S. Naidu

发表

Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype.

E. Hoffman, K. Hoffbuhr, L. Moses, 2002, Mental retardation and developmental disabilities research reviews.

In vivo quantitative proton MRSI study of brain development from childhood to adolescence

Peter B Barker, Alena Horská, Walter E Kaufmann, 2002, Journal of magnetic resonance imaging : JMRI.

Automated Talairach atlas-based parcellation and measurement of cerebral lobes in children

Allan L. Reiss, Wendy R. Kates, Ilana S. Warsofsky, 1999, Psychiatry Research: Neuroimaging.

Clinical whole exome sequencing in child neurology practice

Siddharth Srivastava, Hilary Vernon, Rebecca McClellan, 2014, Annals of neurology.

Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

P. Stankiewicz, Ankita Patel, J. Lupski, 2005, Journal of Medical Genetics.

Recent advances in understanding synaptic abnormalities in Rett syndrome

M. Johnston, S. Naidu, M. Blue, 2019 .

Correlation of the vesicular acetylcholine transporter densities in the striata to the clinical abilities of women with rett syndrome

Yun Zhou, John Hilton, James Robert Brašić, 2012, Synapse.

Ocular MECP2 protein expression in patients with and without Rett syndrome.

Deepali Jain, S. Naidu, C. Eberhart, 2010, Pediatric neurology.

White Matter Impairment in Rett Syndrome: Diffusion Tensor Imaging Study with Clinical Correlations

I. Izbudak, S. Mori, S. Naidu, 2010, American Journal of Neuroradiology.

Selective Cerebral Volume Reduction in Rett Syndrome: A Multiple-Approach MR Imaging Study

W. Kaufmann, D. Pham, S. Naidu, 2008, American Journal of Neuroradiology.

Olfactory biopsies demonstrate a defect in neuronal development in Rett's syndrome

E. Hoffman, K. Hoffbuhr, L. Moses, 2003, Annals of neurology.

Archetypal and new families with Alexander disease and novel mutations in GFAP.

J. Taylor, S. Naidu, A. Messing, 2012, Archives of neurology.

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

R. Pfundt, Adam Claridge‐Chang, B. Venkatesh, 2020, Nature Communications.

Splice‐site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes

S. Naidu, P. Rogan, E. Sistermans, 2006, Human mutation.

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Jonathan E. Dickerson, R. Schiffmann, J. Tolmie, 2012, Nature Genetics.

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

J. Lupski, S. Cheung, F. Zhang, 2020, Human mutation.

Loss-of-function variants in HIVEP2 are a cause of intellectual disability

T. Wieland, T. Strom, D. Wieczorek, 2015, European Journal of Human Genetics.

Expansion of the clinical spectrum associated with AARS2‐related disorders

D. Zee, E. Middlebrooks, S. Naidu, 2019, American journal of medical genetics. Part A.

Temporal and Regional Alterations in NMDA Receptor Expression in Mecp2‐Null Mice

W. Kaufmann, M. Johnston, S. Naidu, 2011, Anatomical record.

Mutation update for the SATB2 gene

Donna M. Martin, Marc S. Williams, E. Roeder, 2019, Human mutation.

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation

P. Grant, R. Scott, S. Naidu, 2018, Brain sciences.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

A. Vanderver, R. Schiffmann, D. Timmann, 2020, The Journal of clinical endocrinology and metabolism.

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

A. Vanderver, R. Schiffmann, C. Catsman-Berrevoets, 2014, Neurology.

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

A. Vanderver, B. Brais, C. Stevens, 2013, Journal of Medical Genetics.

CSF and Blood Levels of GFAP in Alexander Disease

F. Eichler, A. Vanderver, R. Schiffmann, 2015, eNeuro.

Disorders of the Nervous System CSF and Blood Levels of GFAP in Alexander Disease 1 , 2 , 3

Davide, Adeline, F. Eichler, 2022 .

Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype

S. Naidu, J. Crosson, J. Brenner, 2017, American journal of medical genetics. Part A.

Recent advances in understanding synaptic abnormalities in Rett syndrome [version 1; peer review: 2 approved]

M. Johnston, S. Naidu, M. Blue, 2022 .

Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants

S. Naidu, S. Srivastava, 2016, Pediatric neurology briefs.

Monogenic disorders that mimic the phenotype of Rett syndrome

A. Fatemi, S. Naidu, S. Srivastava, 2018, neurogenetics.

Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation

J. Trent, D. Stephan, E. Hoffman, 2004, Neurology.

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation

Res, P. Grant, R. Scott, 2018, Brain sciences.

De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features

Wendy K. Chung, W. Chung, M. Bekheirnia, 2016, Cold Spring Harbor molecular case studies.

In Vivo Measurement of Dopamine Receptors in Human Brain by Positron Emission Tomography Age and Sex Differences a

J. Links, A. Gjedde, D. Wong, 1988, Annals of the New York Academy of Sciences.

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

Ethan M. Goldberg, Carol J. Saunders, C. Saunders, 2017, JAMA neurology.

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.

M. Farrer, R. Person, S. Naidu, 2017, American journal of human genetics.

De novo KCNB1 mutations in epileptic encephalopathy

R. L. Bjork, A. Torkamani, S. Naidu, 2014, Annals of neurology.

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.

H. Zoghbi, U. Francke, S. Naidu, 1999, American journal of human genetics.

Natural History of Vanishing White Matter

H. D. de Vet, B. Uitdehaag, S. Naidu, 2018, Annals of neurology.

MeCP2 mutations in children with and without the phenotype of Rett syndrome

E. Hoffman, V. Narayanan, K. Hoffbuhr, 2001, Neurology.

Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28.

E. Hoffman, S. Naidu, N. Sirianni, 1998, American journal of human genetics.

Mutation update for the SATB 2 gene

Adeline, Marc S. Williams, E. Roeder, 2019 .

Mutation analysis of the M6b gene in patients with Rett syndrome.

H. Zoghbi, V. Narayanan, S. Naidu, 1998, American journal of medical genetics.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

J. Rosenfeld, R. Pfundt, M. Shaw, 2018, American journal of human genetics.

Guidelines for reporting clinical features in cases with MECP2 mutations

Masaya Segawa, Yushiro Yamashita, Uta Francke, 2001, Brain and Development.

Polysomnographic characteristics of patients with Rett syndrome.

C. Marcus, G. Loughlin, S. Naidu, 1994, The Journal of pediatrics.

Are dopamine receptor and transporter changes in Rett syndrome reflected in Mecp2-deficient mice?

James Robert Brašić, M. Johnston, A. Gjedde, 2018, Experimental Neurology.

Esophageal motility dysfunction in children with Rett Syndrome, gastroesophageal reflux, and dysphagia

S. Naidu, K. Koch, J. Fortunato, 2008 .

BRAT1 mutations present with a spectrum of clinical severity

Sharyn A. Lincoln, David T. Miller, J. Soul, 2016, American journal of medical genetics. Part A.

Abnormalities of the DNA Methylation Mark and Its Machinery: An Emerging Cause of Neurologic Dysfunction

S. Naidu, H. Bjornsson, Jacqueline Weissman, 2014, Seminars in Neurology.

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter

Rune R. Frants, Allerdien Visser, S. Naidu, 2001, Nature Genetics.

M. Reijnders, D. Segal, E. Wirrell, 2021, Neurology. Genetics.

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Juan I. Young, Rebecca C. Spillmann, S. Nelson, 2020, Genetics in Medicine.

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

J. Rosenfeld, Cheol‐Hee Kim, O. Hummel, 2019, Molecular Autism.

Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome.

B. Migeon, S. Naidu, B. Schmeckpeper, 1995, American journal of human genetics.

Cumulative Contents to Volume 38

V. S. Gupta, Japan., F. Pidcock, 2016, Brain and Development.

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

S. Naidu, M. S. van der Knaap, C. Oudejans, 2002, Annals of neurology.

Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H‐ABC)

A. Hamosh, S. Naidu, C. Ferreira, 2014, American journal of medical genetics. Part A.

S. Naidu, G. Scheper, C. Proud, 2003, American journal of human genetics.

Twenty-four hour quantitative-EEG and in-vivo glutamate biosensor detects activity and circadian rhythm dependent biomarkers of pathogenesis in Mecp2 null mice

M. Johnston, S. Naidu, S. Kadam, 2014, Front. Syst. Neurosci..

Gene Expression Profiling in Postmortem Rett Syndrome Brain: Differential Gene Expression and Patient Classification

Eric P. Hoffman, Jonathan Pevsner, Alex Chenchik, 2001, Neurobiology of Disease.

Enhanced cell death in MeCP2 null cerebellar granule neurons exposed to excitotoxicity and hypoxia

M. Johnston, S. Naidu, M. Blue, 2007, Neuroscience.

Histone modifications in Rett syndrome lymphocytes: a preliminary evaluation

W. Kaufmann, S. Naidu, G. Bibat, 2005, Brain and Development.

Bone Mass in Rett Syndrome: Association With Clinical Parameters and MECP2 Mutations

M. Johnston, S. Naidu, M. Blue, 2010, Pediatric Research.

Megalencephalic Leukoencephalopathy With Subcortical Cysts

S. Naidu, B. Singhal, J. Gorospe, 2003, Journal of child neurology.

Splice site, frameshift, and chimeric GFAP mutations in Alexander disease

S. Naidu, J. Goldman, A. Messing, 2012, Human mutation.

Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease

B. Banwell, S. Naidu, R. Weller, 2005, Annals of neurology.

Syddansk Universitet Are dopamine receptor and transporter changes in Rett syndrome reflected in Mecp 2-deficient mice ?

James Robert Brašić, A. Gjedde, D. Wong, 2018 .

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

A. Vanderver, R. Schiffmann, R. Taft, 2014, Brain : a journal of neurology.

The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27.

S. Naidu, M. Knaap, L. Sandkuijl, 1999, American journal of human genetics.

Update on Leukodystrophies: A Historical Perspective and Adapted Definition

A. Vanderver, R. Schiffmann, S. Naidu, 2016, Neuropediatrics.

Functional outcomes in Rett syndrome

F. Pidcock, S. Naidu, G. Bibat, 2016, Brain and Development.

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

L. Lagae, A. Vanderver, R. Schiffmann, 2016, Nature Genetics.

TO JMG Deletion 9 q 34 . 3 syndrome : genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

P. Stankiewicz, J. Lupski, S. Cheung, 2005 .

Heightened Delta Power during Slow-Wave-Sleep in Patients with Rett Syndrome Associated with Poor Sleep Efficiency

Joshua B. Ewen, M. Johnston, C. Marcus, 2015, PloS one.

Neurobiology of Rett syndrome: a genetic disorder of synapse development

M. Johnston, S. Naidu, J. Pevsner, 2001, Brain and Development.

Social impairments in Rett syndrome: characteristics and relationship with clinical severity.

W. Kaufmann, S. Naidu, D. Lanham, 2012, Journal of intellectual disability research : JIDR.

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C

A. Vanderver, I. Thiffault, B. Brais, 2023, Journal of Medical Genetics.

Brain metabolism in rett syndrome: Age, clinical, and genotype correlations

W. Kaufmann, P. Barker, S. Naidu, 2009, Annals of neurology.

Altered Development of Glutamate and GABA Receptors in the Basal Ganglia of Girls with Rett Syndrome

M. Johnston, S. Naidu, M. Blue, 1999, Experimental Neurology.

Mutations in FARS2 and non‐fatal mitochondrial dysfunction in two siblings

S. Naidu, D. Batista, H. Vernon, 2015, American journal of medical genetics. Part A.

Cystic leukoencephalopathy without megalencephaly

E. Bertini, S. Naidu, D. Rodriguez, 2005, Neurology.

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

H. J. Schelhaas, S. Naidu, E. Gardella, 2024, Epilepsia.

Open Peer Review Recent Advances in Understanding Synaptic Abnormalities in Rett Syndrome [version 1; Referees: 2 Approved]

M. Johnston, S. Naidu, M. Blue, 2022 .