Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations

Mutations inGMPPBcause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

(2015) Katsiaryna Belaya et al.   BRAIN

Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy

(2015) Pamela A. Long et al.   Journal of the American Heart Association

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

(2014) David N. Herrmann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Atypical Aicardi-Goutieres syndrome: Is theWRNlocus a modifier?

(2014) Davor Lessel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

PrimeIndel: Four-prime-number genetic code for indel decryption and sequence read alignment

(2014) Ching-Wan Lam   CLINICA CHIMICA ACTA

The many isoforms of human adenylate kinases

(2014) Christakis Panayiotou et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

N-Glycosylation of Asparagine 8 Regulates Surface Expression of Major Histocompatibility Complex Class I Chain-related Protein A (MICA) Alleles Dependent on Threonine 24

(2014) Maiken Mellergaard et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome

(2014) L. Regal et al.   NEUROLOGY

Uridine Affects Liver Protein Glycosylation, Insulin Signaling, and Heme Biosynthesis

(2014) Yasuyo Urasaki et al.   PLoS One

An oncogenic super-enhancer formed through somatic mutation of a noncoding intergenic element

(2014) M. R. Mansour et al.   SCIENCE

Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes

(2013) Henry Houlden   BRAIN

Congenital myasthenic syndromes due to mutations inALG2andALG14

(2013) Judith Cossins et al.   BRAIN

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR

(2013) Katarzyna Zoltowska et al.   HUMAN MOLECULAR GENETICS

LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner

(2013) Bisei Ohkawara et al.   HUMAN MOLECULAR GENETICS

The human adenylate kinase 9 is a nucleoside mono- and diphosphate kinase

(2013) Marjan Amiri et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

A perspective on mammalian upstream open reading frame function

(2013) Joanna Somers et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease

(2013) Chee-Seng Ku et al.   JOURNAL OF MEDICAL GENETICS

Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

(2012) Katsiaryna Belaya et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neurology of inherited glycosylation disorders

(2012) Hudson H Freeze et al.   LANCET NEUROLOGY

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

(2011) Jan Senderek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations

(2010) Wai-Lan Yeung et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

(2009) Caroline Huzé et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

(2009) R A Maselli et al.   JOURNAL OF MEDICAL GENETICS

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients

(2009) M. Milone et al.   NEUROLOGY

Mutation of Murine Adenylate Kinase 7 Underlies a Primary Ciliary Dyskinesia Phenotype

(2008) Angeles Fernandez-Gonzalez et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

(2008) Chantal Lagresle-Peyrou et al.   NATURE GENETICS

Severe Congenital Myasthenia Gravis of the Presynaptic Type with Choline Acetyltransferase Mutation in a Chinese Infant with Respiratory Failure

(2008) Wai L. Yeung et al.   Neonatology