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1

Rett syndrome - natural history in 70 cases

Sakkubai Naidu, Mary Murphy, Hugo W. Moser, Andreas Rett, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 572 KB

english, 1986

2

Cognitive and brain magnetic resonance imaging findings in adrenomyeloneuropathy

Dr David Edwin, Lynn J. Speedie, Wolfgang Kohler, Sakkubai Naidu, Hugo W. Moser, Bernd Kruse

Journal:

Annals of Neurology

Year:

1996

Language:

english

File:

PDF, 377 KB

english, 1996

3

Neurobiology of Rett syndrome: a genetic disorder of synapse development

Michael V. Johnston, Ok-Hee Jeon, Jonathan Pevsner, Mary E. Blue, SakkuBai Naidu

Journal:

Brain and Development

Year:

2001

Language:

english

File:

PDF, 297 KB

english, 2001

4

Rett syndrome: New observations

Naidu, Sakkubai, Chatterjee, Subroto, Murphy, Mary, Uematsu, Sumio, Phillapart, Michel, Moser, Hugo

Journal:

Brain and Development

Year:

1987

Language:

english

File:

PDF, 1.72 MB

english, 1987

5

Clinical Aspects of Adrenoleukodystrophy and Adrenomyeloneuropathy

Moser, Hugo W., Moser, Ann B., Naidu, Sakkubai, Bergin, Ann

Journal:

Developmental Neuroscience

Year:

1991

File:

PDF, 1.14 MB

1991

6

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

Gardner, Jennifer, Cushion, Thomas, Niotakis, Georgios, Olson, Heather, Grant, P., Scott, Richard, Stoodley, Neil, Cohen, Julie, Naidu, Sakkubai, Attie-Bitach, Tania, Bonnières, Maryse, Boutaud, Lucil

Journal:

Year:

2018

Language:

english

File:

PDF, 2.16 MB

english, 2018

7

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

Kim, Hyung-Goo, Rosenfeld, Jill A., Scott, Daryl A., Bénédicte, Gerard, Labonne, Jonathan D., Brown, Jason, McGuire, Marianne, Mahida, Sonal, Naidu, Sakkubai, Gutierrez, Jacqueline, Lesca, Gaetan, des

Journal:

Molecular Autism

Year:

2019

Language:

english

File:

PDF, 12.50 MB

english, 2019

8

Mutation analysis of the M6b gene in patients with Rett syndrome

Narayanan, Vinodh, Olinsky, Shari, Dahle, Elizabeth, Naidu, Sakkubai, Zoghbi, Huda Y.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 72 KB

english, 1998

9

Different mutations in the same codon of the proteolipid protein gene,PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2)

Hodes, M.E., Zimmerman, Andrew W., Aydanian, Antonina, Naidu, Sakkubai, Miller, Neil R., Oller, Jos� L. Garcia, Barker, Bruce, Aleck, Kirk A., Hurley, Thomas D., Dlouhy, Stephen R.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 530 KB

english, 1999

10

Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls

Ann B. Moser, Nancy Kreiter, Lena Bezman, Shou-En Lu, Gerald V. Raymond, Sakkubai Naidu, Hugo W. Moser

Journal:

Annals of Neurology

Year:

1999

Language:

english

File:

PDF, 382 KB

english, 1999

11

Development of amino acid receptors in frontal cortex from girls with Rett syndrome

Mary E. Blue, Sakkubai Naidu, Michael V. Johnston

Journal:

Annals of Neurology

Year:

1999

Language:

english

File:

PDF, 4.44 MB

english, 1999

12

Rett syndrome - observational study of 33 families

Mary Murphy, Sakkubai Naidu, Hugo W. Moser, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 153 KB

english, 1986

13

Positron emission tomographic study of D2 dopamine receptor binding and CSF biogenic amine metabolites in rett syndrome

James C. Harris, Dean F. Wong, Henry N. Wagner Jr., Andreas Rett, Sakkubai Naidu, R. F. Dannals, J. M. Links, Mark L. Batshaw, Hugo W. Moser, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 468 KB

english, 1986

14

Chromosome studies in 10 patients with the rett syndrome

Jay W. Moore, Cathy M. Tuck-Muller, Mary Murphy, Sakkubai Naidu, George H. Thomas, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 447 KB

english, 1986

15

Selenium treatment in neuronal ceroid-lipofuscinosis

Sakkubai Naidu, Irene Maumanee, Jean Olson, Janet Borel, Hugo Moser, John M. Opitz, James F. Reynolds, Raju K. Pullarkat

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 442 KB

english, 1988

16

Diagnoses of neuronal ceroid-lipofuscinosis by immunochemical methods

Syed Hosain, Walter E. Kaufmann, Gisela Negrin, Paul A. Watkins, Aristotle N. Siakotos, David N. Palmer, SakkuBai Naidu

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 799 KB

english, 1995

17

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

Marjo S. van der Knaap, Peter A. J. Leegwater, Andrea A.M. Könst, Allerdien Visser, Sakkubai Naidu, Cees B.M. Oudejans, Ruud B.H. Schutgens, Jan C. Pronk

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 977 KB

english, 2002

18

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

Gabriele V. Ronnett, Donald Leopold, Xiaohe Cai, Kristen C. Hoffbuhr, Linda Moses, Eric P. Hoffman, Sakkubai Naidu

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 734 KB

english, 2003

19

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

Rong Li, Anne B. Johnson, Gajja Salomons, James E. Goldman, Sakkubai Naidu, Roy Quinlan, Bruce Cree, Stephanie Z. Ruyle, Brenda Banwell, Marc D'Hooghe, Joseph R. Siebert, Cristin M. Rolf, Helen Cox, A

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 1.23 MB

english, 2005

20

Progressive cavitating leukoencephalopathy: A novel childhood disease

SakkuBai Naidu, Genila Bibat, Doris Lin, Peter Burger, Peter Barker, Sergio Rosemberg, Nancy Braverman, Hugo Arroyo, Michael Dowling, Ada Hamosh, Virginia Kimonis, Carol Blank, Agata Fiumara, Sergio F

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 1.25 MB

english, 2005

21

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

Alena Horská, Luciano Farage, Genila Bibat, Lídia M. Nagae, Walter E. Kaufmann, Peter B. Barker, Sakkubai Naidu

Journal:

Annals of Neurology

Year:

2009

Language:

english

File:

PDF, 306 KB

english, 2009

22

Juvenile parkinsonism: A patient with possible primary striatal dysfunction

Sakkubai Naidu, Dr Leslie I. Wolfson, Nansie S. Sharpless

Journal:

Annals of Neurology

Year:

1978

Language:

english

File:

PDF, 310 KB

english, 1978

23

Sydenham's chorea: A possible presynaptic dopaminergic dysfunction initially

Sakkubai Naidu, N. Narasimhachari

Journal:

Annals of Neurology

Year:

1980

Language:

english

File:

PDF, 328 KB

english, 1980

24

A new dietary therapy for adrenoleukodystrophy: Biochemical and preliminary clinical results in 36 patients

Ann B. Moser, Janet Borel, Augusto Odone, Sakkubai Naidu, David Cornblath, Donald B. Sanders, Dr. Hugo W. Moser

Journal:

Annals of Neurology

Year:

1987

Language:

english

File:

PDF, 986 KB

english, 1987

25

Neuroanatomy of Rett syndrome: A volumetric imaging study

Dr. Allan L. Reiss, Faisal Faruque, Sakkubai Naidu, Michael Abrams, Terri Beaty, R. Nick Bryan, Hugo Moser

Journal:

Annals of Neurology

Year:

1993

Language:

english

File:

PDF, 1022 KB

english, 1993

26

Neuronal migration abnormality in peroxisomal bifunctional enzyme defect

Dr. Walter E. Kaufmann, Christiane Theda, Sakkubai Naidu, Paul A. Watkins, Ann B. Moser, Hugo W. Moser

Journal:

Annals of Neurology

Year:

1996

Language:

english

File:

PDF, 475 KB

english, 1996

27

Rett syndrome: A disorder affecting early brain growth

Dr. SakkuBai Naidu

Journal:

Annals of Neurology

Year:

1997

Language:

english

File:

PDF, 840 KB

english, 1997

28

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

Mary E. Blue, Walter E. Kaufmann, Joseph Bressler, Charlotte Eyring, Cliona O'driscoll, Sakkubai Naidu, Michael V. Johnston

Journal:

The Anatomical Record Advances in Integrative Anatomy and Evolutionary Biology

Year:

2011

Language:

english

File:

PDF, 995 KB

english, 2011

29

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

Grace M. Hobson, Zhong Huang, Karen Sperle, Erik Sistermans, Peter K. Rogan, James Y. Garbern, Edwin Kolodny, Sakkubai Naidu, Franca Cambi

Journal:

Year:

2006

Language:

english

File:

PDF, 236 KB

english, 2006

30

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

Alena Horská, Walter E. Kaufmann, Larry J. Brant, Sakkubai Naidu, James C. Harris, Peter B. Barker

Journal:

Journal of Magnetic Resonance Imaging

Year:

2002

Language:

english

File:

PDF, 360 KB

english, 2002

31

Unusual types of leukodystrophy

Journal:

Molecular and Chemical Neuropathology (Neurochemical Pathology)

Year:

1996

Language:

english

File:

PDF, 111 KB

english, 1996

32

A patient with an unusual form of metachromatic leukodystrophy

Journal:

Molecular and Chemical Neuropathology (Neurochemical Pathology)

Year:

1996

Language:

english

File:

PDF, 115 KB

english, 1996

33

Cognitive impairment in adult-onset adrenoleukodystrophy

David Edwin, Lynn Speedie, Sakkubai Naidu, Hugo Moser

Journal:

Molecular and Chemical Neuropathology (Neurochemical Pathology)

Year:

1990

Language:

english

File:

PDF, 652 KB

english, 1990

34

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

Maria Teresa Dotti, Rosaria Buccoliero, Andrew Lee, J. Raphael Gorospe, Daniel Flint, Paolo Galluzzi, Silvia Bianchi, Camilla D’Eramo, Sakkubai Naidu, Antonio Federico, Michael Brenner

Journal:

Journal of Neurology

Year:

2009

Language:

english

File:

PDF, 275 KB

english, 2009

35

Prevalence of hearing loss in Rett syndrome

Joseph P Pillion, Vishakha W Rawool, Genila Bibat, Sakkubai Naidu

Journal:

Developmental Medicine & Child Neurology

Year:

2003

Language:

english

File:

PDF, 64 KB

english, 2003

36

10.1038/ng764

Leegwater, Peter A.J., Vermeulen, Gerre, Könst, Andrea A.M., Naidu, Sakkubai, Mulders, Joyce, Visser, Allerdien, Kersbergen, Paula, Mobach, Dragosh, Fonds, Dafna, van Berkel, Carola G.M., Lemmers, Ric

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 2.90 MB

english, 2001

37

Clinical delineation of unclassified leukodystrophies

Journal:

Journal of Molecular Neuroscience

Year:

1999

Language:

english

File:

PDF, 60 KB

english, 1999

38

Clinical delineation of leukodystrophies

Journal:

Journal of Molecular Neuroscience

Year:

1999

Language:

english

File:

PDF, 100 KB

english, 1999

39

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

Daniel Flint, Rong Li, Lital S. Webster, Sakkubai Naidu, Edwin Kolodny, Alan Percy, Marjo van der Knaap, James M. Powers, John F. Mantovani, Josef Ekstein, James E. Goldman, Albee Messing, Michael Bre

Journal:

Year:

2012

Language:

english

File:

PDF, 382 KB

english, 2012

40

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

James Robert Brašić, Genila Bibat, Anil Kumar, Yun Zhou, John Hilton, Marybeth E. Yablonski, Ahmet Semih Dogan, Maria Rita Guevara, Massoud Stephane, Michael Johnston, Dean Foster Wong, Sakkubai Naidu

Journal:

Year:

2012

Language:

english

File:

PDF, 1.28 MB

english, 2012

41

New sites of ocular involvement in late-infantile metachromatic leukodystrophy revealed by histopathologic studies

Ingrid U. Scott, W. Richard Green, Anil K. Goyal, Zenaida Cruz, Sakkubai Naidu, Hugo Moser

Journal:

Graefe's Archive for Clinical and Experimental Ophthalmology

Year:

1993

Language:

english

File:

PDF, 2.76 MB

english, 1993

42

Degenerative disorders of the brain—a clinical and biochemical approach

Edward M. Goldstein, Sakkubai Naidu

Journal:

Indian Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 711 KB

english, 1990

43

Histone modifications in Rett syndrome lymphocytes: a preliminary evaluation

Walter E. Kaufmann, Mohammed H. Jarrar, Judy S. Wang, Ye-Jin M. Lee, Sriram Reddy, Genila Bibat, Sakkubai Naidu

Journal:

Brain and Development

Year:

2005

Language:

english

File:

PDF, 148 KB

english, 2005

44

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

Garilyn M Jentarra, Shannon L Olfers, Stephen G Rice, Nishit Srivastava, Gregg E Homanics, Mary Blue, SakkuBai Naidu, Vinodh Narayanan

Journal:

BMC Neuroscience

Year:

2010

Language:

english

File:

PDF, 4.75 MB

english, 2010

45

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

Mary E. Blue, Sakkubai Naidu, Michael V. Johnston

Journal:

Experimental Neurology

Year:

1999

Language:

english

File:

PDF, 1.85 MB

english, 1999

46

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

Carlo Colantuoni, Ok-Hee Jeon, Karim Hyder, Alex Chenchik, Anis H. Khimani, Vinodh Narayanan, Eric P. Hoffman, Walter E. Kaufmann, SakkuBai Naidu, Jonathan Pevsner

Journal:

Neurobiology of Disease

Year:

2001

Language:

english

File:

PDF, 953 KB

english, 2001

47

Molecular basis of neurology: P.M. Conneally (Ed.) (Blackwell Scientific Publications, Cambridge, MA, 1993, 296 p., Price: U.S. $39.95)

Journal:

Electroencephalography and Clinical Neurophysiology

Year:

1994

Language:

english

File:

PDF, 83 KB

english, 1994

48

Course Number 431: Pediatrics Functional Outcome in Rett Syndrome Based on Genotype

Frank S. Pidcock, Genila M. Bibat, Cynthia F. Salorio, Jennifer O. Swain, Jocelyn M. Scheller, SakkuBai Naidu

Journal:

Archives of Physical Medicine and Rehabilitation

Year:

2007

Language:

english

File:

PDF, 37 KB

english, 2007

49

Effects of Sedation on Auditory Brainstem Response in Rett Syndrome

Joseph P. Pillion, Genila Bibat, Sakkubai Naidu

Journal:

Pediatric Neurology

Year:

2010

Language:

english

File:

PDF, 87 KB

english, 2010

50

Ocular MECP2 Protein Expression in Patients With and Without Rett Syndrome

Deepali Jain, Kamaljeet Singh, Sankar Chirumamilla, Genila M. Bibat, Mary E. Blue, SakkuBai R. Naidu, Charles G. Eberhart

Journal:

Pediatric Neurology

Year:

2010

Language:

english

File:

PDF, 806 KB

english, 2010