Search Results - "Glanzman AM"

Efficacy of botulinum toxin A, serial casting, and combined treatment for spastic equinus: a retrospective analysis.

Authors: Glanzman AM Kim H Swaminathan K et al.

Source: Developmental Medicine & Child Neurology. Dec2004, Vol. 46 Issue 12, p807-811. 5p.

Refining functional phenotypes in an international cohort of untreated paediatric type 2 and 3 SMA patients using the Revised Hammersmith Scale.

Authors: Milev, E Stimpson, G Ramsey, D et al.

Source: Neuromuscular Disorders. Mar2026, Vol. 60, pN.PAG-N.PAG. 1p.

Correction: Serial casting for contractures in SMA: consensus derived guidelines for treatment.

Authors: Brown L Hoffman K Corbo-Galli C et al.

Source: Frontiers in neurology [Front Neurol] 2025 Jul 16; Vol. 16, pp. 1646078. Date of Electronic Publication: 2025 Jul 16 (Print Publication: 2025).

Publication Type: Published Erratum

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Longitudinal Assessment of 4-Year HFMSE Changes in SMA II and III Patients Treated With Nusinersen.

Authors: Coratti G Bovis F Pane M et al.

Corporate Authors: Coratti G Bovis F Pane M et al.

Source: European journal of neurology [Eur J Neurol] 2025 Jul; Vol. 32 (7), pp. e70268.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

Performance outcomes of the PEDI-CAT for assessing functional ability in the population with leukodystrophy.

Authors: Cusack SV Glanzman AM Gavazzi F et al.

Corporate Authors: Cusack SV Glanzman AM Gavazzi F et al.

Source: Developmental medicine and child neurology [Dev Med Child Neurol] 2026 Apr 30. Date of Electronic Publication: 2026 Apr 30.

Publication Type: Journal Article

Journal Info: Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8749 (Electronic) Linking ISSN: 00121622 NLM ISO Abbreviation: Dev Med Child Neurol Subsets: MEDLINE

Design of a Pediatric Low Motor Function Item Battery in leukodystrophies.

Authors: Gavazzi F Woidill S Sevagamoorthy A et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 Apr; Vol. 147 (4), pp. 109866. Date of Electronic Publication: 2026 Feb 26.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS).

Authors: Sevagamoorthy A Gavazzi F Tashnim Z et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 Mar; Vol. 147 (3), pp. 109765. Date of Electronic Publication: 2026 Feb 08.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Serial casting for contractures in SMA: consensus derived guidelines for treatment.

Authors: Brown L Hoffman K Corbo-Galli C et al.

Source: Frontiers in neurology [Front Neurol] 2025 Apr 16; Vol. 16, pp. 1502495. Date of Electronic Publication: 2025 Apr 16 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale Expanded.

Authors: Coratti G Bovis F Pera MC et al.

Corporate Authors: Coratti G Bovis F Pera MC et al.

Source: European journal of neurology [Eur J Neurol] 2024 Dec; Vol. 31 (12), pp. e16517. Date of Electronic Publication: 2024 Oct 11.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

Functional ability profiles in beta-propeller protein-associated neurodegeneration (BPAN).

Authors: Gavazzi F Pierce SR Smith V et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Nov; Vol. 146 (3), pp. 109253. Date of Electronic Publication: 2025 Oct 06.

Publication Type: Journal Article; Observational Study

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome.

Authors: Cusack SV Gavazzi F de Barcelos IP et al.

Source: Journal of child neurology [J Child Neurol] 2024 Mar; Vol. 39 (3-4), pp. 147-154. Date of Electronic Publication: 2024 Mar 27.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3.

Authors: Wolfe A Stimpson G Ramsey D et al.

Corporate Authors: Wolfe A Stimpson G Ramsey D et al.

Source: Journal of neuromuscular diseases [J Neuromuscul Dis] 2024; Vol. 11 (3), pp. 665-677.

Publication Type: Journal Article

Journal Info: Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in Untreated and Nusinersen-Treated Patient Cohorts.

Authors: Pasternak A McDermott MP Montes J et al.

Corporate Authors: Pasternak A McDermott MP Montes J et al.

Source: Neurology [Neurology] 2025 Jul 22; Vol. 105 (2), pp. e213839. Date of Electronic Publication: 2025 Jun 27.

Publication Type: Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

Exploration of Gross Motor Function in Aicardi-Goutières Syndrome.

Authors: Gavazzi F Glanzman AM Woidill S et al.

Source: Journal of child neurology [J Child Neurol] 2023 Aug; Vol. 38 (8-9), pp. 518-527. Date of Electronic Publication: 2023 Jul 27.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Journal Info: Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

Psychometric evaluation of modified spinal muscular atrophy functional rating scale (SMAFRS) in adult patients using Rasch analysis.

Authors: Sadjadi R Kelly K Glanzman AM et al.

Source: Muscle & nerve [Muscle Nerve] 2023 Mar; Vol. 67 (3), pp. 239-243. Date of Electronic Publication: 2023 Jan 15.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE

Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module.

Authors: Coratti G Civitello M Rohwer A et al.

Corporate Authors: Coratti G Civitello M Rohwer A et al.

Source: Neuromuscular disorders : NMD [Neuromuscul Disord] 2024 Nov; Vol. 44, pp. 104449. Date of Electronic Publication: 2024 Aug 28.

Publication Type: Journal Article

Journal Info: Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE

Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA.

Authors: Coratti G Civitello M Rohwer A et al.

Source: Neuromuscular disorders : NMD [Neuromuscul Disord] 2024 Aug; Vol. 41, pp. 42-50. Date of Electronic Publication: 2024 May 09.

Publication Type: Journal Article

Journal Info: Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE

Different trajectories in upper limb and gross motor function in spinal muscular atrophy.

Authors: Coratti G Pera MC Montes J et al.

Source: Muscle & nerve [Muscle Nerve] 2021 Nov; Vol. 64 (5), pp. 552-559. Date of Electronic Publication: 2021 Aug 09.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE

MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase.

Authors: Lopes Abath Neto O Medne L Donkervoort S et al.

Source: Brain : a journal of neurology [Brain] 2021 Oct 22; Vol. 144 (9), pp. 2722-2731.

Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome.

Authors: Gavazzi F Vaia Y Woidill S et al.

Source: Neurology [Neurology] 2024 Jul 09; Vol. 103 (1), pp. e209541. Date of Electronic Publication: 2024 Jun 10.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE