A. Vihola

发表

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.

N. Hübner, L. Medne, M. Gautel, 2014, Human molecular genetics.

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

Leena Peltonen, Siegfried Labeit, Bjarne Udd, 2002, American journal of human genetics.

Atypical phenotypes in titinopathies explained by second titin mutations

I. Richard, B. Eymard, R. Rojas-García, 2014, Annals of neurology.

Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort

E. Bertini, M. Pane, E. Mercuri, 2015, Journal of Neurology.

Increasing Role of Titin Mutations in Neuromuscular Disorders

B. Udd, A. Vihola, M. Savarese, 2016, Journal of neuromuscular diseases.

Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis

A. Forrest, G. Ravenscroft, N. Laing, 2021, bioRxiv.

Panorama of the distal myopathies

B. Udd, A. Vihola, M. Savarese, 2020, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Secondary calpain3 deficiency in 2q-linked muscular dystrophy

L. Peltonen, I. Richard, T. Voit, 2001, Neurology.

The role of titin in muscular disorders

A. Vihola, J. Hackman, A. B. Udd, 2003, Annals of medicine.

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)

I. Richard, B. Eymard, I. Illa, 2008, Neuromuscular Disorders.

Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band – implications for hereditary myopathies

M. Gautel, A. Fukuzawa, A. Ferreiro, 2008, Journal of Cell Science.

A ‘second truncation’ in TTN causes early onset recessive muscular dystrophy

D. MacArthur, K. Bushby, Hanns Lochmüller, 2017, Neuromuscular Disorders.

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

J. Pouget, G. Tasca, B. Udd, 2017, Molecular Neurobiology.

A new titinopathy

I. Nelson, E. Malfatti, N. Romero, 2015, Neurology.

Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2

A. Paetau, G. Meola, G. Bassez, 2003, Neurology.

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene

A. Paetau, K. Pelin, V. Lehtokari, 2019, Neuromuscular Disorders.

New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy

V. Kimonis, B. Udd, Sha Tang, 2019, Neurology: Genetics.

Title New family with HSPB 8-associated autosomal dominant rimmed vacuolar myopathy

V. Kimonis, Sha Tang, A. Vihola, 2022 .

Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

E. Génin, J. Ricci, B. Udd, 2018, Neurobiology of Disease.

Myotilinopathy in a family with late onset myopathy

O. Carpén, M. Fardeau, F. Dubas, 2006, Neuromuscular Disorders.

An unusual ryanodine receptor 1 (RYR1) phenotype

M. Pane, E. Mercuri, P. Hartikainen, 2019, Neurology.

The phenotype of dysferlin-deficient mice is not rescued by adeno-associated virus-mediated transfer of anoctamin 5.

I. Richard, B. Udd, A. Vihola, 2013, Human gene therapy. Clinical development.

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

M. Hauser, N. Katsanis, J. Stajich, 2012, Nature Genetics.

Titin mutation segregates with hereditary myopathy with early respiratory failure.

M. Santibanez-Koref, P. Chinnery, R. Horvath, 2012, Brain : a journal of neurology.

G.O.16 Differential isoform expression and selective muscle involvement in muscular dystrophies

P. Somervuo, P. Auvinen, K. Pelin, 2015, Neuromuscular Disorders.

Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J

I. Richard, B. Udd, A. Vihola, 2005, Neurology.

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene

P. Lahermo, B. Udd, A. Vihola, 2021, Neurology: Genetics.

Interactions with M-band Titin and Calpain 3 Link Myospryn (CMYA5) to Tibial and Limb-girdle Muscular Dystrophies*

G. Blandin, I. Richard, E. Ehler, 2010, The Journal of Biological Chemistry.

Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family

K. Bushby, F. Norwood, V. Straub, 2015, Journal of Neurology, Neurosurgery & Psychiatry.

Genotype–phenotype correlations in recessive titinopathies

M. Pane, E. Mercuri, F. Muntoni, 2020, Genetics in Medicine.

CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.

I. Richard, B. Udd, A. Vihola, 2015, Human molecular genetics.

Altered expression and splicing of Ca2+ metabolism genes in myotonic dystrophies DM1 and DM2

R. Krahe, L. Bachinski, B. Udd, 2013, Neuropathology and applied neurobiology.

Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies.

I. Richard, A. Tarrade, B. Udd, 2010, Human molecular genetics.

Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2.

H. Haapasalo, R. Krahe, L. Bachinski, 2010, The American journal of pathology.

Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2

A. Paetau, K. Baggerly, G. Meola, 2010, Acta Neuropathologica.

Zaspopathy in a large classic late-onset distal myopathy family.

R. Griggs, N. Laing, A. Engel, 2007, Brain : a journal of neurology.

Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression

C. Weihl, B. Udd, J. Palmio, 2019, Neurology: Genetics.

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

J. Taylor, H. Goebel, P. Chinnery, 2018, The Journal of clinical investigation.

Welander distal myopathy is caused by a mutation in the RNA‐binding protein TIA1

Bjarne Udd, Peter Hackman, Juha Kere, 2013, Annals of neurology.

New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2)

G. Meola, K. Huoponen, H. Haapasalo, 2004, Neuromuscular Disorders.

The Kinase Domain of Titin Controls Muscle Gene Expression and Protein Turnover

Thomas Sejersen, Stephan Lange, Bjarne Udd, 2005, Science.

HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies

B. Asselbergh, V. Kimonis, V. Mouly, 2023, Autophagy.

Mutations in the J domain of DNAJB6 cause dominant distal myopathy

E. Kerty, I. Nishino, M. Nakagawa, 2019, Neuromuscular Disorders.

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

G. Comi, N. Romero, G. Piluso, 2021, Acta Neuropathologica.

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

B. Udd, J. Palmio, A. Vihola, 2019, Journal of Neurology.

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

Marika Pane, Claudio Bruno, Lucio Santoro, 2018, JAMA neurology.

TIA 1 variant drives myodegeneration in multisystem proteinopathy with SQSTM 1 mutations

J. Taylor, H. Goebel, P. Chinnery, 2018 .

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

D. MacArthur, M. Lek, L. Waddell, 2016, Neurology.

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

F. García‐Bragado, B. Udd, J. Weinberg, 2019, Annals of neurology.

Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis

B. Udd, J. Palmio, A. Vihola, 2021, bioRxiv.

Adult onset limb-girdle muscular dystrophy — A recessive titinopathy masquerading as myositis

E. Leshinsky‐Silver, B. Udd, P. Plotz, 2015, Journal of the Neurological Sciences.

G.P.34 The expanding spectrum of congenital titinopathies

C. Bönnemann, M. Gautel, E. Uro-Coste, 2014, Neuromuscular Disorders.

Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin

K. Pelin, V. Lehtokari, C. Wallgren‐Pettersson, 2021, Neuromuscular Disorders.

Diagnostic anoctamin‐5 protein defect in patients with ANO5‐mutated muscular dystrophy

B. Brais, I. Richard, B. Eymard, 2018, Neuropathology and applied neurobiology.