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Lista de obras de Kinji Ohno

A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1

artículo científico publicado en 2014

A frameshifting mutation in CHRNE unmasks skipping of the preceding exon

artículo científico publicado en 2003

A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular space

artículo científico publicado en 2015

A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes.

artículo científico publicado en 2012

AChR channel blockade by quinidine sulfate reduces channel open duration in the slow-channel congenital myasthenic syndrome.

artículo científico publicado en 1998

AG-dependent 3'-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon. ⬇️

artículo científico publicado en 2011

Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating

scientific article published on 01 March 1999

Activated FGFR3 promotes bone formation via accelerating endochondral ossification in mouse model of distraction osteogenesis

artículo científico publicado en 2017

Agrin-LRP4-MuSK signaling as a therapeutic target for myasthenia gravis and other neuromuscular disorders

artículo científico publicado en 2017

Alu-mediated acquisition of unstable ATTCT pentanucleotide repeats in the human ATXN10 gene

artículo científico publicado en 2009

An ENU-induced splice site mutation of mouse Col1a1 causing recessive osteogenesis imperfecta and revealing a novel splicing rescue

artículo científico publicado en 2017

Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)

artículo científico publicado en 2009

Anti-MuSK antibodies in myasthenia gravis block binding of collagen Q to MuSK ⬇️

artículo científico publicado el 1 de enero de 2012

Anti-MuSK autoantibodies block binding of collagen Q to MuSK ⬇️

artículo científico publicado el 19 de octubre de 2011

Author Correction: Mianserin suppresses R-spondin 2-induced activation of Wnt/β-catenin signaling in chondrocytes and prevents cartilage degradation in a rat model of osteoarthritis

artículo científico publicado en 2020

Beneficial biological effects and the underlying mechanisms of molecular hydrogen - comprehensive review of 321 original articles.

artículo científico publicado en 2015

C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse

artículo científico publicado en 2003

CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study

scientific journal article

CUGBP1 and MBNL1 preferentially bind to 3' UTRs and facilitate mRNA decay

artículo científico publicado en 2012

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

artículo científico publicado en 2001

Choline acetyltransferase structure reveals distribution of mutations that cause motor disorders.

artículo científico publicado en 2004

Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2.

artículo científico publicado en 2014

Clinical dosage of meclozine promotes longitudinal bone growth, bone volume, and trabecular bone quality in transgenic mice with achondroplasia.

artículo científico publicado en 2017

Clinically applicable antianginal agents suppress osteoblastic transformation of myogenic cells and heterotopic ossifications in mice

artículo científico publicado en 2012

Collagen Q and anti-MuSK autoantibody competitively suppress agrin/LRP4/MuSK signaling

artículo científico publicado en 2015

Collagen Q is a key player for developing rational therapy for congenital myasthenia and for dissecting the mechanisms of anti-MuSK myasthenia gravis

artículo científico

Competitive regulation of alternative splicing and alternative polyadenylation by hnRNP H and CstF64 determines acetylcholinesterase isoforms

artículo científico publicado en 2017

Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?

artículo científico publicado en 1999

Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.

artículo científico publicado en 2008

Congenital myasthenic syndrome associated with episodic apnea and sudden infant death

artículo científico publicado en 2002

Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor epsilon subunit gene

scientific article published on 01 May 1999

Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit

artículo científico publicado en 1996

Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR epsilon subunit gene.

artículo científico publicado en 1998

Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit

artículo científico publicado en 1995

Congenital myasthenic syndrome in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits

artículo científico publicado en 2014

Congenital myasthenic syndromes

artículo científico publicado en 2003

Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations

artículo científico publicado en 1997

Congenital myasthenic syndromes. New insights from molecular genetic and patch-clamp studies.

artículo científico publicado en 1998

Congenital myasthenic syndromes: A diverse array of molecular targets.

artículo científico publicado en 2003

Congenital myasthenic syndromes: experiments of nature

scientific article published on 01 April 1998

Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction.

artículo científico publicado en 2003

Congenital myasthenic syndromes: progress over the past decade.

artículo científico publicado en 2003

Correction

Correction: Zonisamide Enhances Neurite Elongation of Primary Motor Neurons and Facilitates Peripheral Nerve Regeneration In Vitro and in a Mouse Model

artículo científico publicado en 2016

Differential effects of spinal motor neuron-derived and skeletal muscle-derived Rspo2 on acetylcholine receptor clustering at the neuromuscular junction

artículo científico publicado en 2018

Differently deleted mitochondrial genomes in maternally inherited chronic progressive external ophthalmoplegia

artículo científico publicado en 1989

Direct DNA sequencing from colony: analysis of multiple deletions of mitochondrial genome ⬇️

artículo científico publicado el 27 de agosto de 1991

Direct sequencing of deleted mitochondrial DNA in myopathic patients

scientific article published on 01 October 1989

Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease

artículo científico publicado en 1991

Dopaminergic differentiation of stem cells from human deciduous teeth and their therapeutic benefits for Parkinsonian rats

artículo científico publicado en 2015

Drinking hydrogen water and intermittent hydrogen gas exposure, but not lactulose or continuous hydrogen gas exposure, prevent 6-hydorxydopamine-induced Parkinson's disease in rats

artículo científico publicado en 2012

E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome

artículo científico publicado en 2003

Effects of preceding sialadenitis on the development of autoimmunity against salivary gland

artículo científico publicado en 2007

End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit

artículo científico publicado en 1996

Essential role of GATA transcriptional factors in the activation of mast cells

artículo científico publicado en 2007

Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genes.

artículo científico publicado en 2013

Extremely low-frequency pulses of faint magnetic field induce mitophagy to rejuvenate mitochondria

scientific article published on 12 May 2022

FUS regulates AMPA receptor function and FTLD/ALS-associated behaviour via GluA1 mRNA stabilization

artículo científico publicado en 2015

FUS-mediated regulation of alternative RNA processing in neurons: insights from global transcriptome analysis

artículo científico publicado en 2016

FUS-regulated region- and cell-type-specific transcriptome is associated with cell selectivity in ALS/FTLD ⬇️

artículo científico publicado el 1 de enero de 2013

Fluoxetine ameliorates cartilage degradation in osteoarthritis by inhibiting Wnt/β-catenin signaling

artículo científico publicado en 2017

Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy

artículo científico publicado en 2012

Frameshifting and splice-site mutations in the acetylcholine receptor epsilon subunit gene in three Turkish kinships with congenital myasthenic syndromes.

artículo científico publicado en 1998

Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia

artículo científico publicado en 2001

Global identification of hnRNP A1 binding sites for SSO-based splicing modulation.

artículo científico publicado en 2016

Glycosylation defects as an emerging novel cause leading to a limb-girdle type of congenital myasthenic syndromes ⬇️

artículo científico publicado el 2 de marzo de 2013

HnRNP C, YB-1 and hnRNP L coordinately enhance skipping of human MUSK exon 10 to generate a Wnt-insensitive MuSK isoform

artículo científico publicado en 2014

HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA.

artículo científico publicado en 2013

Human branch point consensus sequence is yUnAy

artículo científico publicado en 2008

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme ⬇️

artículo científico publicado el 4 de agosto de 1998

Hydrogen ameliorates pulmonary hypertension in rats by anti-inflammatory and antioxidant effects

artículo científico publicado en 2015

Hydrogen-rich water ameliorates bronchopulmonary dysplasia (BPD) in newborn rats

artículo científico publicado en 2016

Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8.

artículo científico publicado en 2011

Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia

artículo científico publicado en 2015

In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites

artículo científico publicado en 2007

Inhalation of hydrogen gas elevates urinary 8-hydroxy-2'-deoxyguanine in Parkinson's disease

scientific article published on 01 October 2018

Inhibition of cyclooxygenase-1 by nonsteroidal anti-inflammatory drugs demethylates MeR2 enhancer and promotes Mbnl1 transcription in myogenic cells

artículo científico publicado en 2020

IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome.

artículo científico publicado en 2016

Interactions between genetic polymorphisms of glucose metabolizing genes and smoking and alcohol consumption in the risk of type 2 diabetes mellitus.

artículo científico publicado en 2017

Intestinal Dysbiosis and Lowered Serum Lipopolysaccharide-Binding Protein in Parkinson's Disease

artículo científico publicado en 2015

Is the serum creatine kinase level elevated in congenital myasthenic syndrome?

artículo científico publicado en 2016

LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity.

artículo científico publicado en 2014

LRP4 induces extracellular matrix productions and facilitates chondrocyte differentiation

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Lack of Fgf18 causes abnormal clustering of motor nerve terminals at the neuromuscular junction with reduced acetylcholine receptor clusters

artículo científico publicado en 2018

Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders

artículo científico publicado en 2004

Lansoprazole Upregulates Polyubiquitination of the TNF Receptor-Associated Factor 6 and Facilitates Runx2-mediated Osteoblastogenesis

artículo científico publicado en 2015

Long-range PCR for the diagnosis of spinocerebellar ataxia type 10.

artículo científico publicado en 2008

MELAS- and kearns-sayre-type with myopathy and autoimmune polyendocrinopahy

scientific article published on 01 June 1996

MYRF is associated with encephalopathy with reversible myelin vacuolization

artículo científico publicado en 2017

Maternal administration of meclozine for the treatment of foramen magnum stenosis in transgenic mice with achondroplasia

artículo científico publicado en 2016

Maternal inheritance of deleted mitochondrial DNA in a family with mitochondrial myopathy

artículo científico publicado en 1988

Maternal molecular hydrogen administration ameliorates rat fetal hippocampal damage caused by in utero ischemia-reperfusion.

artículo científico publicado en 2014

Mechanistic diversity underlying fast channel congenital myasthenic syndromes.

artículo científico publicado en 2003

Meclozine Promotes Longitudinal Skeletal Growth in Transgenic Mice with Achondroplasia Carrying a Gain-of-Function Mutation in theFGFR3Gene

article

Meclozine facilitates proliferation and differentiation of chondrocytes by attenuating abnormally activated FGFR3 signaling in achondroplasia

artículo científico publicado en 2013

Mianserin suppresses R-spondin 2-induced activation of Wnt/β-catenin signaling in chondrocytes and prevents cartilage degradation in a rat model of osteoarthritis

artículo científico publicado en 2019

Mitochondrial DNA deletions in inherited recurrent myoglobinuria

artículo científico publicado en 1991

Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).

artículo científico publicado en 1991

Mitochondrial leucine tRNA mutation in a mitochondrial encephalomyopathy ⬇️

artículo científico publicado el 26 de enero de 1991

Mitochondrial mutation in fatal infantile cardiomyopathy

artículo científico publicado en 1990

Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit

artículo científico publicado en 1998

Molecular and genetic analyses of two patients with Pearson's marrow-pancreas syndrome

scientific article published on 01 July 1993

Molecular hydrogen alleviates motor deficits and muscle degeneration in mdx mice.

artículo científico publicado en 2016

Molecular hydrogen ameliorates several characteristics of preeclampsia in the Reduced Uterine Perfusion Pressure (RUPP) rat model.

artículo científico publicado en 2016

Molecular hydrogen as an emerging therapeutic medical gas for neurodegenerative and other diseases

artículo científico publicado en 2012

Molecular hydrogen attenuates fatty acid uptake and lipid accumulation through downregulating CD36 expression in HepG2 cells

artículo científico publicado en 2013

Molecular hydrogen inhibits lipopolysaccharide/interferon γ-induced nitric oxide production through modulation of signal transduction in macrophages

artículo científico publicado en 2011

Molecular hydrogen is protective against 6-hydroxydopamine-induced nigrostriatal degeneration in a rat model of Parkinson's disease.

artículo científico publicado en 2009

Molecular hydrogen suppresses FcepsilonRI-mediated signal transduction and prevents degranulation of mast cells

artículo científico publicado en 2009

Molecular hydrogen suppresses activated Wnt/β-catenin signaling

artículo científico publicado en 2016

Molecular hydrogen upregulates heat shock response and collagen biosynthesis, and downregulates cell cycles - Meta-analyses of gene expression profiles

artículo científico publicado en 2018

Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy

scientific article published on 01 July 1990

Multiple populations of deleted mitochondrial DNA detected by a novel gene amplification method

artículo científico publicado en 1989

Mutation analysis of a large cohort of GNE myopathy reveals a diverse array of GNE mutations affecting sialic acid biosynthesis

artículo científico publicado en 2013

Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.

artículo científico publicado en 2003

Mutation in the M1 Domain of the Acetylcholine Receptor α Subunit Decreases the Rate of Agonist Dissociation ⬇️

artículo científico publicado el 1 de junio de 1997

Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity

artículo científico publicado en 1995

Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction

artículo científico publicado en 2013

Myasthenic syndrome caused by mutation of the SCN4A sodium channel

artículo científico publicado en 2003

Myasthenic syndrome caused by plectinopathy

artículo científico publicado en 2011

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

artículo científico publicado en 2009

Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor

artículo científico publicado en 1998

Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families.

artículo científico publicado en 2007

Myotonic dystrophy type 2 is rare in the Japanese population

scientific article published on 19 January 2012

Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating.

artículo científico publicado en 2002

Neuroprotective potential of molecular hydrogen against perinatal brain injury via suppression of activated microglia.

artículo científico publicado en 2015

New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome

artículo científico publicado en 1996

Noninvasive monitoring of plasma L-dopa concentrations using sweat samples in Parkinson's disease.

artículo científico publicado en 2015

Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine

artículo científico publicado en 2004

Open-label trial and randomized, double-blind, placebo-controlled, crossover trial of hydrogen-enriched water for mitochondrial and inflammatory myopathies

artículo científico publicado en 2011

Perhexiline maleate in the treatment of fibrodysplasia ossificans progressiva: an open-labeled clinical trial

artículo científico publicado en 2013

Phenylbutazone induces expression of MBNL1 and suppresses formation of MBNL1-CUG RNA foci in a mouse model of myotonic dystrophy

artículo científico publicado en 2016

Polymorphisms in Four Genes (KCNQ1 rs151290, KLF14 rs972283, GCKR rs780094 and MTNR1B rs10830963) and Their Correlation with Type 2 Diabetes Mellitus in Han Chinese in Henan Province, China

artículo científico publicado en 2016

Position-dependent FUS-RNA interactions regulate alternative splicing events and transcriptions

artículo científico publicado en 2012

Position-specific binding of FUS to nascent RNA regulates mRNA length

artículo científico publicado en 2015

Progression of Parkinson's disease is associated with gut dysbiosis: Two-year follow-up study

artículo científico publicado en 2017

Progressive external ophthalmoplegia and myositis

scientific article published on 01 April 1993

Promethazine Hydrochloride Inhibits Ectopic Fat Cell Formation in Skeletal Muscle

artículo científico publicado en 2017

Protein-Anchoring Therapy of Biglycan for Mdx Mouse Model of Duchenne Muscular Dystrophy.

artículo científico publicado en 2016

Protein-anchoring Strategy for Delivering Acetylcholinesterase to the Neuromuscular Junction ⬇️

artículo científico publicado el 28 de febrero de 2012

Protein-anchoring therapy to target extracellular matrix proteins to their physiological destinations

artículo científico publicado en 2018

Quantification of hydrogen production by intestinal bacteria that are specifically dysregulated in Parkinson's disease

artículo científico publicado en 2018

Quinidine normalizes the open duration of slow-channel mutants of the acetylcholine receptor

artículo científico publicado en 1998

R-spondin 2 facilitates differentiation of proliferating chondrocytes into hypertrophic chondrocytes by enhancing Wnt/β-catenin signaling in endochondral ossification.

artículo científico publicado en 2016

R-spondin 2 promotes acetylcholine receptor clustering at the neuromuscular junction via Lgr5.

artículo científico publicado en 2016

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome

artículo científico publicado en 2002

Rare loss of function mutations in N-methyl-D-aspartate glutamate receptors and their contributions to schizophrenia susceptibility.

artículo científico publicado en 2018

Repositioning again of zonisamide for nerve regeneration

artículo científico publicado en 2016

Roles of collagen Q in MuSK antibody-positive myasthenia gravis

artículo científico publicado en 2016

Rules and tools to predict the splicing effects of exonic and intronic mutations

artículo científico publicado en 2017

S100A10 is required for the organization of actin stress fibers and promotion of cell spreading ⬇️

artículo científico publicado el 6 de noviembre de 2012

SIL1, a causative cochaperone gene of Marinesco-Söjgren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex

artículo científico publicado en 2014

SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome

artículo científico publicado en 2015

SRSF1 suppresses selection of intron-distal 5' splice site of DOK7 intron 4 to generate functional full-length Dok-7 protein.

artículo científico publicado en 2017

Searching for genomic region of high-fat diet-induced type 2 diabetes in mouse chromosome 2 by analysis of congenic strains

artículo científico publicado en 2014

Serum Tyrosine-to-Phenylalanine Ratio is Low in Parkinson's Disease.

artículo científico publicado en 2016

Short chain fatty acids-producing and mucin-degrading intestinal bacteria predict the progression of early Parkinson's disease

scientific article published on 01 June 2022

Simultaneous oral and inhalational intake of molecular hydrogen additively suppresses signaling pathways in rodents

artículo científico publicado en 2015

Six GU-rich (6GUR) FUS-binding motifs detected by normalization of CLIP-seq by Nascent-seq

artículo científico publicado en 2017

Sleuthing molecular targets for neurological diseases at the neuromuscular junction ⬇️

artículo científico publicado el 1 de mayo de 2003

Specific amplification of deleted mitochondrial DNA from a myopathic patient and analysis of deleted region with S1 nuclease

scientific article published on 01 November 1989

Specific binding of collagen Q to the neuromuscular junction is exploited to cure congenital myasthenia and to explore bases of myasthenia gravis

artículo científico publicado en 2012

Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries.

artículo científico publicado en 2005

Splicing regulation and dysregulation of cholinergic genes expressed at the neuromuscular junction.

artículo científico publicado en 2017

Studies on therapeutic strategies for congenital myasthenic syndromes

artículo científico publicado en 2017

Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker.

artículo científico publicado en 2004

Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome

scientific article published on 15 January 2009

The ALS/FTLD-related RNA-binding proteins TDP-43 and FUS have common downstream RNA targets in cortical neurons

artículo científico publicado en 2013

The spectrum of congenital myasthenic syndromes.

artículo científico publicado en 2002

The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome.

artículo científico publicado en 2012

Thermodynamic instability of siRNA duplex is a prerequisite for dependable prediction of siRNA activities

artículo científico publicado en 2007

Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.

artículo científico publicado en 2002

Tranilast stimulates endochondral ossification by upregulating SOX9 and RUNX2 promoters

artículo científico publicado en 2016

Urinary 8-hydroxydeoxyguanosine correlate with hallucinations rather than motor symptoms in Parkinson's disease

artículo científico publicado en 2010

Verapamil protects against cartilage degradation in osteoarthritis by inhibiting Wnt/β-catenin signaling

artículo científico publicado en 2014

Viral vector-mediated [corrected] expression of human collagen Q in cultured cells

artículo científico publicado en 2008

Wnt/β-catenin signaling suppresses expressions of Scx, Mkx, and Tnmd in tendon-derived cells

artículo científico publicado en 2017

Zonisamide Enhances Neurite Elongation of Primary Motor Neurons and Facilitates Peripheral Nerve Regeneration In Vitro and in a Mouse Model ⬇️

artículo científico publicado en 2015

[Beneficial effects of 3,4-diaminopyridine in a 26-year-old woman with DOK7 congenital myasthenic syndrome who was originally diagnosed with facioscapulohumeral dystrophy].

artículo científico publicado en 2014

[Congenital myasthenic syndromes]

scientific article published on 01 January 2012

hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome

artículo científico publicado en 2008

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