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Search life-sciences literature (45,104,145 articles, preprints and more)

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1-16 of 16 results

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Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.
Desguerre I, Barrois R, Audic F, Barnerias C, Chabrol B, Davion JB, Durigneux J, Espil-Taris C, Gomez-Garcia de la Banda M, Guichard M, Isapof A, Nougues MC, Laugel V, Le Goff L, Mercier S, Pervillé A, Richelme C, Thibaud M, Sarret C, [...] Cances C
Orphanet J Rare Dis, 19(1):344, 13 Sep 2024
Cited by: 0 articles | PMID: 39272200 | PMCID: PMC11401247
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Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy.
Costa-Roger M, Blasco-Pérez L, Gerin L, Codina-Solà M, Leno-Colorado J, Gómez-García De la Banda M, Garcia-Uzquiano R, Saugier-Veber P, Drunat S, Quijano-Roy S, Tizzano EF
Neurol Genet, 10(4):e200175, 16 Jul 2024
Cited by: 0 articles | PMID: 39035824 | PMCID: PMC11259531
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Role of circulating biomarkers in spinal muscular atrophy: insights from a new treatment era.
Giorgia Q, Gomez Garcia de la Banda M, Smeriglio P
Front Neurol, 14:1226969, 13 Nov 2023
Cited by: 4 articles | PMID: 38020652 | PMCID: PMC10679720
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The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy.
Baranello G, Neurodevelopment in SMA Working Group
Eur J Paediatr Neurol, 48:67-68, 23 Nov 2023
Cited by: 2 articles | PMID: 38043384
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Criterion validity of the spatial exploration test of upper limb mobility to evaluate the active horizontal workspace of children with spinal muscular atrophy.
Pruvost S, Gomez Garcia de la Banda M, Quijano Roy S, Izedaren F, Roche N, Pouplin S
Disabil Rehabil, 46(3):575-580, 17 Jan 2023
Cited by: 0 articles | PMID: 36650958
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Characterization of cardiac involvement in children with LMNA-related muscular dystrophy.
Cesar S, Campuzano O, Cruzalegui J, Fiol V, Moll I, Martínez-Barrios E, Zschaeck I, Natera-de Benito D, Ortez C, Carrera L, Expósito J, Berrueco R, Bautista-Rodriguez C, Dabaj I, Gómez García-de-la-Banda M, Quijano-Roy S, Brugada J, Nascimento A, Sarquella-Brugada G
Front Cell Dev Biol, 11:1142937, 10 Mar 2023
Cited by: 2 articles | PMID: 36968203 | PMCID: PMC10036759
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Correction to: Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.
Le Goff L, Seferian A, Phelep A, Rippert P, Mathieu ML, Cances C, de Lattre C, Durigneux J, Gousse G, Vincent-Genod D, Ribault S, Gómez García de la Banda M, Quijano-Roy S, Sarret C, Servais L, Vuillerot C
Neurol Sci, 44(3):1139, 01 Mar 2023
Cited by: 0 articles | PMID: 36418612
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Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.
Le Goff L, Seferian A, Phelep A, Rippert P, Mathieu ML, Cances C, de Lattre C, Durigneux J, Gousse G, Vincent-Genod D, Ribault S, Gomez Garcia de la Banda M, Quijano-Roy S, Sarret C, Servais L, Vuillerot C
Neurol Sci, 44(1):329-337, 29 Sep 2022
Cited by: 0 articles | PMID: 36175810
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Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings.
Gómez-García de la Banda M, Simental-Aldaba E, Fahmy N, Sternberg D, Blondy P, Quijano-Roy S, Malfatti E
Front Neurol, 13:909715, 02 Jun 2022
Cited by: 0 articles | PMID: 35720108 | PMCID: PMC9201482
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Respiratory management of spinal muscular atrophy type 1 patients treated with Nusinersen.
Menard J, Seferian AM, Fleurence E, Barzic A, Binoche A, Labouret G, Coutier L, Vuillerot C, Bieleu BM, Gomez Garcia de la Banda M, Corvol H, Servais L, Taytard J
Pediatr Pulmonol, 57(6):1505-1512, 28 Mar 2022
Cited by: 3 articles | PMID: 35307979
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Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.
Quijano-Roy S, Haberlova J, Castiglioni C, Vissing J, Munell F, Rivier F, Stojkovic T, Malfatti E, Gómez García de la Banda M, Tasca G, Costa Comellas L, Benezit A, Amthor H, Dabaj I, Gontijo Camelo C, Laforêt P, Rendu J, Romero NB, Cavassa E, [...] Carlier RY
J Neurol, 269(5):2414-2429, 24 Sep 2021
Cited by: 2 articles | PMID: 34559299
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Minimally Invasive Fusionless Surgery for Scoliosis in Spinal Muscular Atrophy: Long-term Follow-up Results in a Series of 59 Patients.
Gaume M, Saudeau E, Gomez-Garcia de la Banda M, Azzi-Salameh V, Mbieleu B, Verollet D, Benezit A, Bergounioux J, Essid A, Doehring I, Dabaj I, Desguerre I, Barnerias C, Topouchian V, Glorion C, Quijano-Roy S, Miladi L
J Pediatr Orthop, 41(9):549-558, 01 Oct 2021
Cited by: 6 articles | PMID: 34411042
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Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen.
Gómez-García de la Banda M, Amaddeo A, Khirani S, Pruvost S, Barnerias C, Dabaj I, Bénézit A, Durigneux J, Carlier RY, Desguerre I, Quijano-Roy S, Fauroux B
Pediatr Pulmonol, 56(1):299-306, 05 Nov 2020
Cited by: 15 articles | PMID: 33118682
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COVID-19 in children with neuromuscular disorders.
Natera-de Benito D, Aguilera-Albesa S, Costa-Comellas L, García-Romero M, Miranda-Herrero MC, Rúbies Olives J, García-Campos Ó, Martínez Del Val E, Martinez Garcia MJ, Medina Martínez I, Cancho-Candela R, Fernandez-Garcia MA, Pascual-Pascual SI, Gómez-Andrés D, Nascimento A, Neuromuscular Working Group of Spanish Pediatric Neurology Society
J Neurol, 268(9):3081-3085, 02 Jan 2021
Cited by: 14 articles | PMID: 33387010 | PMCID: PMC7775833
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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, Gomez-Garcia de la Banda M, Barois A, Bouchet-Séraphin C, Romero NB, Rio M, Quijano-Roy S, Ferreiro A
J Neuromuscul Dis, 7(1):69-76, 01 Jan 2020
Cited by: 0 articles | PMID: 31796684
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Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.
Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, [...] ENDEAR Study Group
N Engl J Med, 377(18):1723-1732, 01 Nov 2017
Cited by: 932 articles | PMID: 29091570
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1-16 of 16 results

Search life-sciences literature (45,104,145 articles, preprints and more)

Search results

Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.

Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy.

Role of circulating biomarkers in spinal muscular atrophy: insights from a new treatment era.

The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy.

Criterion validity of the spatial exploration test of upper limb mobility to evaluate the active horizontal workspace of children with spinal muscular atrophy.

Characterization of cardiac involvement in children with LMNA-related muscular dystrophy.

Correction to: Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.

Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.

Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings.

Respiratory management of spinal muscular atrophy type 1 patients treated with Nusinersen.

Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.

Minimally Invasive Fusionless Surgery for Scoliosis in Spinal Muscular Atrophy: Long-term Follow-up Results in a Series of 59 Patients.

Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen.

COVID-19 in children with neuromuscular disorders.

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.

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.

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