Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy

Compressed glassy carbon: An ultrastrong and elastic interpenetrating graphene network

(2017) Meng Hu et al.   Science Advances

Expanding theMYBPC1phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita

(2016) N. Ekhilevitch et al.   CLINICAL GENETICS

The HADDOCK2.2 Web Server: User-Friendly Integrative Modeling of Biomolecular Complexes

(2016) G.C.P. van Zundert et al.   JOURNAL OF MOLECULAR BIOLOGY

Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy

(2016) Jacquelyn M. Evans et al.   MAMMALIAN GENOME

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

MYBPC1, an Emerging Myopathic Gene: What We Know and What We Need to Learn

(2016) Janelle Geist et al.   Frontiers in Physiology

TPM3deletions cause a hypercontractile congenital muscle stiffness phenotype

(2015) Sandra Donkervoort et al.   ANNALS OF NEUROLOGY

Tremor in Charcot-Marie-Tooth disease: No evidence of cerebellar dysfunction

(2015) Tabish A. Saifee et al.   CLINICAL NEUROPHYSIOLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Genetic Abnormalities in a Calf with Congenital Increased Muscular Tonus

(2015) N. Wiedemar et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

Identification of a novel nemaline myopathy-Causing mutation in the troponin T1 (TNNT1) gene: A case outside of the old order amish

(2015) Jonathan D. Marra et al.   MUSCLE & NERVE

Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1)

(2015) Ulla Najwa Abdulhaq et al.   MUSCLE & NERVE

The I-TASSER Suite: protein structure and function prediction

(2015) Jianyi Yang et al.   NATURE METHODS

The Phyre2 web portal for protein modeling, prediction and analysis

(2015) Lawrence A Kelley et al.   Nature Protocols

A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family

(2015) Stela Lefter et al.   NEUROMUSCULAR DISORDERS

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

The Phosphorylation Profile of Myosin Binding Protein-C Slow is Dynamically Regulated in Slow-Twitch Muscles in Health and Disease

(2015) Maegen A. Ackermann et al.   Scientific Reports

Myosin Binding Protein-C Slow Phosphorylation is Altered in Duchenne Dystrophy and Arthrogryposis Myopathy in Fast-Twitch Skeletal Muscles

(2015) Maegen A. Ackermann et al.   Scientific Reports

Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus

(2015) Gianina Ravenscroft et al.   BRAIN

Two Novel Mutations in Myosin Binding Protein C Slow Causing Distal Arthrogryposis Type 2 in Two Large Han Chinese Families May Suggest Important Functional Role of Immunoglobulin Domain C2

(2015) Xuefu Li et al.   PLoS One

YASARA View—molecular graphics for all devices—from smartphones to workstations

(2014) Elmar Krieger et al.   BIOINFORMATICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy

(2013) Marian A. J. Weterman et al.   BRAIN

Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow

(2013) Maegen A. Ackermann et al.   FASEB JOURNAL

Approach to the diagnosis of congenital myopathies

(2013) Kathryn N. North et al.   NEUROMUSCULAR DISORDERS

Myosin binding protein-C slow: a multifaceted family of proteins with a complex expression profile in fast and slow twitch skeletal muscles

(2013) Maegen A. Ackermann et al.   Frontiers in Physiology

Myosinopathies: pathology and mechanisms

(2012) Homa Tajsharghi et al.   ACTA NEUROPATHOLOGICA

A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs

(2012) Leonardo Murgiano et al.   BMC GENETICS

Neurohormonal Regulation of Cardiac Histone Deacetylase 5 Nuclear Localization by Phosphorylation-Dependent and Phosphorylation-Independent Mechanisms

(2012) Robert S. Haworth et al.   CIRCULATION RESEARCH

Structural Insight into Unique Cardiac Myosin-binding Protein-C Motif

(2012) Jack W. Howarth et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Template-based protein structure modeling using the RaptorX web server

(2012) Morten Källberg et al.   Nature Protocols

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement

(2012) T. Cullup et al.   NEUROMUSCULAR DISORDERS

Slow skeletal muscle myosin-binding protein-C (MyBPC1) mediates recruitment of muscle-type creatine kinase (CK) to myosin

(2011) Zhe Chen et al.   BIOCHEMICAL JOURNAL

Myosin Binding Protein-C Slow is a Novel Substrate for Protein Kinase A (PKA) and C (PKC) in Skeletal Muscle

(2011) Maegen A. Ackermann et al.   JOURNAL OF PROTEOME RESEARCH

Infantile autosomal dominant distal myopathy.

(2010) C. Scoppetta et al.   ACTA NEUROLOGICA SCANDINAVICA

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

(2010) Christina A. Gurnett et al.   HUMAN MOLECULAR GENETICS

Myosin Binding Protein C Interaction with Actin

(2010) Inna N. Rybakova et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Myosin Binding Protein-C Slow: An Intricate Subfamily of Proteins

(2010) Maegen A. Ackermann et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy

(2010) N. Muelas et al.   NEUROLOGY

Obscurin Interacts with a Novel Isoform of MyBP-C Slow at the Periphery of the Sarcomeric M-Band and Regulates Thick Filament Assembly

(2009) Maegen A. Ackermann et al.   MOLECULAR BIOLOGY OF THE CELL

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols