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Robin Forbes

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Articles 21
Citations 134
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Recent Articles
1.
Peric S, Ivanovic V, Ashley E, Esparis B, Campbell C, Wenninger S, et al.
J Neuromuscul Dis . 2025 Feb; 11(6):1229-1237. PMID: 39973464
Background: The TREAT-NMD Global Registry Network is a global collaboration of neuromuscular disease registries, including myotonic dystrophy type 2 (DM2), which aims to facilitate collaborative research and clinical trials. Objectives:...
2.
Crossman V, Tiong C, Coles C, Bozaoglu K, Forbes R, Yiu E, et al.
Stem Cell Res . 2025 Feb; 84:103673. PMID: 39954549
To produce an in vitro model of Bethlem myopathy, we reprogrammed the peripheral blood mononuclear cells (PBMCs) of a patient with a heterozygous COL6A1 c.1056 + 2T > A mutation...
3.
Boggs K, Lynch F, Ward M, Bouffler S, Ayres S, Forbes R, et al.
Genet Med Open . 2024 Dec; 2(Suppl 2):101878. PMID: 39712956
Genetic counselors (GCs) face unique challenges in the acute care setting. Acute care environments-such as neonatal and pediatric intensive care units-are characterized by urgency, complexity, and rapid decision making. These...
4.
Balaji L, Forbes R, Cairns A, Sampaio H, Kornberg A, Sanders L, et al.
Lancet Reg Health West Pac . 2024 Nov; 53:101237. PMID: 39559164
Background: New paradigms of diagnosis and treatment have changed the neurodegenerative trajectory for individuals with spinal muscular atrophy (SMA). Registries are a critical tool to provide real-world data on treatment...
5.
Li L, Menezes M, Smith M, Forbes R, Zuchner S, Burgess A, et al.
Neuromuscul Disord . 2024 Mar; 37:29-35. PMID: 38520993
5q-associated spinal muscular atrophy (SMA) is the most common autosomal recessive neurological disease. Depletion in functional SMN protein leads to dysfunction and irreversible degeneration of the motor neurons. Over 95...
6.
Rowland S, Forbes R, Howell D, Kelly H, Haghayegh A, Cardinale M, et al.
Can Oncol Nurs J . 2023 May; 33(2):215-222. PMID: 37152822
Purpose: The purpose of this qualitative study is to understand, from the patient's perspective, their experience of living with advanced multiple myeloma, the psychosocial impact, and needs for support in...
7.
Rowland S, Forbes R, Howell D, Kelly H, Haghayegh A, Cardinale M, et al.
Can Oncol Nurs J . 2023 May; 33(2):223-230. PMID: 37152816
No abstract available.
8.
Carroll K, Adams J, de Valle K, Forbes R, Kennedy R, Kornberg A, et al.
Muscle Nerve . 2022 Apr; 66(1):31-38. PMID: 35426158
Introduction/aims: In response to coronavirus disease 2019 (COVID-19) pandemic restrictions int 2020, our face-to-face (F2F) multidisciplinary neuromuscular clinic (NMC) transitioned to widespread use of telehealth (TH). This study aimed to...
9.
Houweling P, Coles C, Tiong C, Nielsen B, Graham A, McDonald P, et al.
Stem Cell Res . 2021 Jun; 54:102429. PMID: 34157503
To produce an in vitro model of nemaline myopathy, we reprogrammed the peripheral blood mononuclear cells (PBMCs) of a patient with a heterozygous p.Gly148Asp mutation in exon 3 of the...
10.
Pieper E, Sexton A, Ryan M, Forbes R
J Paediatr Child Health . 2020 May; 56(8):1263-1269. PMID: 32468641
Aim: In families with a child diagnosed with spinal muscular atrophy (SMA), siblings who do not have SMA could still be genetic carriers of the condition. This study is the...