S. Çırak

发表

Mutations in NSUN2 cause autosomal-recessive intellectual disability.

Dagmar Wieczorek, Stephan J Sigrist, Kirsten Cremer, 2012, American journal of human genetics.

Muscle histology vs MRI in Duchenne muscular dystrophy

E. Mercuri, K. Bushby, F. Muntoni, 2011, Neurology.

What Can We Learn From Clinical Trials of Exon Skipping for DMD?

T. Partridge, Q. Lu, S. Çırak, 2014, Molecular therapy. Nucleic acids.

The UK10K project identifies rare variants in health and disease

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2016 .

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

I. Graham, K. Bushby, F. Muntoni, 2009, The Lancet Neurology.

Evidence for dynamic interplay of different oligomeric states of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase by biophysical methods.

W. Reutter, H. Strauss, S. Çırak, 2007, Journal of molecular biology.

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

Francesco Muntoni, William B. Dobyns, Stanley F. Nelson, 2012, Nature Genetics.

Ultra‐rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours

P. Nürnberg, J. Dötsch, J. Altmüller, 2020, American journal of medical genetics. Part A.

216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15–17, 2016 Naarden, The Netherlands

Susan C. Brown, F. Muntoni, K. Mathews, 2016, Neuromuscular Disorders.

Validation of genetic modi fi ers for Duchenne muscular dystrophy : a multicentre study assessing SPP 1 and LTBP 4 variants

K. Bushby, F. Muntoni, S. Böhringer, 2014 .

Discovery of serum protein biomarkers in the mdx mouse model and cross-species comparison to Duchenne muscular dystrophy patients.

Kristy Brown, E. Hoffman, Y. Hathout, 2014, Human molecular genetics.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

S. Züchner, B. Dan, P. van Damme, 2014, neurogenetics.

Molecular autopsy in maternal–fetal medicine

F. Alkuraya, E. Faqeih, T. Ben-Omran, 2017, Genetics in Medicine.

Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia

L. Cif, P. Coubes, C. Béroud, 2018, Journal of the Neurological Sciences.

Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.

K. Bushby, F. Muntoni, K. Anthony, 2011, Brain : a journal of neurology.

On the differential diagnosis of neuropathy in neurogenetic disorders

A. Koy, S. Çırak, U. Yiş, 2020, Medizinische Genetik.

Universitet Low-frequency variation in TP 53 has large effects on head circumference and intracranial

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2019 .

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2018, bioRxiv.

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Shane A. McCarthy, Richard D Emes, Klaudia Walter, 2017, Nature Communications.

Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy

C. Bönnemann, P. Nürnberg, G. Privé, 2010, Brain : a journal of neurology.

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

E. Hoffman, A. Pestronk, R. Abresch, 2020, European Journal of Human Genetics.

Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern.

G. Matthijs, R. Wevers, S. Wortmann, 2011, Biochimica et biophysica acta.

SEPN1-related myopathies

M. Main, M. Pane, E. Mercuri, 2011, Neurology.

A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy

S. Çırak, H. Ehrhardt, A. Hahn, 2018, Acta Neuropathologica Communications.

The genomic and clinical landscape of fetal akinesia

M. Cossée, R. Heller, A. Koy, 2019, Genetics in Medicine.

Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome

A. Franke, S. May, S. Çırak, 2010, Pediatric Nephrology.

Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy.

P. Korkusuz, H. Topaloglu, S. Çırak, 2010, American journal of human genetics.

The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature.

A. Koy, S. Çırak, S. Shafiee, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Novel mutations in SLC6A5 with benign course in hyperekplexia

H. Thiele, S. Çırak, P. Herkenrath, 2019, Cold Spring Harbor molecular case studies.

Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia

P. Nürnberg, J. Altmüller, S. Çırak, 2018, Cold Spring Harbor molecular case studies.

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.

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2019, Nature Communications.

Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia

E. Hoffman, S. Çırak, T. Voit, 2016, Journal of Human Genetics.

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.

A. Hoischen, M. Huynen, Y. Wada, 2016, American journal of human genetics.

Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis

E. Aronica, P. Andersen, P. van Damme, 2019, Annals of clinical and translational neurology.

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies

H. van Bokhoven, S. Çırak, T. Voit, 2010, Neurology.

P.103 DMD genotypes and loss of ambulation in the CINRG Duchenne natural history study

E. Hoffman, L. Bello, S. Çırak, 2016, Neuromuscular Disorders.

Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA

E. Özer, S. Çırak, U. Yiş, 2017, Brain and Development.

Genotype-phenotype correlations in ocular manifestations of Marinesco–Sjögren syndrome: Case report and literature review

H. Per, S. Çırak, H. Jungbluth, 2021, European journal of ophthalmology.

A Kelch protein is mutated in a novel amosomal dominant distal myopathy

Tom H. Lindner, Sebahattin Cirak, F. von Deimling, 2005 .

Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation

H. Topaloglu, S. Çırak, B. Talim, 2017, Neuromuscular Disorders.

Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle

E. Hoffman, Y. Hathout, J. Jaiswal, 2017, Nature Communications.

Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle

E. Hoffman, Y. Hathout, J. Jaiswal, 2017, Nature Communications.

A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation

L. Weber, J. Dötsch, S. Çırak, 2018, Brain and Development.

Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature

M. Topcu, A. Koy, T. Coşkun, 2019, Human Genome Variation.

Cockroach allergens Per a 3 are oligomers.

S. Tenzer, E. Jaenicke, H. Decker, 2010, Developmental and comparative immunology.

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

B. Schlotter-Weigel, M. Blankenburg, P. Huppke, 2022, Orphanet Journal of Rare Diseases.

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.

F. Muntoni, C. Fauth, K. Rostásy, 2012, American journal of human genetics.

Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency.

G. Schwarz, S. Çırak, S. Waltz, 2019, Human molecular genetics.

F. Muntoni, A. Manzur, M. Farrugia, 2018, Neuromuscular Disorders.

F. Muntoni, A. Manzur, M. Farrugia, 2018 .

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

J. Chilton, R. Blakely, O. Abdul-Rahman, 2017, Brain : a journal of neurology.

220th ENMC workshop: Dystroglycan and the dystroglycanopathies Naarden, The Netherlands, 27–29 May 2016

Susan C. Brown, S. Winder, H. Bokhoven, 2017, Neuromuscular Disorders.

Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy

P. Nürnberg, J. Dötsch, J. Altmüller, 2018, Journal of Medical Genetics.

Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype

D. Birchall, K. Bushby, F. Muntoni, 2013, Neuromuscular Disorders.

The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification

B. Weschke, M. Seifert, A. Kaindl, 2020, Journal of Human Genetics.

PNPT1 mutations may cause Aicardi-Goutières-Syndrome

A. Koy, S. Çırak, P. Herkenrath, 2020, Brain and Development.

Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy

A. Brunn, M. Deckert, J. Weis, 2019, Acta Neuropathologica Communications.

Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene.

G. Fink, A. Brunn, J. Weis, 2018, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2018, bioRxiv.

Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy.

J. Dötsch, S. Çırak, P. Herkenrath, 2019, Neuropediatrics.

Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.

J. Winkler, B. Winner, B. Anlar, 2006, Neuropediatrics.

EPMA-World Congress 2015

N. V. Chirkova, Rostyslav V Bubnov, Y. Benjamini, 2016, EPMA Journal.

A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency

A. Koy, G. Schwarz, M. Liebau, 2021, Journal of inherited metabolic disease.

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Tom R. Gaunt, Klaudia Walter, Nicholas J Timpson, 2015, Nature Communications.

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

F. Baas, E. Mercuri, F. Muntoni, 2019 .

Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

F. Muntoni, M. Scoto, A. Manzur, 2013, Neuromuscular Disorders.

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

J. Bourke, K. Bushby, F. Muntoni, 2011, The Lancet.

Dystromirs as Serum Biomarkers for Monitoring the Disease Severity in Duchenne Muscular Dystrophy

K. Bushby, F. Muntoni, A. Ferlini, 2013, PloS one.

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

D. MacArthur, M. Hurles, A. Hoischen, 2013, American journal of human genetics.

Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey

E. Özer, S. Çırak, E. Bayram, 2018, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

M. Bahlo, H. Goebel, L. Kalaydjieva, 2015, Neuromuscular Disorders.

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.

B. Wirth, R. Heller, K. Girisha, 2016, American Journal of Human Genetics.

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

M. Hurles, F. Muntoni, J. Stalker, 2013, Cell reports.

Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia

M. Kloss, K. Kiening, A. Koy, 2019, Journal of Human Genetics.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

Characterisation and Validation of Insertions and Deletions in 173 Patient Exomes

J. Hardy, M. Hubank, E. Stupka, 2012, PloS one.

UK 10 K Consortium

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2019 .

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2018, American journal of human genetics.

Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies

F. Muntoni, D. Stemple, S. Çırak, 2011, Neuromuscular Disorders.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Shane A. McCarthy, R. Durbin, Klaudia Walter, 2016, Nature Communications.

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.

M. Scott, J. Axelrod, A. Bassuk, 2008, American journal of human genetics.

Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights

S. Yılmaz, A. Engel, B. Anlar, 2017, Journal of child neurology.

Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.

E. Hoffman, S. Çırak, S. Monges, 2015, Pediatric neurology.

Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower

E. Hoffman, S. Çırak, S. Monges, 2015 .

Development of end-stage renal disease at a young age in two cases with Joubert syndrome.

S. Çırak, G. Uyanik, F. Sönmez, 2014, The Turkish journal of pediatrics.

Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis

J. Dötsch, S. Çırak, P. Herkenrath, 2016, Molecular and Cellular Pediatrics.

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking

H. Per, H. Galehdari, S. Efthymiou, 2019, Front. Neurosci..

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

Francesco Muntoni, Alessandra Ferlini, Stefan Böhringer, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

E. Hoffman, A. Pestronk, R. Abresch, 2020, European Journal of Human Genetics.

Muscle regulates mTOR dependent axonal local translation in motor neurons via CTRP3 secretion: implications for a neuromuscular disorder, spinal muscular atrophy

B. Wirth, M. Kye, M. Krüger, 2019, Acta Neuropathologica Communications.

Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy.

F. Muntoni, K. Anthony, V. Arechavala-Gomeza, 2012, Molecular therapy : the journal of the American Society of Gene Therapy.

Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia.

S. Çırak, U. Yiş, D. Okur, 2019, The Turkish journal of pediatrics.

Mutations in FKBP 14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis , Myopathy , and Hearing Loss

F. Muntoni, C. Fauth, K. Rostásy, 2022 .

P01 Current progress with the systemic administration trial of AVI-4658, a novel Phosphorodiamidate Morpholino Oligomer (PMO) skipping dystrophin exon 51 in Duchenne muscular dystrophy (DMD)

F. Muntoni, K. Bushby, S. Çırak, 2010, Neuromuscular Disorders.

Acanthocytosis and HyperCKemia

S. Çırak, U. Yiş, K. Becker, 2017, Turkish journal of haematology : official journal of Turkish Society of Haematology.

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

F. Muntoni, N. Laing, V. Dubowitz, 2012, Neuromuscular Disorders.

Exon skipping quantification by quantitative reverse-transcription polymerase chain reaction in Duchenne muscular dystrophy patients treated with the antisense oligomer eteplirsen.

K. Bushby, F. Muntoni, K. Anthony, 2012, Human gene therapy methods.

Shorter Phosphorodiamidate Morpholino Splice-Switching Oligonucleotides May Increase Exon-Skipping Efficacy in DMD

T. Partridge, S. Çırak, K. Becker, 2018, Molecular therapy. Nucleic acids.

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.

M. Hurles, C. Walsh, F. Muntoni, 2013, American journal of human genetics.

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

M. Hurles, F. Muntoni, K. Campbell, 2013, Brain : a journal of neurology.

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

Francesco Muntoni, Jim Stalker, Rahul Phadke, 2013, JAMA neurology.

Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies

E. Bertini, F. Pontén, M. Uhlén, 2014, EMBO molecular medicine.

Vibration-Assisted Home Training Program for Children With Spinal Muscular Atrophy

C. Stark, E. Schoenau, S. Çırak, 2018, Child neurology open.

Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2.

S. Çırak, S. Işıkay, G. Diniz, 2017, The Turkish journal of pediatrics.

Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies

S. Çırak, U. Yiş, M. Karakaya, 2016, BioMed research international.

M. Main, M. Pane, E. Mercuri, 2011, Neuromuscular Disorders.

Transgenic Overexpression of LARGE Induces α-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle

Susan C. Brown, F. Muntoni, D. Wells, 2010, PloS one.

Making sense of missense variants in TTN-related congenital myopathies

F. Muntoni, M. Gautel, I. Richard, 2021, Acta Neuropathologica.

Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations.

R. Lewis, B. Bejjani, C. Mardin, 2006, Molecular vision.

Development of NMD Gene Chips for the complete DNA diagnosis of Inherited Neuromuscular Disorders

Francesco Muntoni, Shu Yau, Sebahattin Cirak, 2010 .

Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy.

A. Couteur, H. McConachie, K. Bushby, 2013, Child: care, health and development.

Use of whole exome sequencing in the NICU: Case of an extremely low birth weight infant with syndromic features.

A. Oberthuer, R. Heller, S. Çırak, 2019, Molecular and cellular probes.

Stepwise ABC system for classification of any type of genetic variant

N. de Leeuw, J. D. den Dunnen, H. Scheffer, 2021, European Journal of Human Genetics.

An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures

J. Lupski, S. Berkovic, A. Mégarbané, 2005, Neurology.

Heterogeneity of Marinesco-Sjögren syndrome: report of two cases.

S. Çırak, U. Yiş, E. Dirik, 2011, Pediatric neurology.

Clinical, electrophysiological and genetic characteristics of childhood hereditary polyneuropathies.

B. Wirth, A. Jordanova, S. Çırak, 2020, Revue neurologique.

Genomic profiling in neuronal dyneinopathies and updated classifications

S. Çırak, M. von der Hagen, L. Becker, 2021, American journal of medical genetics. Part A.

Genotype–phenotype correlation in seven motor neuron disease families with novel ALS2 mutations

F. Muntoni, P. Nürnberg, H. Topaloglu, 2020, American journal of medical genetics. Part A.

Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects

P. Nürnberg, H. Topaloglu, S. Çırak, 2016, Journal of Human Genetics.

Mutation in CEP135 causing primary microcephaly and subcortical heterotopia

P. Nürnberg, S. Çırak, A. Hahn, 2020, American journal of medical genetics. Part A.

Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair

J. Gleeson, I. Ahel, K. Caldecott, 2020, Nature Communications.

Neuromuscular endplate pathology in recessive desminopathies

A. Franke, U. Schlötzer-Schrehardt, Y. Parman, 2016, Neurology.

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

G. Pesole, E. Bertini, K. Bushby, 2016, Journal of Cell Science.

Clinical and genetic characterization of PYROXD1‐related myopathy patients from Turkey

P. Nürnberg, J. Altmüller, H. Thiele, 2021, American journal of medical genetics. Part A.

Pitfall of identifying a disease locus by using low-resolution SNP arrays

S. Çırak, H. Gundesli, P. Dinçer, 2011, Journal of molecular and genetic medicine : an international journal of biomedical research.

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

F. Muntoni, T. Jacques, M. Scoto, 2013, European Journal of Human Genetics.

A cross section of autosomal recessive hereditary spastic paraplegias

Juergen Winkler, Ute Hehr, Sebahattin Cirak, 2005 .

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

S. Züchner, B. Dan, Y. Parman, 2014, neurogenetics.

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family

S. Baig, P. Nürnberg, J. Altmüller, 2021, Genes.

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

M. Hurles, F. Muntoni, J. Stalker, 2013, Cell Reports.

Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.

S. Krause, S. Çırak, T. Voit, 2006, Biochemistry.

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: Less severe mutations predominate in patients with a non-Walker-Warburg phenotype

F. Muntoni, E. Özer, S. Çırak, 2011, Neuromuscular Disorders.

Insights from genotype–phenotype correlations by novel SPEG mutations causing centronuclear myopathy

E. Bertini, H. Per, J. Bevilacqua, 2017, Neuromuscular Disorders.

A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy

S. Çırak, H. Ehrhardt, A. Hahn, 2018, Acta neuropathologica communications.

Muscle regulates mTOR dependent axonal local translation in motor neurons via CTRP3 secretion: implications for a neuromuscular disorder, spinal muscular atrophy

B. Wirth, M. Kye, M. Krüger, 2019, Acta Neuropathologica Communications.

Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany

A. Blaschek, A. von Moers, I. Brockow, 2022, Journal of neuromuscular diseases.

Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone

R. Heller, P. Nürnberg, K. Zimmer, 2016, Neuropediatrics.

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

I. Graham, F. Muntoni, P. Nihoyannopoulos, 2009, The Lancet. Neurology.

The UK10K project identifies rare variants in health and disease

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2015, Nature.

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study.

K. Bushby, F. Muntoni, K. Anthony, 2011, Lancet.

Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development

P. Landgraf, A. Koy, M. Liebau, 2018, Neuropediatrics.

Genotype–phenotype correlation and treatment effects in young patients with GNAO1-associated disorders

A. Koy, S. Çırak, K. Brockmann, 2023, Journal of neurology, neurosurgery, and psychiatry.

C.O.4 Congenital muscular dystrophy with adducted thumbs, mental retardation, cerebellar hypoplasia and cataracts is caused by mutation of Enaptin (Nesprin-1): The third nuclear envelopathy with muscular dystrophy

J. Schroeder, F. Muntoni, A. Noegel, 2007, Neuromuscular Disorders.

Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia

M. Kloss, K. Kiening, A. Koy, 2019, Journal of Human Genetics.

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

D. MacArthur, M. Hurles, A. Hoischen, 2013, American journal of human genetics.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2021, American journal of human genetics.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2018, American journal of human genetics.

Discovery of serum protein biomarkers in the mdx mouse model and cross-species comparison to Duchenne muscular dystrophy patients.

E. Hoffman, Y. Hathout, L. Bello, 2014, Human molecular genetics.

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

S. Çırak, H. Jungbluth, C. Sewry, 2012, Neuromuscular Disorders.

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

V. Arechavala-Gomeza, S. Çırak, M. Guglieri, 2011, The Lancet.

Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy.

A. Couteur, H. McConachie, K. Bushby, 2013, Child: care, health and development.

Exon skipping quantification by quantitative reverse-transcription polymerase chain reaction in Duchenne muscular dystrophy patients treated with the antisense oligomer eteplirsen.

K. Bushby, F. Muntoni, K. Anthony, 2012, Human gene therapy methods.

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

I. Graham, K. Bushby, L. Popplewell, 2009, The Lancet Neurology.

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2015, Nature Communications.

Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

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S. Çırak, T. Voit, T. Willer, 2010, Neurology.