nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A biogenic amine-synapse mechanism for mental retardation and developmental disabilities
|
Okado, Nobuo |
|
2001 |
23 |
S1 |
p. S11-S15 5 p. |
artikel |
2 |
A case of effective gastrostomy for severe abdominal distention due to breathing dysfunction of Rett's syndrome: a treatment of autonomic disorder
|
Anzai, Yuki |
|
2001 |
23 |
S1 |
p. S240-S241 2 p. |
artikel |
3 |
A new assay for the analysis of X-chromosome inactivation in carriers with an X-linked disease
|
Kubota, Takeo |
|
2001 |
23 |
S1 |
p. S177-S181 5 p. |
artikel |
4 |
A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2
|
Nielsen, Jytte Bieber |
|
2001 |
23 |
S1 |
p. S230-S232 3 p. |
artikel |
5 |
Bone histomorphometry in three females with Rett syndrome
|
Budden, Sarojini S |
|
2001 |
23 |
S1 |
p. S133-S137 5 p. |
artikel |
6 |
Brain-directed autoantibodies levels in the serum of Rett syndrome patients
|
Klushnik, Tatiana P |
|
2001 |
23 |
S1 |
p. S113-S117 5 p. |
artikel |
7 |
Cerebrolysin therapy in Rett syndrome: clinical and EEG mapping study
|
Gorbachevskaya, Natalia |
|
2001 |
23 |
S1 |
p. S90-S93 4 p. |
artikel |
8 |
Clinical, neurophysiological and immunological correlations in classical Rett syndrome
|
Gratchev, Vitali V. |
|
2001 |
23 |
S1 |
p. S108-S112 5 p. |
artikel |
9 |
Cytogenetic and molecular-cytogenetic studies of Rett syndrome (RTT): a retrospective analysis of a Russian cohort of RTT patients (the investigation of 57 girls and three boys)
|
Vorsanova, Svetlana G. |
|
2001 |
23 |
S1 |
p. S196-S201 6 p. |
artikel |
10 |
Development of language in Rett syndrome
|
Uchino, June |
|
2001 |
23 |
S1 |
p. S233-S235 3 p. |
artikel |
11 |
Discussant – pathophysiologies of Rett syndrome
|
Segawa, Masaya |
|
2001 |
23 |
S1 |
p. S218-S223 6 p. |
artikel |
12 |
Disturbance of phasic chin muscle activity during rapid-eye-movement sleep
|
Kohyama, Jun |
|
2001 |
23 |
S1 |
p. S104-S107 4 p. |
artikel |
13 |
Facilitation of saccade initiation by brainstem cholinergic system
|
Kobayashi, Yasushi |
|
2001 |
23 |
S1 |
p. S24-S27 4 p. |
artikel |
14 |
FISH analysis of replication and transcription of chromosome X loci: new approach for genetic analysis of Rett syndrome
|
Vorsanova, Svetlana G |
|
2001 |
23 |
S1 |
p. S191-S195 5 p. |
artikel |
15 |
Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems
|
Kudo, Shinichi |
|
2001 |
23 |
S1 |
p. S165-S173 9 p. |
artikel |
16 |
Genetic evidence for noradrenergic control of long-term memory consolidation
|
Kobayashi, Kazuto |
|
2001 |
23 |
S1 |
p. S16-S23 8 p. |
artikel |
17 |
Gross motor ability in Rett syndrome – the power of expectation, motivation and planning
|
Larsson, Gunilla |
|
2001 |
23 |
S1 |
p. S77-S81 5 p. |
artikel |
18 |
Head growth in Rett syndrome
|
Hagberg, G |
|
2001 |
23 |
S1 |
p. S227-S229 3 p. |
artikel |
19 |
Importance of Rett syndrome in child neurology
|
Dunn, Henry G. |
|
2001 |
23 |
S1 |
p. S38-S43 6 p. |
artikel |
20 |
Magnetic resonance imaging and clinical findings examined in adulthood-studies on three adults with Rett syndrome
|
Gotoh, Harumi |
|
2001 |
23 |
S1 |
p. S118-S121 4 p. |
artikel |
21 |
MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region
|
Vacca, Marcella |
|
2001 |
23 |
S1 |
p. S246-S250 5 p. |
artikel |
22 |
Medium-term open label trial of L-carnitine in Rett syndrome
|
Ellaway, Carolyn J |
|
2001 |
23 |
S1 |
p. S85-S89 5 p. |
artikel |
23 |
Mind and brain in Rett disorder
|
Kerr, Alison M. |
|
2001 |
23 |
S1 |
p. S44-S49 6 p. |
artikel |
24 |
Molecular-cytogenetic investigation of skewed chromosome X inactivation in Rett syndrome
|
Yurov, Yuri B. |
|
2001 |
23 |
S1 |
p. S214-S217 4 p. |
artikel |
25 |
Multicolor fluorescent in situ hybridization on post-mortem brain in schizophrenia as an approach for identification of low-level chromosomal aneuploidy in neuropsychiatric diseases
|
Yurov, Yuri B |
|
2001 |
23 |
S1 |
p. S186-S190 5 p. |
artikel |
26 |
Music therapy for children with Rett syndrome
|
Yasuhara, Akihiro |
|
2001 |
23 |
S1 |
p. S82-S84 3 p. |
artikel |
27 |
Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech
|
Yamashita, Yushiro |
|
2001 |
23 |
S1 |
p. S157-S160 4 p. |
artikel |
28 |
Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome
|
Van den Veyver, Ignatia B. |
|
2001 |
23 |
S1 |
p. S147-S151 5 p. |
artikel |
29 |
Neurobiology and neurochemistry of Rett syndrome
|
Matsuishi, Toyojiro |
|
2001 |
23 |
S1 |
p. S58-S61 4 p. |
artikel |
30 |
Neurobiology of Rett syndrome: a genetic disorder of synapse development
|
Johnston, Michael V. |
|
2001 |
23 |
S1 |
p. S206-S213 8 p. |
artikel |
31 |
Neuroimaging studies in Rett syndrome
|
Naidu, S. |
|
2001 |
23 |
S1 |
p. S62-S71 10 p. |
artikel |
32 |
Neuronal instability: implications for Rett's syndrome
|
Azmitia, Efrain C |
|
2001 |
23 |
S1 |
p. S1-S10 10 p. |
artikel |
33 |
Neurons and neuronal systems involved in the pathophysiologies of Rett syndrome
|
Dunn, Henry G. |
|
2001 |
23 |
S1 |
p. S99-S100 2 p. |
artikel |
34 |
Neurophysiology of Rett syndrome
|
Nomura, Yoshiko |
|
2001 |
23 |
S1 |
p. S50-S57 8 p. |
artikel |
35 |
Oxidative stress in Rett syndrome
|
Sierra, Cristina |
|
2001 |
23 |
S1 |
p. S236-S239 4 p. |
artikel |
36 |
Pathophysiology of Rett syndrome from the stand point of clinical characteristics
|
Segawa, Masaya |
|
2001 |
23 |
S1 |
p. S94-S98 5 p. |
artikel |
37 |
Preface
|
Segawa, Masaya |
|
2001 |
23 |
S1 |
p. xi- 1 p. |
artikel |
38 |
R133C and R168X mutations in Japanese Rett syndrome patients: a caution for misdiagnosis
|
Amano, Kenji |
|
2001 |
23 |
S1 |
p. S152-S156 5 p. |
artikel |
39 |
Reduced expression of neuropeptides can be related to respiratory disturbances in Rett syndrome
|
Saito, Yoshiaki |
|
2001 |
23 |
S1 |
p. S122-S126 5 p. |
artikel |
40 |
Regulation of transcription and chromatin by methyl-CpG binding protein MBD1
|
Nakao, Mitsuyoshi |
|
2001 |
23 |
S1 |
p. S174-S176 3 p. |
artikel |
41 |
Rethinking the fate of males with mutations in the gene that causes Rett syndrome
|
Schanen, Carolyn |
|
2001 |
23 |
S1 |
p. S144-S146 3 p. |
artikel |
42 |
Rett syndrome: clinical correlates of the newly discovered gene
|
Percy, Alan K |
|
2001 |
23 |
S1 |
p. S202-S205 4 p. |
artikel |
43 |
Rett syndrome in Spain: mutation analysis and clinical correlations
|
Monrós, Eugènia |
|
2001 |
23 |
S1 |
p. S251-S253 3 p. |
artikel |
44 |
Rett syndrome neuropathology review 2000
|
Armstrong, Dawna Duncan |
|
2001 |
23 |
S1 |
p. S72-S76 5 p. |
artikel |
45 |
Rett syndrome: update of a 25 year follow-up investigation in Western Sweden – sociomedical aspects
|
Berg, Marie |
|
2001 |
23 |
S1 |
p. S224-S226 3 p. |
artikel |
46 |
Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration
|
Ellaway, Carolyn |
|
2001 |
23 |
S1 |
p. S101-S103 3 p. |
artikel |
47 |
Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation
|
Giunti, L. |
|
2001 |
23 |
S1 |
p. S242-S245 4 p. |
artikel |
48 |
Spectrum of MECP2 mutations in Rett syndrome
|
Sung Jae Lee, Stephen |
|
2001 |
23 |
S1 |
p. S138-S143 6 p. |
artikel |
49 |
Substance P immunoreactivity in the enteric nervous system in Rett syndrome
|
Deguchi, Kimiko |
|
2001 |
23 |
S1 |
p. S127-S132 6 p. |
artikel |
50 |
The biological functions of the methyl-CpG-binding protein MeCP2 and its implication in Rett syndrome
|
Nan, Xinsheng |
|
2001 |
23 |
S1 |
p. S32-S37 6 p. |
artikel |
51 |
The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome
|
Ishii, Takuma |
|
2001 |
23 |
S1 |
p. S161-S164 4 p. |
artikel |
52 |
The role of X-chromosome inactivation in the manifestation of Rett syndrome
|
Takagi, Nobuo |
|
2001 |
23 |
S1 |
p. S182-S185 4 p. |
artikel |
53 |
Three decades of sociomedical experiences from West Swedish Rett females 4–60 years of age
|
Hagberg, Bengt |
|
2001 |
23 |
S1 |
p. S28-S31 4 p. |
artikel |