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12632 résultat(s)

Article

GeneReviews® [Internet] Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview : Synonyms: Distal Hereditary Motor Neuropathy (dHMN), Hereditary Motor/Sensory Neuropathy (HMSN)

Bird TD | 23/01/2025

Initial Posting: September 28, 1998; Last Revision: January 23, 2025.

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Neurology. Clinical practice, 15, 1. Spinal Muscular Atrophy Update in Best Practices: Recommendations for Treatment Considerations

Schroth MK ; Deans J ; Bharucha Goebel DX ; Burnette WB ; Darras BT ; Elsheikh BH ; Felker MV ; Klein A ; Krueger J ; Proud CM ; Veerapandiyan A ; Graham RJ | 02/2025

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Journal of neurology, 272, 2. Refining the clinical and therapeutic spectrum of granulomatous myositis from a large cohort of patients

Lauletta A ; de Le Hoye L ; Leonard-Louis S ; Garibaldi M ; Allenbach Y ; Benveniste O | 15/01/2025

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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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NLRP3 Inflammasome Activation and Altered Mitophagy Are Key Pathways in Inclusion Body Myositis

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Journal of cachexia, sarcopenia and muscle, 16, 1. NLRP3 Inflammasome Activation and Altered Mitophagy Are Key Pathways in Inclusion Body Myositis

Naddaf E ; Nguyen TKO ; Watzlawik JO ; Gao H ; Hou X ; Fiesel FC ; Mandrekar J ; Kokesh E ; Harmsen WS ; Lanza IR ; Springer W ; Trushina E | 02/2025

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Phase 1/2 trial of brogidirsen: Dual-targeting antisense oligonucleotides for exon 44 skipping in Duchenne muscular dystrophy

Article

Cell reports. Medicine, 6, 1. Phase 1/2 trial of brogidirsen: Dual-targeting antisense oligonucleotides for exon 44 skipping in Duchenne muscular dystrophy

Komaki H ; Takeshita E ; Kunitake K ; Ishizuka T ; Shimizu-Motohashi Y ; Ishiyama A ; Sasaki M ; Yonee C ; Maruyama S ; Hida E ; Aoki Y | 21/01/2025

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European journal of neurology, 32, 1. Vacuolar myopathy with monoclonal gammopathy and stiffness (VAMMGAS)

Staedler K ; Allenbach Y ; Salort-Campana E ; Malfatti E ; Rigolet A ; Attarian S ; Maues de Paula A ; Leonard-Louis S ; Benveniste O ; Stojkovic T | 01/2025

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Ankle-foot orthoses for improving walking in adults with calf muscle weakness due to neuromuscular disorders

Article

The Cochrane database of systematic reviews, 1, 1. Ankle-foot orthoses for improving walking in adults with calf muscle weakness due to neuromuscular disorders

van Duijnhoven E ; Waterval NF ; Koopman FS ; Esquenazi A ; Nollet F ; Brehm MA | 16/01/2025

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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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FAIRE FACE - MIEUX VIVRE LE HANDICAP, 795. Numéro complet - 795 / Dossier PCH : Aide humaine : à quoi avez-vous droit ?

Collectif, Auteur | Paris [France] : APF France handicap | 01/2025

SOMMAIRE : p 3 - Édito : Ma vie comme je la voudrais p 4 - En bref Droits p 6 - Focus : Une pension à vie quand les parents sont partis p 8 - Question du lecteur - Cumul AAH/Rente survie : Les calculs contestables de la CAF Santé [...]

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Muscle & Nerve, Epub. Prophylactic Use of Cardiac Medications and Survival in Duchenne Muscular Dystrophy

Conway KM ; Thomas S ; Neyaz T ; Ciafaloni E ; Mann JR ; Staron-Ehlinger M ; Beasley GS ; Romitti PA ; Mathews KD | 24/01/2025

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Label-free proteomic analysis of Duchenne and Becker muscular dystrophy showed decreased sarcomere proteins and increased ubiquitination-related proteins

Article

Scientific Reports, 15, 1. Label-free proteomic analysis of Duchenne and Becker muscular dystrophy showed decreased sarcomere proteins and increased ubiquitination-related proteins

da Silva JCT ; Nogueira MRA ; da Silva YM ; Nogueira FCS ; Canedo NHS ; Carneiro K ; de Abreu Pereira D | 26/01/2025

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Navigating adulthood: Exploring the transition needs of adolescents and young adults affected by Duchenne or Becker muscular dystrophy

Article

PLoS ONE, 20, 1. Navigating adulthood: Exploring the transition needs of adolescents and young adults affected by Duchenne or Becker muscular dystrophy

Barak S ; Ackerman Laufer S ; Gudinsky Elyashiv M ; Rubinstein-Shatz S ; Davidson R ; Kaplan T | 2025

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PLOS digital health, 4, 1. Use of assistive technology to assess distal motor function in subjects with neuromuscular disease

Vincent-Genod D ; Roche S ; Barrière A ; de Lattre C ; Tinat M ; Venema E ; Lagrange E ; Gomes Lisboa de Souza A ; Thomann G ; Coton J ; Gautheron V ; Féasson L ; Rippert P ; Vuillerot C | 01/2025

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High prevalence of facioscapulohumeral muscular dystrophy (FSHD) and inflammatory myopathies association: Is there an interplay?

Article

Journal of the neurological sciences, 470, Epub. High prevalence of facioscapulohumeral muscular dystrophy (FSHD) and inflammatory myopathies association: Is there an interplay?

Lauletta A ; Allenbach Y ; Behin A ; Evangelista T ; Leonard-Louis S ; Garibaldi M ; Benveniste O | 21/01/2025

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PLoS ONE, 20, 1. In vivo mapping of sodium homeostasis disturbances in individual ALS patients: A brain 23Na MRI study

Grapperon AM ; El Mendili MM ; Maarouf A ; Ranjeva JP ; Guye M ; Verschueren A ; Attarian S ; Zaaraoui W | 2025

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Brève

La mutation p.D207V est corrélée à une forme moins sévère de myopathie à GNE

Rivière H, Auteur | 13/01/2025

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Document numérique

Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study

Article

BMJ Open, 15, 1. Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study

Abbott L ; Main M ; Wolfe A ; Rohwer A ; Baranello G ; Munot P ; Manzur A ; Muntoni F ; Scoto M | 21/01/2025

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Progress and prospects in antisense oligonucleotide-mediated exon skipping therapies for Duchenne muscular dystrophy

Article

Journal of muscle research and cell motility, Epub. Progress and prospects in antisense oligonucleotide-mediated exon skipping therapies for Duchenne muscular dystrophy

Chwalenia K ; Wood MJA ; Roberts TC | 30/01/2025

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Expert opinion on pharmacotherapy, 26, 3. Palovarotene in fibrodysplasia ossificans progressiva: review and perspective

Verheij VA ; Diecidue RJ ; Botman E ; Harrington JD ; Haga N ; Hidalgo-Bravo A ; Delai PLR ; Madhuri V ; Al Mukaddam M ; Zhang K ; Cho TJ ; Morhart R ; Keen R ; De Cunto CL ; Friedman CS ; Grunwald Z ; Zasloff M ; Netelenbos JC ; Hsiao E ; Kaplan FS ; Pignolo RJ ; Scott C ; Eekhoff EMW | 21/01/2025

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From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants

Article

European journal of neurology, 32, 1. From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants

Degoutin M ; Angelini C ; Bar C ; El Khedoud WA ; Barnerias C ; Boulariah-Hadjou R ; Estiar MA ; Ewenczyk C ; Gan-Or Z ; Lacombe D ; Lefeuvre C ; Majethia P ; Messaoud-Khelifi M ; Narayanan DL ; Rouleau GA ; Suchowersky O ; Shukla A ; Guillaud-Bataille M ; Stevanin G ; Goizet C | 01/2025

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Pharmacological and non-pharmacological therapies for prevention and treatment of osteoporosis in Duchenne Muscular Dystrophy: A systematic review

Article

Bone, 193, Epub. Pharmacological and non-pharmacological therapies for prevention and treatment of osteoporosis in Duchenne Muscular Dystrophy: A systematic review

McCarrison S ; Abdelrahman S ; Quinlivan R ; Keen R ; Wong SC | 24/01/2025

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Comprehensive review of adverse reactions and toxicology in ASO-based therapies for Duchenne Muscular Dystrophy: From FDA-approved drugs to peptide-conjugated ASO

Article

Current research in toxicology, 7. Comprehensive review of adverse reactions and toxicology in ASO-based therapies for Duchenne Muscular Dystrophy: From FDA-approved drugs to peptide-conjugated ASO

Sabrina Haque U ; Kohut M ; Yokota T | 2024

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Clinical and experimental rheumatology, 42, 2. 5th Global Conference on Myositis (GCOM) : Actes de colloque - March 13-16, 2024 - Pittsburgh (PA), USA

Werth V ; Wilfong EM ; Mammen AL ; Oddis CV ; Saygin D ; Liarski VM ; Moghadam-Kia S ; Aggarwal R ; Ascherman DP | 02/2024

Oral Presentations - Pathogenesis of Inflammatory Myopathies: Transcriptomic Analyses - Genetic/Environmental - Inclusion Body Myositis - Advances in Therapeutic Development - Juvenile Myositis: Promising Avenues for New Therapies - Clinic[...]

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Medecine sciences : M/S, 40, HS 1. Parasport et maladies neuromusculaires : [Parasport and neuromuscular diseases]

Lopez O | 11/2024

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12632 résultat(s)

GeneReviews® [Internet] Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview : Synonyms: Distal Hereditary Motor Neuropathy (dHMN), Hereditary Motor/Sensory Neuropathy (HMSN)

Neurology. Clinical practice, 15, 1. Spinal Muscular Atrophy Update in Best Practices: Recommendations for Treatment Considerations

Journal of neurology, 272, 2. Refining the clinical and therapeutic spectrum of granulomatous myositis from a large cohort of patients

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

Journal of cachexia, sarcopenia and muscle, 16, 1. NLRP3 Inflammasome Activation and Altered Mitophagy Are Key Pathways in Inclusion Body Myositis

Cell reports. Medicine, 6, 1. Phase 1/2 trial of brogidirsen: Dual-targeting antisense oligonucleotides for exon 44 skipping in Duchenne muscular dystrophy

European journal of neurology, 32, 1. Vacuolar myopathy with monoclonal gammopathy and stiffness (VAMMGAS)

The Cochrane database of systematic reviews, 1, 1. Ankle-foot orthoses for improving walking in adults with calf muscle weakness due to neuromuscular disorders

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

FAIRE FACE - MIEUX VIVRE LE HANDICAP, 795. Numéro complet - 795 / Dossier PCH : Aide humaine : à quoi avez-vous droit ?

Muscle & Nerve, Epub. Prophylactic Use of Cardiac Medications and Survival in Duchenne Muscular Dystrophy

Scientific Reports, 15, 1. Label-free proteomic analysis of Duchenne and Becker muscular dystrophy showed decreased sarcomere proteins and increased ubiquitination-related proteins

PLoS ONE, 20, 1. Navigating adulthood: Exploring the transition needs of adolescents and young adults affected by Duchenne or Becker muscular dystrophy

PLOS digital health, 4, 1. Use of assistive technology to assess distal motor function in subjects with neuromuscular disease

Journal of the neurological sciences, 470, Epub. High prevalence of facioscapulohumeral muscular dystrophy (FSHD) and inflammatory myopathies association: Is there an interplay?

PLoS ONE, 20, 1. In vivo mapping of sodium homeostasis disturbances in individual ALS patients: A brain 23Na MRI study

La mutation p.D207V est corrélée à une forme moins sévère de myopathie à GNE

BMJ Open, 15, 1. Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study

Journal of muscle research and cell motility, Epub. Progress and prospects in antisense oligonucleotide-mediated exon skipping therapies for Duchenne muscular dystrophy

Expert opinion on pharmacotherapy, 26, 3. Palovarotene in fibrodysplasia ossificans progressiva: review and perspective

European journal of neurology, 32, 1. From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants

Bone, 193, Epub. Pharmacological and non-pharmacological therapies for prevention and treatment of osteoporosis in Duchenne Muscular Dystrophy: A systematic review

Current research in toxicology, 7. Comprehensive review of adverse reactions and toxicology in ASO-based therapies for Duchenne Muscular Dystrophy: From FDA-approved drugs to peptide-conjugated ASO

Clinical and experimental rheumatology, 42, 2. 5th Global Conference on Myositis (GCOM) : Actes de colloque - March 13-16, 2024 - Pittsburgh (PA), USA

Medecine sciences : M/S, 40, HS 1. Parasport et maladies neuromusculaires : [Parasport and neuromuscular diseases]