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Academic Journal

A cross-sectional and longitudinal evaluation of serum creatinine as a biomarker in spinal muscular atrophy.

  • Authors : Zhao X; Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, Hubei province, China.; Gong Z

Subjects: Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/blood ; Biomarkers*/Biomarkers*/Biomarkers*/blood ; Creatinine*/Creatinine*/Creatinine*/blood

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Dec 25; Vol. 19 (1), pp. 489. Date of Electronic Publication: 2024 Dec 25.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience.

  • Authors : Chen C; Department of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.; Zhang C

Subjects: Neonatal Screening*/Neonatal Screening*/Neonatal Screening*/methods ; Agammaglobulinemia*/Agammaglobulinemia*/Agammaglobulinemia*/diagnosis ; Agammaglobulinemia*/Agammaglobulinemia*/Agammaglobulinemia*/genetics Bruton type agammaglobulinemia

  • Source: World journal of pediatrics : WJP [World J Pediatr] 2024 Dec; Vol. 20 (12), pp. 1270-1282. Date of Electronic Publication: 2024 Nov 05.Publisher: Springer International Publ Country of Publication: Switzerland NLM ID: 101278599 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Performance fatigability in adults with spinal muscular atrophy treated long-term with nusinersen.

  • Authors : Stolte B; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Essen, Germany.; Neuhoff S

Subjects: Oligonucleotides*/Oligonucleotides*/Oligonucleotides*/therapeutic use ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/drug therapy ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/physiopathology

  • Source: Muscle & nerve [Muscle Nerve] 2024 Dec; Vol. 70 (6), pp. 1223-1229. Date of Electronic Publication: 2024 Oct 03.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Spinal muscular atrophy caused by compound heterozygous SMN1 mutations: two cases and literature review.

  • Authors : Chi Y; Department of Neurology, Shengjing Hospital of China Medical University, Shenyang, Liaoning, 110000, China.; Qiao Y

Subjects: Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/genetics ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/diagnosis ; Mutation*

  • Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Dec; Vol. 45 (12), pp. 5605-5615. Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Ultrasound assisted versus landmark based intrathecal administration of nusinersen in adults with spinal muscular atrophy disease: A randomized trial.

  • Authors : Zanfini BA; Department of Emergency, Anesthesiological and Reanimation Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; Catarci S

Subjects: Oligonucleotides*/Oligonucleotides*/Oligonucleotides*/administration & dosage ; Injections, Spinal*/Injections, Spinal*/Injections, Spinal*/methods ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/drug therapy

  • Source: Muscle & nerve [Muscle Nerve] 2024 Nov; Vol. 70 (5), pp. 1018-1026. Date of Electronic Publication: 2024 Sep 08.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Safety of risdiplam in spinal muscular atrophy patients after short-term treatment with nusinersen.

  • Authors : Yan Y; Department of Neurology, Children's Hospital, Zhejiang University School of Medicine; National Clinical Research Center for Child Health, Hangzhou, China.

Subjects: Oligonucleotides*/Oligonucleotides*/Oligonucleotides*/therapeutic use ; Oligonucleotides*/Oligonucleotides*/Oligonucleotides*/adverse effects ; Oligonucleotides*/Oligonucleotides*/Oligonucleotides*/administration & dosage

  • Source: Muscle & nerve [Muscle Nerve] 2024 Nov; Vol. 70 (5), pp. 1095-1098. Date of Electronic Publication: 2024 Aug 13.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Nutrition outcomes of disease modifying therapies in spinal muscular atrophy: A systematic review.

  • Authors : O'Brien K; Department of Nutrition, Dietetics and Food, Monash University, Faculty of Medicine Nursing and Health Sciences, Melbourne, Australia.; Department of Nutrition and Food Services, Royal Children's Hospital, Melbourne, Australia.

Subjects: Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/therapy ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/drug therapy ; Oligonucleotides*/Oligonucleotides*/Oligonucleotides*/therapeutic use

  • Source: Muscle & nerve [Muscle Nerve] 2024 Nov; Vol. 70 (5), pp. 890-902. Date of Electronic Publication: 2024 Aug 11.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Transverse interlaminar ultrasound-guided C1-C2 puncture for the intrathecal administration of nusinersen in patients with spinal muscular atrophy.

  • Authors : Yuan Q; Department of Anesthesiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.; Cui X

Subjects: Oligonucleotides*/Oligonucleotides*/Oligonucleotides*/administration & dosage ; Injections, Spinal*/Injections, Spinal*/Injections, Spinal*/methods ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/drug therapy

  • Source: Muscle & nerve [Muscle Nerve] 2024 Oct; Vol. 70 (4), pp. 837-842. Date of Electronic Publication: 2024 Jul 25.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Analysis of blood concentrations and clinical application of risdiplam in patients with spinal muscular atrophy using ultra-high performance liquid chromatography-tandem mass spectrometry.

  • Authors : Wu X; Department of Clinical Pharmacy, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.; Department of Pharmacy, Chongqing Medical University, Chongqing, China.

Subjects: Tandem Mass Spectrometry*/Tandem Mass Spectrometry*/Tandem Mass Spectrometry*/methods ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/blood; Humans

  • Source: Biomedical chromatography : BMC [Biomed Chromatogr] 2024 Oct; Vol. 38 (10), pp. e5934. Date of Electronic Publication: 2024 Jul 15.Publisher: Wiley Country of Publication: England NLM ID: 8610241 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1099-0801

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Academic Journal

Targeting STMN2 for neuroprotection and neuromuscular recovery in Spinal Muscular Atrophy: evidence from in vitro and in vivo SMA models.

  • Authors : Pagliari E; Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.; Taiana M

Subjects: Stathmin*/Stathmin*/Stathmin*/metabolism ; Stathmin*/Stathmin*/Stathmin*/genetics ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/therapy

  • Source: Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2024 Dec 27; Vol. 82 (1), pp. 29. Date of Electronic Publication: 2024 Dec 27.Publisher: Springer Country of Publication: Switzerland NLM ID: 9705402 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-9071

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  • 1-10 of  129,959 results for ""SPINAL muscular atrophy""