperative intervention with efgartigimod in a patient in myasthenic crisis

Journal of clinical medicine, 13, 23. The First Patient in Poland Treated for SMA with Nusinersen During Pregnancy

Global medical genetics, 11, 4. Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy

Molecular genetics and metabolism reports, 41. MADD-like pattern of acylcarnitines associated with sertraline use

Heliyon, 10, 21. Pseudohypoaldosteronism type II and sensory neuropathy associated with a heterozygous pathogenic variant in KLHL3 gene, a case report

Journal of human genetics, Epub. Expanding the spectrum of HSPB8-related myopathy: a novel mutation causing atypical pediatric-onset axial and limb-girdle involvement with autophagy abnormalities and molecular dynamics studies

Pediatric rheumatology online journal, 22, 1. Pediatric case of immune-mediated necrotizing myopathy with anti-HMGCR antibodies and dermatomyositis skin rash

Acta dermatovenerologica Croatica : ADC, 32, 2. Safety and Efficacy of Long-term Use of Infliximab in Severe Juvenile Dermatomyositis - 12 Years of Follow-up

Journal of Neuromuscular Diseases, 11, 6. Distinct whole-body muscle MRI imaging patterns in PAX7-congenital myopathy: A case report

American journal of medical genetics. Part A Successful Pregnancy Outcome With Preconception Care in a Symptomatic Carrier of Duchenne Muscular Dystrophy: Case Report and Literature Review

Neuromuscular disorders : NMD, 43. A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands

Sleep and biological rhythms, 22, 4. Complete resolution of restless legs syndrome following ischemic stroke of the right middle cerebral artery

HGG advances, Epub. Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation

Acta clinica Belgica The first reported familial case of statin-induced immune-mediated necrotizing myopathy associated with anti-hydroxy-3-methylglutaryl-CoA reductase autoantibodies and HLA DRB111:01

Muscle & Nerve, Epub. Skeletal muscle symptoms and quantitative MRI in females with dystrophinopathy

Neuromuscular disorders : NMD, 42. Risk-benefit profile of onasemnogene abeparvovec in older and heavier children with spinal muscular atrophy type 1

Journal of medical genetics, Epub. Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement

BMC neurology, 24, 1. Efgartigimod combined with steroids as a fast-acting therapy for myasthenic crisis: a case report

Journal of neuroimmunology, 395, Epub. Efgartigimod as a fast-acting add-on therapy in manifest and impending myasthenic crisis: A single-center case series