J. Sarparanta

发表

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.

Increasing Role of Titin Mutations in Neuromuscular Disorders

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

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.

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

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

Autophagy and Mitochondria in Obesity and Type 2 Diabetes.

Rajat Singh, M. García-Macía, J. Sarparanta, 2017, Current diabetes reviews.

234th ENMC International Workshop: Chaperone dysfunction in muscle disease Naarden, The Netherlands, 8–10 December 2017

L. Greensmith, H. Kampinga, R. Bryson-Richardson, 2018, Neuromuscular Disorders.

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

Mark R. Marten, Erinna F. Lee, Dana L. Miller, 2021, Autophagy.

Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype

B. Udd, P. Hackman, J. Sarparanta, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy

H. Haapasalo, B. Udd, P. Hackman, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

Biology of myospryn: what’s known?

J. Sarparanta, 2008, Journal of Muscle Research and Cell Motility.

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results

B. Udd, J. Sarparanta, P. Jonson, 2020, International journal of molecular sciences.

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

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

Enrichment of the R77C α‐sarcoglycan gene mutation in finnish LGMD2D patients

H. Kalimo, H. Pihko, B. Udd, 2005 .

Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients.

H. Kalimo, H. Pihko, B. Udd, 2005, Muscle & nerve.

Molecular pathomechanisms of muscular dystrophies

J. Sarparanta, 2013 .

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.

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

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

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.

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.

Constitutive upregulations of titin-based signalling proteins in KY deficient muscles

G. Blanco, B. Udd, J. Sarparanta, 2006, Neuromuscular Disorders.

Autophagy Regulates the Liver Clock and Glucose Metabolism by Degrading CRY1.

J. Pessin, G. Schwartz, Rajat Singh, 2018, Cell metabolism.

Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus

A. Paetau, H. Kalimo, B. Udd, 2011, Neuromuscular Disorders.

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.

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

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

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.

Autophagy Regulates the Liver Clock and Glucose Metabolism by Degrading CRY 1 Graphical

J. Pessin, G. Schwartz, Rajat Singh, 2022 .

G.P.38 The LGMD1D gene DNAJB6: Its role in sarcomeric protein maintenance and aggregation

B. Udd, J. Sarparanta, P. Jonson, 2012, Neuromuscular Disorders.

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.

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Beryl B. Cummings, Kristen M. Laricchia, A. O’Donnell-Luria, 2024, Nature genetics.