Research Output 1978 2017

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Article
2017
Rett Syndrome
Genotype
Mutation
Electrocardiography
Sudden Death

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

Lehman, A., Thouta, S., Mancini, G. M. S., Naidu, S., van Slegtenhorst, M., McWalter, K., Person, R., Mwenifumbo, J., Salvarinova, R., Guella, I., McKenzie, M. B., Datta, A., Connolly, M. B., Kalkhoran, S. M., Poburko, D., Friedman, J. M., Farrer, M. J., Demos, M., Desai, S. & Claydon, T. 2017 In : American Journal of Human Genetics.

Research output: Contribution to journalArticle

Exome
Potassium Channels
Missense Mutation
Intellectual Disability
Anura
2016

BRAT1 mutations present with a spectrum of clinical severity

Srivastava, S., Olson, H. E., Cohen, J. S., Gubbels, C. S., Lincoln, S., Davis, B. T., Shahmirzadi, L., Gupta, S., Picker, J., Yu, T. W., Miller, D. T., Soul, J. S., Poretti, A. & Naidu, S. 2016 In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Mutation
Epilepsy
Seizures
Apraxias
Microcephaly

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

Srivastava, S., Engels, H., Schanze, I., Cremer, K., Wieland, T., Menzel, M., Schubach, M., Biskup, S., Krei, M., Endele, S., Strom, T. M., Wieczorek, D., Zenker, M., Gupta, S., Cohen, J., Zink, A. M. & Naidu, S. Apr 1 2016 In : European Journal of Human Genetics. 24, 4, p. 556-561 6 p.

Research output: Contribution to journalArticle

Intellectual Disability
Exome
Brain
Genes
Haploinsufficiency

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

Jenkinson, E. M. , Rodero, M. P. , Kasher, P. R. , Uggenti, C. , Oojageer, A. , Goosey, L. C. , Rose, Y. , Kershaw, C. J. , Urquhart, J. E. , Williams, S. G. , Bhaskar, S. S. , O'Sullivan, J. , Baerlocher, G. M. , Haubitz, M. , Aubert, G. , Barañano, K. W. , Barnicoat, A. J. , Battini, R. , Berger, A. , Blair, E. M. & 46 others Brunstrom-Hernandez, J. E., Buckard, J. A., Cassiman, D. M., Caumes, R., Cordelli, D. M., De Waele, L. M., Fay, A. J., Ferreira, P., Fletcher, N. A., Fryer, A. E., Goel, H., Hemingway, C. A., Henneke, M., Hughes, I., Jefferson, R. J., Kumar, R., Lagae, L., Landrieu, P. G., Lourenço, C. M., Malpas, T. J., Mehta, S. G., Metz, I., Naidu, S., Õunap, K., Panzer, A., Prabhakar, P., Quaghebeur, G., Schiffmann, R., Sherr, E. H., Sinnathuray, K. R., Soh, C., Stewart, H. S., Stone, J., Van Esch, H., Van Mol, C. E. G., Vanderver, A., Wakeling, E. L., Whitney, A., Pavitt, G. D., Griffiths-Jones, S., Rice, G. I., Revy, P., Van Der Knaap, M. S., Livingston, J. H., O'Keefe, R. T. & Crow, Y. J. Oct 1 2016 In : Nature Genetics. 48, 10, p. 1185-1192 8 p.

Research output: Contribution to journalArticle

Cerebral Small Vessel Diseases
Small Nucleolar RNA
Leukoencephalopathies
Ribosomes
Cysts

Update on Leukodystrophies: A Historical Perspective and Adapted Definition

Kevelam, S. H., Steenweg, M. E., Srivastava, S., Helman, G., Naidu, S., Schiffmann, R., Blaser, S., Vanderver, A., Wolf, N. I. & van der Knaap, M. S. Jul 13 2016 In : Neuropediatrics.

Research output: Contribution to journalArticle

Myelin Sheath
Genes
Exome
Housekeeping
Genetic Linkage
2015

Functional outcomes in Rett syndrome

Pidcock, F. S., Salorio, C., Bibat, G., Swain, J., Scheller, J., Shore, W. & Naidu, S. B. May 12 2015 In : Brain and Development.

Research output: Contribution to journalArticle

Rett Syndrome
Mutation
Self Care
Methyl-CpG-Binding Protein 2
Physical Therapists

Heightened delta power during slow-wave- sleep in patients with rett syndrome associated with poor sleep efficiency

Ammanuel, S., Chan, W. C., Adler, D. A., Lakshamanan, B. M., Gupta, S. S., Ewen, J. B., Johnston, M. V., Marcus, C. L., Naidu, S. & Kadam, S. D. Oct 7 2015 In : PLoS One. 10, 10, e0138113

Research output: Contribution to journalArticle

Rett Syndrome
Sleep
Power (Psychology)
sleep
Electroencephalography

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

Vernon, H. J., Mcclellan, R., Batista, D. A. & Naidu, S. May 1 2015 In : American Journal of Medical Genetics, Part A. 167, 5, p. 1147-1151 5 p.

Research output: Contribution to journalArticle

Mitochondrial Diseases
Siblings
Mutation
Exons
Phenylalanine-tRNA Ligase
2014

Abnormalities of the DNA methylation mark and its machinery: An emerging cause of neurologic dysfunction

Weissman, J., Naidu, S. & Bjornsson, H. T. Jul 1 2014 In : Seminars in Neurology. 34, 3, p. 249-257 9 p.

Research output: Contribution to journalArticle

DNA Methylation
Neurologic Manifestations
Epigenomics
Methyltransferases
Topoisomerase Inhibitors

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

Wolf, N. I. , Vanderver, A. , Van Spaendonk, R. M. L. , Schiffmann, R. , Brais, B. , Bugiani, M. , Sistermans, E. , Catsman-Berrevoets, C. , Kros, J. M. , Pinto, P. S. , Pohl, D. , Tirupathi, S. , Strømme, P. , De Grauw, T. , Fribourg, S. , Demos, M. , Pizzino, A. , Naidu, S. , Guerrero, K. , Van Der Knaap, M. S. & 1 others Bernard, G. Nov 1 2014 In : Neurology. 83, 21, p. 1898-1905 8 p.

Research output: Contribution to journalArticle

Mutation
Tooth
Myoclonic Cerebellar Dyssynergia
Anodontia
Ventral Thalamic Nuclei

Clinical whole exome sequencing in child neurology practice

Srivastava, S., Cohen, J. S., Vernon, H., Barañano, K., McClellan, R., Jamal, L., Naidu, S. & Fatemi, A. Oct 1 2014 In : Annals of Neurology. 76, 4, p. 473-483 11 p.

Research output: Contribution to journalArticle

Exome
Neurology
Pediatrics
Inheritance Patterns
Pervasive Child Development Disorders

De novo KCNB1 mutations in epileptic encephalopathy

Torkamani, A., Bersell, K., Jorge, B. S., Bjork, R. L., Friedman, J. R., Bloss, C. S., Cohen, J., Gupta, S., Naidu, S., Vanoye, C. G., George, A. L. & Kearney, J. A. Oct 1 2014 In : Annals of Neurology. 76, 4, p. 529-540 12 p.

Research output: Contribution to journalArticle

Mutation
Exome
Missense Mutation
Voltage-Gated Potassium Channels
Autistic Disorder

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

Hamilton, E. M., Polder, E., Vanderver, A., Naidu, S., Schiffmann, R., Fisher, K., Raguž, A. B., Blumkin, L., Van Berkel, C. G. M., Waisfisz, Q., Simons, C., Taft, R. J., Abbink, T. E. M., Wolf, N. I. & Van Der Knaap, M. S. 2014 In : Brain. 137, 7, p. 1921-1930 10 p.

Research output: Contribution to journalArticle

Genetic Association Studies
Basal Ganglia
Cerebellum
Atrophy
Phenotype
Basal Ganglia
Neuroimaging
Cerebellum
Atrophy
Phenotype
Methyl-CpG-Binding Protein 2
Biosensing Techniques
Circadian Rhythm
Glutamic Acid
Electroencephalography
2013

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

Daoud, H., Tétreault, M., Gibson, W., Guerrero, K., Cohen, A., Gburek-Augustat, J., Synofzik, M., Brais, B., Stevens, C. A., Sanchez-Carpintero, R., Goizet, C., Naidu, S., Vanderver, A. & Bernard, G. 2013 In : Journal of Medical Genetics. 50, 3, p. 194-197 4 p.

Research output: Contribution to journalArticle

Tooth Abnormalities
Hypogonadism
Mutation
Exons
Genes

Rett syndrome and epilepsy: An update for child neurologists

Dolce, A., Ben-Zeev, B., Naidu, S. & Kossoff, E. H. May 2013 In : Pediatric Neurology. 48, 5, p. 337-345 9 p.

Research output: Contribution to journalArticle

Rett Syndrome
Epilepsy
Seizures
Ketogenic Diet
Vagus Nerve Stimulation
2012

Adrenoleukodystrophy in female heterozygotes: Underrecognized and undertreated

Jangouk, P., Zackowski, K. M., Naidu, S. & Raymond, G. V. Feb 2012 In : Molecular Genetics and Metabolism. 105, 2, p. 180-185 6 p.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Heterozygote
Neuroimaging
Talus
Phenotype

Advances in the diagnosis of leukoencephalopathies

Naidu, S. & Lin, D. D. M. Jul 2012 In : Expert Opinion on Medical Diagnostics. 6, 4, p. 259-273 15 p.

Research output: Contribution to journalArticle

Adenofibroma
Imaging techniques
Leukoencephalopathies
Supravalvular Aortic Stenosis
Immunologic Cytotoxicity

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

Messing, A., Li, R., Naidu, S., Taylor, J. P., Silverman, L., Flint, D., Van Der Knaap, M. S. & Brenner, M. Feb 2012 In : Archives of Neurology. 69, 2, p. 208-214 7 p.

Research output: Contribution to journalArticle

Alexander Disease
Mutation
Onset
Siblings
Phenotype

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

Brašić, J. R., Bibat, G., Kumar, A., Zhou, Y., Hilton, J., Yablonski, M. E., Dogan, A. S., Guevara, M. R., Stephane, M., Johnston, M., Wong, D. F. & Naidu, S. Jun 2012 In : Synapse. 66, 6, p. 471-482 12 p.

Research output: Contribution to journalArticle

Vesicular Acetylcholine Transport Proteins
Rett Syndrome
Activities of Daily Living
Binding Sites
Corpus Striatum

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

Anderson, B. H. , Kasher, P. R. , Mayer, J. , Szynkiewicz, M. , Jenkinson, E. M. , Bhaskar, S. S. , Urquhart, J. E. , Daly, S. B. , Dickerson, J. E. , O'Sullivan, J. , Leibundgut, E. O. , Muter, J. , Abdel-Salem, G. M. H. , Babul-Hirji, R. , Baxter, P. , Berger, A. , Bonafé, L. , Brunstom-Hernandez, J. E. , Buckard, J. A. , Chitayat, D. & 44 others Chong, W. K., Cordelli, D. M., Ferreira, P., Fluss, J., Forrest, E. H., Franzoni, E., Garone, C., Hammans, S. R., Houge, G., Hughes, I., Jacquemont, S., Jeannet, P. Y., Jefferson, R. J., Kumar, R., Kutschke, G., Lundberg, S., Loureno, C. M., Mehta, R., Naidu, S., Nischal, K. K., Nunes, L., Ounap, K., Philippart, M., Prabhakar, P., Risen, S. R., Schiffmann, R., Soh, C., Stephenson, J. B. P., Stewart, H., Stone, J., Tolmie, J. L., Van Der Knaap, M. S., Vieira, J. P., Vilain, C. N., Wakeling, E. L., Wermenbol, V., Whitney, A., Lovell, S. C., Meyer, S., Livingston, J. H., Baerlocher, G. M., Black, G. C. M., Rice, G. I. & Yanick, J. Mar 2012 In : Nature Genetics. 44, 3, p. 338-342 5 p.

Research output: Contribution to journalArticle

Telomere Shortening
Telomere
Mutation
Dyskeratosis Congenita
DNA Polymerase I

Social impairments in Rett syndrome: Characteristics and relationship with clinical severity

Kaufmann, W. E., Tierney, E., Rohde, C. A., Suarez-Pedraza, M. C., Clarke, M. A., Salorio, C. F., Bibat, G., Bukelis, I., Naram, D., Lanham, D. C. & Naidu, S. Mar 2012 In : Journal of Intellectual Disability Research. 56, 3, p. 233-247 15 p.

Research output: Contribution to journalArticle

Syndrome
Rett Syndrome
Mutation
Questionnaire
Phenotype

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

Flint, D., Li, R., Webster, L. S., Naidu, S., Kolodny, E., Percy, A., van der Knaap, M., Powers, J. M., Mantovani, J. F., Ekstein, J., Goldman, J. E., Messing, A. & Brenner, M. Jul 2012 In : Human Mutation. 33, 7, p. 1141-1148 8 p.

Research output: Contribution to journalArticle

Alexander Disease
Glial Fibrillary Acidic Protein
Mutation
Intermediate Filaments
DNA
2011

Clinical criteria for Rett syndrome

Naidu, S. & Johnston, M. V. May 2011 In : Nature Reviews Neurology. 7, 6, p. 312-314 3 p.

Research output: Contribution to journalArticle

Rett Syndrome

Temporal and regional alterations in NMDA receptor expression in Mecp2-null mice

Blue, M. E., Kaufmann, W. E., Bressler, J., Eyring, C., O'driscoll, C., Naidu, S. & Johnston, M. V. Oct 2011 In : Anatomical Record. 294, 10, p. 1624-1634 11 p.

Research output: Contribution to journalArticle

aspartic acid
N-Methyl-D-Aspartate Receptors
receptors
mice
N-Methylaspartate

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism

Wang, Y., Busin, R., Reeves, C., Bezman, L., Raymond, G., Toomer, C. J., Watkins, P. A., Snowden, A., Moser, A., Naidu, S., Bibat, G., Hewson, S., Tam, K., Clarke, J. T. R., Charnas, L., Stetten, G., Karczeski, B., Cutting, G. & Steinberg, S. Sep 2011 In : Molecular Genetics and Metabolism. 104, 1-2, p. 160-166 7 p.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Mosaicism
Mutation
Callosities
Cyclic AMP Receptor Protein
2010

Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation

Jentarra, G. M., Olfers, S. L., Rice, S. G., Srivastava, N., Homanics, G. E., Blue, M., Naidu, S. & Narayanan, V. Feb 17 2010 In : BMC Neuroscience. 11, 19

Research output: Contribution to journalArticle

X-Linked Mental Retardation
Rett Syndrome
Cell Count
Mutation
Intellectual Disability

Bone mass in rett syndrome: Association with clinical parameters and MECP2 mutations

Shapiro, J. R., Bibat, G., Hiremath, G., Blue, M. E., Hundalani, S., Yablonski, T., Kantipuly, A., Rohde, C., Johnston, M. & Naidu, S. Nov 2010 In : Pediatric Research. 68, 5, p. 446-451 6 p.

Research output: Contribution to journalArticle

Rett Syndrome
Bone Density
Bone and Bones
Mutation
Scoliosis

Effects of Sedation on Auditory Brainstem Response in Rett Syndrome

Pillion, J. P., Bibat, G. & Naidu, S. May 2010 In : Pediatric Neurology. 42, 5, p. 331-334 4 p.

Research output: Contribution to journalArticle

Rett Syndrome
Brain Stem Auditory Evoked Potentials
Mutation
Intellectual Disability
Genes

Ocular MECP2 Protein Expression in Patients With and Without Rett Syndrome

Jain, D., Singh, K., Chirumamilla, S., Bibat, G. M., Blue, M. E., Naidu, S. R. & Eberhart, C. G. Jul 2010 In : Pediatric Neurology. 43, 1, p. 35-40 6 p.

Research output: Contribution to journalArticle

Methyl-CpG-Binding Protein 2
Rett Syndrome
Gene Expression
Proteins
Genes

White matter impairment in rett syndrome: Diffusion tensor imaging study with clinical correlations

Mahmood, A., Bibat, G., Zhan, A. L., Izbudak, I., Farage, L., Horska, A., Mori, S. & Naidu, S. Feb 2010 In : American Journal of Neuroradiology. 31, 2, p. 295-299 5 p.

Research output: Contribution to journalArticle

Rett Syndrome
Diffusion Tensor Imaging
White Matter
Carrier Proteins
Mutation
2009

An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant

Dotti, M. T., Buccoliero, R., Lee, A., Gorospe, J. R., Flint, D., Galluzzi, P., Bianchi, S., D'Eramo, C., Naidu, S., Federico, A. & Brenner, M. Apr 2009 In : Journal of Neurology. 256, 4, p. 679-682 4 p.

Research output: Contribution to journalArticle

Alexander Disease
Alleles
Mutation

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

Horská, A., Farage, L., Bibat, G., Nagae, L. M., Kaufmann, W. E., Barker, P. B. & Naidu, S. Jan 2009 In : Annals of Neurology. 65, 1, p. 90-97 8 p.

Research output: Contribution to journalArticle

Rett Syndrome
Genotype
Brain
Glutamine
Glutamic Acid

Two cases with progressive cystic leukoencephalopathy

Yapici, Z., Benbir, G., Saltik, S., He, L., Brown, G. K., Taylor, R. W., Dincer, A., Naidu, S. & Yalcinkaya, C. 2009 In : Neuropediatrics. 40, 1, p. 47-51 5 p.

Research output: Contribution to journalArticle

Leukoencephalopathies
White Matter
Mitochondrial Diseases
Nervous System Diseases
Magnetic Resonance Spectroscopy
2008

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

Fortunato, J. E., Darbari, A., Cuffari, C., Bibat, G., Koch, K., Desbiens, J., Brereton, H. & Naidu, S. 2008 In : Journal of Applied Research. 8, 2, p. 84-94 11 p.

Research output: Contribution to journalArticle

Rett Syndrome
Deglutition Disorders
Gastroesophageal Reflux
Peristalsis
Fundoplication

Selective cerebral volume reduction in Rett syndrome: A multiple-approach MR imaging study

Carter, J. C., Lanham, D. C., Pham, D., Bibat, G., Naidu, S. & Kaufmann, W. E. Mar 2008 In : American Journal of Neuroradiology. 29, 3, p. 436-441 6 p.

Research output: Contribution to journalArticle

Rett Syndrome
Brain
Neuroanatomy
Occipital Lobe
Parietal Lobe
2007

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

Russell, J. C., Blue, M. E., Johnston, M. V., Naidu, S. & Hossain, M. A. Dec 12 2007 In : Neuroscience. 150, 3, p. 563-574 12 p.

Research output: Contribution to journalArticle

Methyl-CpG-Binding Protein 2
Anoxia
Cell Death
Neurons
Apoptosis Inducing Factor
2006

Splice-site contribution in alternative splicing of PLP1 and DM20: Molecular studies in oligodendrocytes

Hobson, G. M., Huang, Z., Sperle, K., Sistermans, E., Rogan, P. K., Garbern, J. Y., Kolodny, E., Naidu, S. & Cambi, F. Jan 2006 In : Human Mutation. 27, 1, p. 69-77 9 p.

Research output: Contribution to journalArticle

Proteolipids
Oligodendroglia
Alternative Splicing
Proteins
Mutation

Sulphur anion metabolism in Rett syndrome patients: A pilot study

Waring, R., Naidu, S., Skjeldal, O., Klovrza, L. & Reichelt, K. L. 2006 In : Journal of Pediatric Neurology. 4, 4, p. 233-237 5 p.

Research output: Contribution to journalArticle

Rett Syndrome
Sulfur
Anions
Sulfates
Thiosulfates
2005

Cystic leukoencephalopathy without megalencephaly: A distinct disease entity in 15 children

Henneke, M., Preuss, N., Engelbrecht, V., Aksu, F., Bertini, E., Bibat, G., Brockmann, K., Hübner, C., Mayer, M., Mejaski-Bosnjak, V., Naidu, S., Neumaier-Probst, E., Rodriguez, D., Weisz, W., Kohlschütter, A. & Gärtner, J. Apr 26 2005 In : Neurology. 64, 8, p. 1411-1416 6 p.

Research output: Contribution to journalArticle

Megalencephaly
Leukoencephalopathies
Temporal Lobe
Cysts
Psychomotor Disorders

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

Yatsenko, S. A., Cheung, S. W., Scott, D. A., Nowaczyk, M. J. M., Tarnopolsky, M., Naidu, S., Bibat, G., Patel, A., Leroy, J. G., Scaglia, F., Stankiewicz, P. & Lupski, J. R. Apr 2005 In : Journal of Medical Genetics. 42, 4, p. 328-335 8 p.

Research output: Contribution to journalArticle

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

Li, R., Johnson, A. B., Salomons, G., Goldman, J. E., Naidu, S., Quinlan, R., Cree, B., Ruyle, S. Z., Banwell, B., D'Hooghe, M., Siebert, J. R., Rolf, C. M., Cox, H., Reddy, A., Gutiérrez-Solana, L. G., Collins, A., Weller, R. O., Messing, A., Van Der Knaap, M. S. & Brenner, M. Mar 2005 In : Annals of Neurology. 57, 3, p. 310-326 17 p.

Research output: Contribution to journalArticle

Alexander Disease
Glial Fibrillary Acidic Protein
Mutation
Clinical Pathology
Frontal Lobe

Histone modifications in Rett syndrome lymphocytes: A preliminary evaluation

Kaufmann, W. E., Jarrar, M. H., Wang, J. S., Lee, Y. J. M., Reddy, S., Bibat, G. & Naidu, S. Aug 2005 In : Brain and Development. 27, 5, p. 331-339 9 p.

Research output: Contribution to journalArticle

Rett Syndrome
Histones
Lymphocytes
Mutation
Acetylation

Progressive cavitating leukoencephalopathy: A novel childhood disease

Naidu, S., Bibat, G., Lin, D., Burger, P., Barker, P., Rosemberg, S., Braverman, N., Arroyo, H., Dowling, M., Hamosh, A., Kimonis, V., Blank, C., Fiumara, A., Facchini, S., Singhal, B., Moser, H., Kelley, R. & DiMauro, S. Dec 2005 In : Annals of Neurology. 58, 6, p. 929-938 10 p.

Research output: Contribution to journalArticle

Leukoencephalopathies
Magnetic Resonance Imaging
Brain
Persistent Vegetative State
Consanguinity

Rett syndrome and neuronal development

Johnston, M. V., Blue, M. E. & Naidu, S. Sep 2005 In : Journal of Child Neurology. 20, 9, p. 759-763 5 p.

Research output: Contribution to journalArticle

Rett Syndrome
Synapses
Glutamic Acid
Brain-Derived Neurotrophic Factor
gamma-Aminobutyric Acid
2004

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

Gorospe, J. R., Singhal, B. S., Kainu, T., Wu, F., Stephan, D., Trent, J., Hoffman, E. P. & Naidu, S. Mar 23 2004 In : Neurology. 62, 6, p. 878-882 5 p.

Research output: Contribution to journalArticle

Cysts
Mutation
Genes
Megalencephaly
Ethnic Groups

Indian Agarwal megalenceplialic leukodystrophy with cysts is caused by a common MLC1 mutation [2] (multiple letters)

Valk, J., Gorospe, J. R., Singhal, B. S., Hoffman, E. P. & Naidu, S. Dec 14 2004 In : Neurology. 63, 11, p. 2197 1 p.

Research output: Contribution to journalArticle

Cysts
Mutation

Leukoencephalopathy, cerebral calcifications, and cysts: New observations

Nagae-Poetscher, L. M., Bibat, G., Philippart, M., Rosemberg, S., Fatemi, A., Lacerda, M. T. C., Costa, M. O. R., Kok, F., Costa Leite, C., Horská, A., Barker, P. B. & Naidu, S. Apr 13 2004 In : Neurology. 62, 7, p. 1206-1209 4 p.

Research output: Contribution to journalArticle

Leukoencephalopathies
Cysts
Retinal Telangiectasis
Consanguinity
Protons