Whole-body muscle MRI of patients with MATR3-associated distal myopathy reveals a distinct pattern of muscular involvement and highlights the value of whole-body examination

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

(2019) Johanna Palmio et al.   JOURNAL OF NEUROLOGY

MYO-MRI Diagnostic Protocols in Genetic Myopathies

(2019) Jodi Warman Chardon et al.   NEUROMUSCULAR DISORDERS

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

(2018) YouJin Lee et al.   JOURNAL OF CLINICAL INVESTIGATION

The first French case of MATR3 -related distal myopathy: Clinical, radiological and histopathological characterization

(2018) A. Barp et al.   REVUE NEUROLOGIQUE

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies

(2018) Enrico Bugiardini et al.   Frontiers in Neurology

Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features

(2018) Zhiyv Niu et al.   Frontiers in Neurology

Gender- and Age-Related Changes in Trunk Muscle Composition Using Chemical Shift Encoding-Based Water–Fat MRI

(2018) Egon Burian et al.   Nutrients

A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population

(2017) Stojan Perić et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Distal myopathy with ADSSL1 mutations in Korean patients

(2017) Hyung Jun Park et al.   NEUROMUSCULAR DISORDERS

Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review

(2016) Doris G. Leung   JOURNAL OF NEUROLOGY

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy

(2016) Anni Evilä et al.   MOLECULAR NEUROBIOLOGY

ADSSL 1 mutation relevant to autosomal recessive adolescent onset distal myopathy

(2015) Hyung Jun Park et al.   ANNALS OF NEUROLOGY

Re-evaluation of the phenotype caused by the commonMATR3p.Ser85Cys mutation in a new family

(2015) Johanna Palmio et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Impairment of respiratory function in late-onset distal myopathy due toMATR3Mutation

(2015) Torsten Kraya et al.   MUSCLE & NERVE

SQSTM1splice site mutation in distal myopathy with rimmed vacuoles

(2015) Robert C. Bucelli et al.   NEUROLOGY

Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to aMATR3mutation

(2015) Satoshi Yamashita et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Phenotype of matrin-3-related distal myopathy in 16 German patients

(2014) Tobias J. Müller et al.   ANNALS OF NEUROLOGY

Distal Myopathies

(2014) Bjarne Udd   Current Neurology and Neuroscience Reports

Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies

(2014) Leroy ten Dam et al.   NEUROMUSCULAR DISORDERS

Hereditary myopathy with early respiratory failure: occurrence in various populations

(2013) J. Palmio et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

(2012) Monica Ohlsson et al.   BRAIN

Titin mutation segregates with hereditary myopathy with early respiratory failure

(2012) Gerald Pfeffer et al.   BRAIN

Muscle imaging findings in GNE myopathy

(2012) Giorgio Tasca et al.   JOURNAL OF NEUROLOGY

Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: A follow-up muscle MRI study

(2012) Ibrahim Mahjneh et al.   NEUROMUSCULAR DISORDERS

Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

(2011) Montse Olivé et al.   NEUROMUSCULAR DISORDERS

Distal myopathies – New genetic entities expand diagnostic challenge

(2011) Bjarne Udd   NEUROMUSCULAR DISORDERS

Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy

(2010) Sebahattin Cirak et al.   BRAIN

Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3

(2009) Jan Senderek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation

(2009) Alisdair McNeill et al.   EUROPEAN NEUROLOGY

Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study

(2008) K. Kesper et al.   ACTA NEUROLOGICA SCANDINAVICA

Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol

(2008) Nicolai Schramm et al.   EUROPEAN RADIOLOGY

Distinct muscle imaging patterns in myofibrillar myopathies

(2008) D. Fischer et al.   NEUROLOGY

Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype

(2007) J Berciano et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY