Research & Literature

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

Safka Brozkova D, Deconinck T, Griffin LB, et al.

Brain : a journal of neurology 2015; (138(Pt 8)):2161-72 doi:10.1093/brain/awv158.

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.

Bucelli RC, Arhzaouy K, Pestronk A, et al.

Neurology 2015; (85(8)):665-74 doi:10.1212/WNL.0000000000001864.

[GNE myopathy].

Urtizberea JA, Béhin A

Medecine sciences : M/S 2015; (31 Spec No 3()):20-7 doi:10.1051/medsci/201531s306.

Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants.

Brand P, Dyck PJ, Liu J, et al.

Neuromuscular disorders : NMD 2016; (26(8)):511-5.

Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient.

Gass J, Blackburn P, Jackson J, et al.

Journal of clinical neuromuscular disease 2017; (18(3)):152-156 doi:10.1097/CND.0000000000000164.

Distal myopathies in Finnish patients.

Palmio J, Jokela M, Sandell S, et al.

Duodecim; laaketieteellinen aikakauskirja 2016; (132(18)):1635-44.

A novel mutation of LRSAM1 in a Chinese family with Charcot-Marie-Tooth disease.

Zhao G, Song J, Yang M, et al.

Journal of the peripheral nervous system : JPNS 2018; (23(1)):55-59 doi:10.1111/jns.12247.

Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features.

Niu Z, Pontifex CS, Berini S, et al.

Frontiers in neurology 2018; (9()):147 doi:10.3389/fneur.2018.00147.

A Heterologous Cell Model for Studying the Role of T-Cell Intracellular Antigen 1 in Welander Distal Myopathy.

Carrascoso I, Sánchez-Jiménez C, Silion E, et al.

Molecular and cellular biology 2019; (39(1)) doi:10.1128/MCB.00299-18.

Slowly progressive distal muscle weakness: neuropathy or myopathy?

Nahari Y, Abbas A, Curtis E, Jacob S

BMJ case reports 2019; (12(4)) doi:10.1136/bcr-2018-226903.

Description of orthotic properties and effect evaluation of ankle-foot orthoses in non-spastic calf muscle weakness.

Waterval NFJ, Brehm MA, Harlaar J, Nollet F

Journal of rehabilitation medicine 2020; (52(3)):jrm00026 doi:10.2340/16501977-2642.

The clinical trial landscape in amyotrophic lateral sclerosis-Past, present, and future.

Wobst HJ, Mack KL, Brown DG, et al.

Medicinal research reviews 2020; (40(4)):1352-1384 doi:10.1002/med.21661.

Distal Myopathies.

Felice KJ

Neurologic clinics 2020; (38(3)):637-659 doi:10.1016/j.ncl.2020.03.007.

A novel application of tau PET in the diagnosis of sporadic inclusion body myositis: A case report.

Zhang Y, Li K, Pu C, et al.

Medicine 2020; (99(31)):e21524 doi:10.1097/MD.0000000000021524.

Phenotypic diversity in an international Cure VCP Disease registry.

Ikenaga C, Findlay AR, Seiffert M, et al.

Orphanet journal of rare diseases 2020; (15(1)):267 doi:10.1186/s13023-020-01551-0.

3D printing technology applied to orthosis manufacturing: narrative review.

Choo YJ, Boudier-Revéret M, Chang MC

Annals of palliative medicine 2020; (9(6)):4262-4270 doi:10.21037/apm-20-1185.

Ankle-foot orthoses improve walking but do not reduce dual-task costs after stroke.

Drake R, Parker K, Clifton KL, et al.

Topics in stroke rehabilitation 2021; (28(6)):463-473 doi:10.1080/10749357.2020.1834271.

Multisystem proteinopathy: Where myopathy and motor neuron disease converge.

Korb MK, Kimonis VE, Mozaffar T

Muscle & nerve 2021; (63(4)):442-454 doi:10.1002/mus.27097.

Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy.

Lochmüller H, Behin A, Tournev I, et al.

Journal of neuromuscular diseases 2021; (8(2)):225-234 doi:10.3233/JND-200565.

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.

Johari M, Sarparanta J, Vihola A, et al.

Acta neuropathologica 2021; (142(2)):375-393 doi:10.1007/s00401-021-02319-x.

Myopathy-associated G154S mutation causes important changes in the conformational stability, amyloidogenic properties, and chaperone-like activity of human αB-crystallin.

Khoshaman K, Ghahramani M, Shahsavani MB, et al.

Biophysical chemistry 2022; (282()):106744 doi:10.1016/j.bpc.2021.106744.

Dynamics of T-Cell Intracellular Antigen 1-Dependent Stress Granules in Proteostasis and Welander Distal Myopathy under Oxidative Stress.

Fernández-Gómez A, Velasco BR, Izquierdo JM

Cells 2022; (11(5)) doi:10.3390/cells11050884.

Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis.

Pfeffer G, Lee G, Pontifex CS, et al.

Genes 2022; (13(6)) doi:10.3390/genes13060963.

Long-term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy.

Lillback V, Savarese M, Sandholm N, et al.

European journal of neurology 2023; (30(4)):1080-1088 doi:10.1111/ene.15688.

Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature.

Wei XJ, Sun H, Miao J, et al.

Frontiers in neurology 2023; (14()):1152738 doi:10.3389/fneur.2023.1152738.

Use, tolerability, benefits and side effects of orthotic devices in Charcot-Marie-Tooth disease.

Bertini A, Manganelli F, Fabrizi GM, et al.

Journal of neurology, neurosurgery, and psychiatry 2024; (95(5)):434-441 doi:10.1136/jnnp-2023-332422.

Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.

Bermejo-Guerrero L, de Fuenmayor Fernández-de la Hoz CP, González-Quereda L, et al.

Neuromuscular disorders : NMD 2023; (33(12)):983-987 doi:10.1016/j.nmd.2023.10.016.

Comparison between prefabricated ankle-foot orthoses, Dyna Ankle and UD Flex, in patients with hemiplegia.

Lee SJ, Kim TY, Kim KM, Cho SR

The Journal of international medical research 2024; (52(3)):3000605241233514 doi:10.1177/03000605241233514.

Current advance on distal myopathy genetics.

Ranta-Aho J, Johari M, Udd B

Current opinion in neurology 2024; (37(5)):515-522 doi:10.1097/WCO.0000000000001299.

Diverse Phenotypic Presentation of the Welander Distal Myopathy Founder Mutation, With Myopathy and Amyotrophic Lateral Sclerosis in the Same Family.

Purcell N, Manousakis G

Journal of clinical neuromuscular disease 2024; (26(1)):42-46 doi:10.1097/CND.0000000000000501.

Decoding the Molecular Grammar of TIA1-Dependent Stress Granules in Proteostasis and Welander Distal Myopathy Under Oxidative Stress.

Alcalde-Rey I, Velasco BR, Alcalde J, Izquierdo JM

Cells 2024; (13(23)) doi:10.3390/cells13231961.

A Late-Onset Presentation of Miyoshi Myopathy: A Case Report.

Ansari U, Dua A, Aneja E, et al.

Cureus 2025; (17(7)):e87683 doi:10.7759/cureus.87683.

The current state of 3D-printed orthoses clinical outcomes: a systematic review.

Atallah H, Qufabz T, Bakhsh HR, Ferriero G

BMC musculoskeletal disorders 2025; (26(1)):822 doi:10.1186/s12891-025-09070-4.

Welander Distal Myopathy-Associated TIA1 E384K Mutation Disrupts Stress Granule Dynamics Under Distinct Stress Conditions.

Ramos-Velasco B, Alcalde J, Izquierdo JM

Biology 2025; (14(9)) doi:10.3390/biology14091288.

Different Lower Limb Muscle MRI Patterns in Autosomal Dominant Titinopathies.

Gómez-Andrés D, Costa-Comellas L, Díaz-Manera J, et al.

European journal of neurology 2025; (32(10)):e70348 doi:10.1111/ene.70348.