D. Selcen

发表

G.P.11.11 Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients

K. Ohno, M. Milone, A. Engel, 2009, Neuromuscular Disorders.

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

Kinji Ohno, Andrew G Engel, K. Ohno, 2002, American journal of human genetics.

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

A. Masuda, K. Ohno, A. Engel, 2016, Journal of Human Genetics.

Are MuSK antibodies the primary cause of myasthenic symptoms?

A. Engel, D. Selcen, Xin-Ming Shen, 2004, Neurology.

The Z-disk diseases.

O. Carpén, D. Selcen, 2008, Advances in experimental medicine and biology.

Myofibrillar myopathy caused by novel dominant negative αB‐crystallin mutations

A. Engel, D. Selcen, 2003 .

Myasthenic syndrome caused by plectinopathy

K. Ohno, A. Engel, L. Hobson‐Webb, 2011, Neurology.

Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4‐diaminopyridine

Jeffrey A. Cohen, M. Benatar, R. Lewis, 2016, Muscle & nerve.

Dok‐7 myasthenia: Phenotypic and molecular genetic studies in 16 patients

E. Wieben, M. Milone, A. Engel, 2008, Annals of neurology.

Sporadic late onset nemaline myopathy

A. Engel, N. Chahin, D. Selcen, 2005, Neurology.

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

F. Muntoni, B. Burton, A. Engel, 2008, Annals of neurology.

Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype.

M. Brodsky, Mai‐Lan Ho, R. Gavrilova, 2018, Seminars in pediatric neurology.

The unfolding landscape of the congenital myasthenic syndromes

A. Engel, D. Selcen, Xin-Ming Shen, 2018, Annals of the New York Academy of Sciences.

Myofibrillar myopathies

D. Selcen, 2011, Neuromuscular Disorders.

Myofibrillar myopathies.

A. Engel, D. Selcen, 2011, Handbook of clinical neurology.

205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies Part II 28–30 March 2014, Naarden, The Netherlands

A. Mammen, F. Mastaglia, E. Aronica, 2015, Neuromuscular Disorders.

Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac Transplantation

A. Engel, N. Pereira, Jonathan N. Johnson, 2021, Neurology.

PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome

A. Engel, J. Creemers, D. Selcen, 2014, Neurology.

Familial cardioneuromyopathy with hyaline masses and nemaline rods: A novel phenotype

A. Engel, B. R. Krueger, D. Selcen, 2002, Annals of neurology.

Further Observations in Congenital Myasthenic Syndromes

S. Sine, A. Engel, D. Selcen, 2008, Annals of the New York Academy of Sciences.

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases

Michael T. Zimmermann, M. Zimmermann, Z. Niu, 2017, Cold Spring Harbor molecular case studies.

Microvascular alterations and the role of complement in dermatomyositis.

A. Engel, D. Selcen, R. Lahoria, 2016, Brain : a journal of neurology.

The earliest pathologic alterations in dysferlinopathy

A. Engel, D. Selcen, G. Stilling, 2001, Neurology.

246th ENMC International Workshop: Protein aggregate myopathies 24–26 May 2019, Hoofddorp, The Netherlands

R. Bryson-Richardson, K. Claeys, H. Goebel, 2020, Neuromuscular Disorders.

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Carol J. Saunders, E. Zackai, G. Cooper, 2020, European Journal of Human Genetics.

Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations.

A. Engel, D. Selcen, 2003, Annals of neurology.

BAG3 mutations: another cause of giant axonal neuropathy

F. Muntoni, S. Brandner, M. Reilly, 2012, Journal of the peripheral nervous system : JPNS.

Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy

M. Bromberg, S. Chin, A. Engel, 2011, Neurology.

Myofibrillar myopathy with limb-girdle phenotype in a Thai patient.

T. Liewluck, K. Kulkantrakorn, D. Selcen, 2009, Journal of the Medical Association of Thailand = Chotmaihet thangphaet.

Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.

K. Ohno, A. Engel, D. Selcen, 2004, Brain : a journal of neurology.

A 49-year-old woman with progressive shortness of breath

A. Amato, D. Selcen, B. M. Keegan, 2011, Neurology.

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

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

P.444 Congenital myopathy associated with the Triadin knockout syndrome

D. Tester, M. Ackerman, A. Engel, 2017, Neuromuscular Disorders.

A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies

P. Korkusuz, E. Tan, B. Talim, 2013, Journal of Medical Genetics.

Multiple sclerosis in childhood: report of 16 cases.

B. Anlar, D. Selcen, Y. Renda, 1996, European neurology.

Sleep and Breathing After Nusinersen Therapy in a Child With Spinal Muscular Atrophy.

I. Kouri, S. Kotagal, D. Selcen, 2020, Journal of clinical neuromuscular disease.

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.

S. Sine, A. Engel, D. Selcen, 2015, The Lancet. Neurology.

Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy

G. Ravenscroft, N. Laing, K. Yau, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia

M. Milone, A. Engel, D. Selcen, 2016, Neurology: Genetics.

Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy

K. Claeys, P. Jeannet, A. Béhin, 2009, Neuromuscular Disorders.

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

K. Ohno, A. Engel, B. Ohkawara, 2015, JAMA neurology.

Eosinophilic fasciitis with subjacent myositis

D. Rubin, D. Selcen, E. Dimberg, 2017, Muscle & nerve.

Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants

M. Milone, P. Dyck, D. Selcen, 2016, Neuromuscular Disorders.

Otocerebral anomalies associated with topical tretinoin use

M. Nigro, D. Selcen, S. Seidman, 2000, Brain and Development.

Determinants of the repetitive-CMAP occurrence and therapy efficacy in slow-channel myasthenia

A. Engel, D. Selcen, Xin-Ming Shen, 2020, Neurology.

Mucormycosis in a diabetic child and its treatment with fluconazole: a case report.

S. Aysun, G. Kanra, M. Ceyhan, 1995, The Turkish journal of pediatrics.

A novel fast-channel myasthenia caused by mutation in β subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gating

S. Sine, A. Engel, A. Neumeyer, 2020, Experimental Neurology.

Slow‐channel myasthenia due to novel mutation in M2 domain of AChR delta subunit

B. Banwell, S. Sine, M. Milone, 2019, Annals of clinical and translational neurology.

Severe congenital actin related myopathy with myofibrillar myopathy features

D. Selcen, 2015, Neuromuscular Disorders.

DPAGT1 myasthenia and myopathy

Y. Li, E. Wieben, A. Engel, 2014, Neurology.

GFPT1-myasthenia

R. Finkel, K. Ohno, M. Milone, 2013, Neurology.

Infantile muscular dystrophy in Canadian aboriginals is an αB‐crystallinopathy

M. D. Del Bigio, C. Campbell, A. Chudley, 2011, Annals of neurology.

Mutations in ZASP define a novel form of muscular dystrophy in humans

Andrew G Engel, A. Engel, D. Selcen, 2005, Annals of neurology.

Mutations in myotilin cause myofibrillar myopathy

Andrew G Engel, A. Engel, D. Selcen, 2004, Neurology.

Proteomic profiling of sporadic late‐onset nemaline myopathy

S. Dasari, T. Kourelis, M. Mauermann, 2022, Annals of clinical and translational neurology.

Safety and yield of muscle biopsy in pediatric patients in the modern era.

D. Selcen, W. Gibreel, Abdalla E. Zarroug, 2014, Journal of Pediatric Surgery.

G.O.3 Severe congenital actin related myofibrillar myopathy

D. Selcen, 2014, Neuromuscular Disorders.

Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies

R. Griggs, P. Narayanaswami, G. Gronseth, 2014, Neurology.

A rare case of congenital myopathy with excess muscle spindles: expanding the clinical spectrum of HRAS-associated neuromuscular disease

Zheng Fan, Y. Shiloh-Malawsky, N. Chahin, 2015, Journal of Neurology.

Myopathy with muscle spindle excess: A new congenital neuromuscular syndrome?

W. Kupsky, D. Selcen, D. Benjamins, 2001, Muscle & nerve.

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review

K. Ohno, A. Engel, B. Ohkawara, 2023, International journal of molecular sciences.

Titinopathies: what happens when a big gene mutates in a big family?

K. Bushby, Kate Bushby, D. Selcen, 2005, Neurology.

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

S. Sine, A. Engel, D. Selcen, 2015, The Lancet Neurology.

Anesthesia and Duchenne or Becker muscular dystrophy: review of 117 anesthetic exposures

J. Sprung, T. Weingarten, D. Selcen, 2013, Paediatric anaesthesia.

Myasthenic syndrome due to defects in rapsyn

K. Ohno, M. Milone, A. Engel, 2009, Neurology.

Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies

R. Griggs, P. Narayanaswami, G. Gronseth, 2014, Neurology.

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1

P. Blackburn, J. Gass, E. Klee, 2018, Molecular genetics & genomic medicine.

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1

P. Blackburn, J. Gass, E. Klee, 2017, Molecular genetics & genomic medicine.

Zaspopathy in a large classic late-onset distal myopathy family.

R. Griggs, N. Laing, A. Engel, 2007, Brain : a journal of neurology.

Pediatric Nerve Biopsy Diagnostic and Treatment Utility in Tertiary Care Referral.

J. Bodensteiner, C. Ida, P. Dyck, 2016, Pediatric neurology.

Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1

Mai‐Lan Ho, E. Morava, E. Klee, 2020, JIMD reports.

Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner.

M. Tarnopolsky, K. Ohno, A. Engel, 2020, JCI insight.

Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok‐7 myasthenia

A. Engel, T. Liewluck, D. Selcen, 2011, Muscle & nerve.

New horizons for congenital myasthenic syndromes

S. Sine, A. Engel, D. Selcen, 2012, Annals of the New York Academy of Sciences.

Myofibrillar myopathies

D. Selcen, 2008, Current opinion in neurology.

Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient

P. Blackburn, J. Gass, D. Selcen, 2017, Journal of clinical neuromuscular disease.

Idiopathic Inflammatory Myopathy

E. Aronica, L. Yao, H. Goebel, 2020, Definitions.

High-dose intravenous immunoglobulin therapy in juvenile myasthenia gravis.

A. Michon, E. Dabrowski, M. Nigro, 2000, Pediatric neurology.

What Have We Learned from the Congenital Myasthenic Syndromes

S. Sine, A. Engel, D. Selcen, 2009, Journal of Molecular Neuroscience.

Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability

A. Engel, J. Brengman, D. Selcen, 2014, Neurology.

Impaired gating of γ‐ and ε‐AChR respectively causes Escobar syndrome and fast‐channel myasthenia

K. Ohno, A. Engel, S. Mizuno, 2023, Annals of clinical and translational neurology.

Congenital myasthenic syndromes in adult neurology clinic

M. Milone, A. Engel, T. Liewluck, 2018, Neurology.

Novel synaptobrevin‐1 mutation causes fatal congenital myasthenic syndrome

A. Engel, J. Brengman, L. Werneck, 2017, Annals of clinical and translational neurology.

A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission

M. Milone, A. Engel, T. Liewluck, 2019, Neuromuscular Disorders.

Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.

K. Ohno, A. Engel, D. Selcen, 2004, Brain : a journal of neurology.

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)

Tammy M. McAllister, V. Ramanan, L. Roberts, 2023, Journal of Translational Medicine.

Myofibrillar myopathies

D. Selcen, 2008, Current opinion in neurology.

144 – Congenital Myasthenic Syndromes

A. Engel, D. Selcen, 2017 .

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

M. Pericak-Vance, S. Züchner, J. Vance, 2004, Nature Genetics.

Idiopathic inflammatory myopathy

E. Aronica, H. Goebel, J. Holton, 2019, Neurology.

Dok‐7 myasthenia: Phenotypic and molecular genetic studies in 16 patients

E. Wieben, M. Milone, A. Engel, 2008, Annals of neurology.

Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok‐7 myasthenia

A. Engel, T. Liewluck, D. Selcen, 2011, Muscle & nerve.

BAG3 mutations: another cause of giant axonal neuropathy

F. Muntoni, S. Brandner, M. Reilly, 2012, Journal of the peripheral nervous system : JPNS.

Myofibrillar myopathies

D. Selcen, 2011, Neuromuscular Disorders.

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

A. Masuda, K. Ohno, A. Engel, 2016, Journal of Human Genetics.

A 46-year-old woman with severe weakness following acute respiratory distress syndrome

D. Selcen, A. Waclawik, B. Keegan, 2007, Neurology.

Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies

R. Griggs, P. Narayanaswami, G. Gronseth, 2014, Neurology.

Late Breaking Science Abstracts

L. Wilkins, D. Selcen, Andrew G. Engel, 2004, Neurology.

Microvascular alterations and the role of complement in dermatomyositis.

A. Engel, D. Selcen, Rajat Lahoria, 2016, Brain : a journal of neurology.

205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies Part II 28–30 March 2014, Naarden, The Netherlands

A. Mammen, F. Mastaglia, E. Aronica, 2015, Neuromuscular Disorders.

Safety and yield of muscle biopsy in pediatric patients in the modern era.

D. Selcen, W. Gibreel, Abdalla E. Zarroug, 2014, Journal of pediatric surgery.

PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome

A. Engel, J. Creemers, D. Selcen, 2014, Neurology.

SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts

D. Oglesbee, D. Selcen, Noemi Vidal-Folch, 2024, Frontiers in genetics.