| 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
|
|
S1 |
p. S11-S15
5 p.
|
artikel
|
| 2 |
Abnormal general movements in girls with Rett disorder: The first four months of life
|
Einspieler, Christa
|
|
2005
|
|
S1 |
p. S8-S13
6 p.
|
artikel
|
| 3 |
Abnormalities of voluntary saccades in Gilles de la Tourette's syndrome: pathophysiological consideration
|
Nomura, Yoshiko
|
|
2003
|
|
S1 |
p. S48-S54
7 p.
|
artikel
|
| 4 |
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
|
|
S1 |
p. S240-S241
2 p.
|
artikel
|
| 5 |
Advances in the genetics of hereditary hypertrophic neuropathy in childhood
|
Ouvrier, Robert A.
|
|
1995
|
|
S1 |
p. 31-38
8 p.
|
artikel
|
| 6 |
Alterations of tetrahydrobiopterin biosynthesis and pteridine levels in mouse tissues during growth and aging
|
Yoshida, Yu-Ichi
|
|
2000
|
|
S1 |
p. 45-49
5 p.
|
artikel
|
| 7 |
A new assay for the analysis of X-chromosome inactivation in carriers with an X-linked disease
|
Kubota, Takeo
|
|
2001
|
|
S1 |
p. S177-S181
5 p.
|
artikel
|
| 8 |
A short reflection on Japanese contributions to pediatric epileptology — Thanks in return
|
Fukuyama, Yukio
|
|
1995
|
|
S1 |
p. 11-16
6 p.
|
artikel
|
| 9 |
Assessment of the maturity-related brainstem functions reveals the heterogeneous phenotypes and facilitates clinical management of Rett syndrome
|
Julu, Peter O.O.
|
|
2005
|
|
S1 |
p. S43-S53
11 p.
|
artikel
|
| 10 |
A tribute in San Francisco, 3 October 1994
|
Stumpf, David A.
|
|
1995
|
|
S1 |
p. 8-10
3 p.
|
artikel
|
| 11 |
Author Index
|
|
|
2004
|
|
S1 |
p. I-II
nvt p.
|
artikel
|
| 12 |
Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification
|
Yamamura, Yasuhiro
|
|
2000
|
|
S1 |
p. 87-91
5 p.
|
artikel
|
| 13 |
Autosomal recessive juvenile parkinsonism
|
Saito, Masaaki
|
|
2000
|
|
S1 |
p. 115-117
3 p.
|
artikel
|
| 14 |
A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2
|
Nielsen, Jytte Bieber
|
|
2001
|
|
S1 |
p. S230-S232
3 p.
|
artikel
|
| 15 |
Bone histomorphometry in three females with Rett syndrome
|
Budden, Sarojini S
|
|
2001
|
|
S1 |
p. S133-S137
5 p.
|
artikel
|
| 16 |
Brain-directed autoantibodies levels in the serum of Rett syndrome patients
|
Klushnik, Tatiana P
|
|
2001
|
|
S1 |
p. S113-S117
5 p.
|
artikel
|
| 17 |
Can we relate MeCP2 deficiency to the structural and chemical abnormalities in the Rett brain?
|
Armstrong, Dawna Duncan
|
|
2005
|
|
S1 |
p. S72-S76
5 p.
|
artikel
|
| 18 |
Cerebrolysin therapy in Rett syndrome: clinical and EEG mapping study
|
Gorbachevskaya, Natalia
|
|
2001
|
|
S1 |
p. S90-S93
4 p.
|
artikel
|
| 19 |
Child neurology in Taiwan, ROC: past, present and future
|
Shen, Yu-Zen
|
|
1995
|
|
S1 |
p. 20-21
2 p.
|
artikel
|
| 20 |
Clinical characteristics of adult patients with tics and/or Tourette's syndrome
|
Ohta, Masataka
|
|
2003
|
|
S1 |
p. S32-S36
5 p.
|
artikel
|
| 21 |
Clinical, neurophysiological and immunological correlations in classical Rett syndrome
|
Gratchev, Vitali V.
|
|
2001
|
|
S1 |
p. S108-S112
5 p.
|
artikel
|
| 22 |
Clinical profile of a male with Rett syndrome
|
Budden, Sarojini S.
|
|
2005
|
|
S1 |
p. S69-S71
3 p.
|
artikel
|
| 23 |
Correlations between clinical and neuropathological diagnosis of cortical anomalies in developmentally disabled children
|
Wisniewski, Krystyna E.
|
|
1995
|
|
S1 |
p. 48-54
7 p.
|
artikel
|
| 24 |
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
|
|
S1 |
p. S196-S201
6 p.
|
artikel
|
| 25 |
Deflazacort vs. prednisone in Duchenne muscular dystrophy: trends of an ongoing study
|
Reitter, Bernd
|
|
1995
|
|
S1 |
p. 39-43
5 p.
|
artikel
|
| 26 |
Development of language in Rett syndrome
|
Uchino, June
|
|
2001
|
|
S1 |
p. S233-S235
3 p.
|
artikel
|
| 27 |
Development of the nigrostriatal dopamine neuron and the pathways in the basal ganglia
|
Segawa, Masaya
|
|
2000
|
|
S1 |
p. 1-4
4 p.
|
artikel
|
| 28 |
Development of the nosological analysis of juvenile parkinsonism
|
Yokochi, Masayuki
|
|
2000
|
|
S1 |
p. 81-86
6 p.
|
artikel
|
| 29 |
Diagnosis and treatment of 6-pyruvoyl-tetrahydropterin synthase deficiency
|
Shintaku, Haruo
|
|
2000
|
|
S1 |
p. 118-121
4 p.
|
artikel
|
| 30 |
Discussant – pathophysiologies of Rett syndrome
|
Segawa, Masaya
|
|
2001
|
|
S1 |
p. S218-S223
6 p.
|
artikel
|
| 31 |
Disorganized rhythm and synchrony: Early signs of autism and Rett syndrome
|
Trevarthen, Colwyn
|
|
2005
|
|
S1 |
p. S25-S34
10 p.
|
artikel
|
| 32 |
Disturbance of phasic chin muscle activity during rapid-eye-movement sleep
|
Kohyama, Jun
|
|
2001
|
|
S1 |
p. S104-S107
4 p.
|
artikel
|
| 33 |
Does an imbalance between the dorsal and ventral striatopallidal systems play a role in Tourette's syndrome? A neuronal circuit approach
|
Groenewegen, Henk J.
|
|
2003
|
|
S1 |
p. S3-S14
12 p.
|
artikel
|
| 34 |
Dopamine deficiency in mice
|
Kobayashi, Kazuto
|
|
2000
|
|
S1 |
p. 54-60
7 p.
|
artikel
|
| 35 |
Early behavior characteristics and sleep disturbance in Rett syndrome
|
Nomura, Yoshiko
|
|
2005
|
|
S1 |
p. S35-S42
8 p.
|
artikel
|
| 36 |
Early motor disturbances in Rett syndrome and its pathophysiological importance
|
Segawa, Masaya
|
|
2005
|
|
S1 |
p. S54-S58
5 p.
|
artikel
|
| 37 |
Editorial Board
|
|
|
2004
|
|
S1 |
p. IFC-
1 p.
|
artikel
|
| 38 |
Epilepsy etiology with special emphasis on immune dysfunction and neurovirology
|
Eeg-Olofsson, O.
|
|
1995
|
|
S1 |
p. 58-60
3 p.
|
artikel
|
| 39 |
Ethical problems in prenatal diagnosis: pediatric considerations
|
Lenard, Hans-Gerd
|
|
1995
|
|
S1 |
p. 44-47
4 p.
|
artikel
|
| 40 |
Facilitation of saccade initiation by brainstem cholinergic system
|
Kobayashi, Yasushi
|
|
2001
|
|
S1 |
p. S24-S27
4 p.
|
artikel
|
| 41 |
FISH analysis of replication and transcription of chromosome X loci: new approach for genetic analysis of Rett syndrome
|
Vorsanova, Svetlana G
|
|
2001
|
|
S1 |
p. S191-S195
5 p.
|
artikel
|
| 42 |
Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems
|
Kudo, Shinichi
|
|
2001
|
|
S1 |
p. S165-S173
9 p.
|
artikel
|
| 43 |
Gene mutation in hereditary progressive dystonia with marked diurnal fluctuation (HPD), strictly defined dopa-responsive dystonia
|
Nishiyama, Nobuyoshi
|
|
2000
|
|
S1 |
p. 102-106
5 p.
|
artikel
|
| 44 |
Genetic evidence for noradrenergic control of long-term memory consolidation
|
Kobayashi, Kazuto
|
|
2001
|
|
S1 |
p. S16-S23
8 p.
|
artikel
|
| 45 |
Genetics of obsessive-compulsive disorders: new findings and challenges
|
Grados, Marco A.
|
|
2003
|
|
S1 |
p. S55-S61
7 p.
|
artikel
|
| 46 |
Genotype and early development in Rett syndrome: The value of international data
|
Leonard, Helen
|
|
2005
|
|
S1 |
p. S59-S68
10 p.
|
artikel
|
| 47 |
Gradual changes in environmental light intensity and entrainment of circadian rhythms
|
Usui, Setsuo
|
|
2000
|
|
S1 |
p. 61-64
4 p.
|
artikel
|
| 48 |
Gross motor ability in Rett syndrome – the power of expectation, motivation and planning
|
Larsson, Gunilla
|
|
2001
|
|
S1 |
p. S77-S81
5 p.
|
artikel
|
| 49 |
Head growth in Rett syndrome
|
Hagberg, G
|
|
2001
|
|
S1 |
p. S227-S229
3 p.
|
artikel
|
| 50 |
Hereditary progressive dystonia with marked diurnal fluctuation
|
Segawa, Masaya
|
|
2000
|
|
S1 |
p. 65-80
16 p.
|
artikel
|
| 51 |
History of the tuberous sclerosis complex
|
Gómez, Manuel Rodríguez
|
|
1995
|
|
S1 |
p. 55-57
3 p.
|
artikel
|
| 52 |
IFC (Editorial Board)
|
|
|
2005
|
|
S1 |
p. CO2-
1 p.
|
artikel
|
| 53 |
II Eastern Mediterranean meeting on cerebral palsy and developmental medicine, 13–16 May 2004, Santorini, Greece.
|
|
|
2004
|
|
S1 |
p. S1-S2
2 p.
|
artikel
|
| 54 |
Importance of Rett syndrome in child neurology
|
Dunn, Henry G.
|
|
2001
|
|
S1 |
p. S38-S43
6 p.
|
artikel
|
| 55 |
Intracortical inhibition of the motor cortex in movement disorders
|
Hanajima, Ritsuko
|
|
2000
|
|
S1 |
p. 132-135
4 p.
|
artikel
|
| 56 |
Learning ability in children with Rett syndrome
|
Elefant, Cochavit
|
|
2005
|
|
S1 |
p. S97-S101
5 p.
|
artikel
|
| 57 |
Magnetic resonance imaging and clinical findings examined in adulthood-studies on three adults with Rett syndrome
|
Gotoh, Harumi
|
|
2001
|
|
S1 |
p. S118-S121
4 p.
|
artikel
|
| 58 |
Main Sessions
|
|
|
2004
|
|
S1 |
p. S3-S20
18 p.
|
artikel
|
| 59 |
Management of young children with Rett disorder in the controlled multi-sensory (Snoezelen) environment
|
Lotan, Meir
|
|
2005
|
|
S1 |
p. S88-S94
7 p.
|
artikel
|
| 60 |
MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolution
|
Kaufmann, Walter E.
|
|
2005
|
|
S1 |
p. S77-S87
11 p.
|
artikel
|
| 61 |
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
|
|
S1 |
p. S246-S250
5 p.
|
artikel
|
| 62 |
Medium-term open label trial of L-carnitine in Rett syndrome
|
Ellaway, Carolyn J
|
|
2001
|
|
S1 |
p. S85-S89
5 p.
|
artikel
|
| 63 |
Mind and brain in Rett disorder
|
Kerr, Alison M.
|
|
2001
|
|
S1 |
p. S44-S49
6 p.
|
artikel
|
| 64 |
Missense mutants inactivate guanosine triphosphate cyclohydrolase I in hereditary progressive dystonia
|
Ueno, Satoshi
|
|
2000
|
|
S1 |
p. 111-114
4 p.
|
artikel
|
| 65 |
Molecular-cytogenetic investigation of skewed chromosome X inactivation in Rett syndrome
|
Yurov, Yuri B.
|
|
2001
|
|
S1 |
p. S214-S217
4 p.
|
artikel
|
| 66 |
Molecular mechanisms of hereditary progressive dystonia with marked diurnal fluctuation, Segawa's disease
|
Ichinose, Hiroshi
|
|
2000
|
|
S1 |
p. 107-110
4 p.
|
artikel
|
| 67 |
Molecular neurobiological approach to the pathogenesis of epilepsy: a preliminary study
|
Xi-Ru, Wu
|
|
1995
|
|
S1 |
p. 73-76
4 p.
|
artikel
|
| 68 |
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
|
|
S1 |
p. S186-S190
5 p.
|
artikel
|
| 69 |
Music therapy as a tool for assessing hand use and communicativeness in children with Rett Syndrome
|
Wigram, Tony
|
|
2005
|
|
S1 |
p. S95-S96
2 p.
|
artikel
|
| 70 |
Music therapy for children with Rett syndrome
|
Yasuhara, Akihiro
|
|
2001
|
|
S1 |
p. S82-S84
3 p.
|
artikel
|
| 71 |
Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech
|
Yamashita, Yushiro
|
|
2001
|
|
S1 |
p. S157-S160
4 p.
|
artikel
|
| 72 |
Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome
|
Van den Veyver, Ignatia B.
|
|
2001
|
|
S1 |
p. S147-S151
5 p.
|
artikel
|
| 73 |
Neonatal neurology, past present and future A window on the brain
|
Dubowitz, Lilly M.S.
|
|
1995
|
|
S1 |
p. 22-30
9 p.
|
artikel
|
| 74 |
Neural circuits and topographic organization of the basal ganglia and related regions
|
Nakano, Katsuma
|
|
2000
|
|
S1 |
p. 5-16
12 p.
|
artikel
|
| 75 |
Neurobiology and neurochemistry of Rett syndrome
|
Matsuishi, Toyojiro
|
|
2001
|
|
S1 |
p. S58-S61
4 p.
|
artikel
|
| 76 |
Neurobiology of Rett syndrome: a genetic disorder of synapse development
|
Johnston, Michael V.
|
|
2001
|
|
S1 |
p. S206-S213
8 p.
|
artikel
|
| 77 |
Neurobiology of Tourette's syndrome: concepts of neuroanatomic localization and neurochemical abnormalities
|
Singer, Harvey S.
|
|
2003
|
|
S1 |
p. S70-S84
15 p.
|
artikel
|
| 78 |
Neuroimaging studies in Rett syndrome
|
Naidu, S.
|
|
2001
|
|
S1 |
p. S62-S71
10 p.
|
artikel
|
| 79 |
Neurology of Tourette's syndrome (TS) TS as a developmental dopamine disorder: a hypothesis
|
Nomura, Yoshiko
|
|
2003
|
|
S1 |
p. S37-S42
6 p.
|
artikel
|
| 80 |
Neuronal instability: implications for Rett's syndrome
|
Azmitia, Efrain C
|
|
2001
|
|
S1 |
p. S1-S10
10 p.
|
artikel
|
| 81 |
Neurons and neuronal systems involved in the pathophysiologies of Rett syndrome
|
Dunn, Henry G.
|
|
2001
|
|
S1 |
p. S99-S100
2 p.
|
artikel
|
| 82 |
Neurophysiology of Rett syndrome
|
Nomura, Yoshiko
|
|
2001
|
|
S1 |
p. S50-S57
8 p.
|
artikel
|
| 83 |
Neurophysiology of Tourette's syndrome: pathophysiological considerations
|
Segawa, Masaya
|
|
2003
|
|
S1 |
p. S62-S69
8 p.
|
artikel
|
| 84 |
Neurotransmitter changes in the pathophysiology of Lesch–Nyhan syndrome
|
Saito, Yoshiaki
|
|
2000
|
|
S1 |
p. 122-131
10 p.
|
artikel
|
| 85 |
Ontogeny and topography of seizure regulation by the substantia nigra
|
Moshé, Solomon L.
|
|
1995
|
|
S1 |
p. 61-72
12 p.
|
artikel
|
| 86 |
Oral Sessions
|
|
|
2004
|
|
S1 |
p. S21-S37
17 p.
|
artikel
|
| 87 |
Oxidative stress in Rett syndrome
|
Sierra, Cristina
|
|
2001
|
|
S1 |
p. S236-S239
4 p.
|
artikel
|
| 88 |
Pathophysiology of Rett syndrome from the stand point of clinical characteristics
|
Segawa, Masaya
|
|
2001
|
|
S1 |
p. S94-S98
5 p.
|
artikel
|
| 89 |
Pathophysiology of Tourette's syndrome: striatal pathways revisited
|
Saka, Esen
|
|
2003
|
|
S1 |
p. S15-S19
5 p.
|
artikel
|
| 90 |
Perturbations in the development of infants with Rett disorder and the implications for early diagnosis
|
Burford, Bronwen
|
|
2005
|
|
S1 |
p. S3-S7
5 p.
|
artikel
|
| 91 |
Phenomenology of tics and natural history of tic disorders
|
Leckman, James F.
|
|
2003
|
|
S1 |
p. S24-S28
5 p.
|
artikel
|
| 92 |
Possible pathways through which neurons of the shell of the nucleus accumbens influence the outflow of the core of the nucleus accumbens
|
Otake, Kazuyoshi
|
|
2000
|
|
S1 |
p. 17-26
10 p.
|
artikel
|
| 93 |
Poster Sessions
|
|
|
2004
|
|
S1 |
p. S38-S60
23 p.
|
artikel
|
| 94 |
Postnatal development of the dopaminergic neurons in the rat mesencephalon
|
Park, Masami
|
|
2000
|
|
S1 |
p. 38-44
7 p.
|
artikel
|
| 95 |
Predictive value of the early clinical signs in Rett disorder
|
Kerr, Alison M.
|
|
2005
|
|
S1 |
p. S20-S24
5 p.
|
artikel
|
| 96 |
Preface
|
|
|
2000
|
|
S1 |
p. vii-
1 p.
|
artikel
|
| 97 |
Preface
|
Segawa, Masaya
|
|
2001
|
|
S1 |
p. xi-
1 p.
|
artikel
|
| 98 |
Preface
|
Nomura, Yoshiko
|
|
2005
|
|
S1 |
p. S1-
1 p.
|
artikel
|
| 99 |
Preface
|
Segawa, Masaya
|
|
2003
|
|
S1 |
p. S1-S2
2 p.
|
artikel
|
| 100 |
Profile of Professor Yukio Fukuyama
|
Osawa, Makiko
|
|
1995
|
|
S1 |
p. 6-7
2 p.
|
artikel
|
| 101 |
R133C and R168X mutations in Japanese Rett syndrome patients: a caution for misdiagnosis
|
Amano, Kenji
|
|
2001
|
|
S1 |
p. S152-S156
5 p.
|
artikel
|
| 102 |
Reduced expression of neuropeptides can be related to respiratory disturbances in Rett syndrome
|
Saito, Yoshiaki
|
|
2001
|
|
S1 |
p. S122-S126
5 p.
|
artikel
|
| 103 |
Regulation of transcription and chromatin by methyl-CpG binding protein MBD1
|
Nakao, Mitsuyoshi
|
|
2001
|
|
S1 |
p. S174-S176
3 p.
|
artikel
|
| 104 |
REM sleep atonia: responsible brain regions, quantification, and clinical implication
|
Kohyama, Jun
|
|
2000
|
|
S1 |
p. 136-142
7 p.
|
artikel
|
| 105 |
Rethinking the fate of males with mutations in the gene that causes Rett syndrome
|
Schanen, Carolyn
|
|
2001
|
|
S1 |
p. S144-S146
3 p.
|
artikel
|
| 106 |
RETRACTED: Approach to ex vivo gene therapy in the treatment of Parkinson's disease
|
Ishida, Akihiko
|
|
2000
|
|
S1 |
p. 143-147
5 p.
|
artikel
|
| 107 |
Rett syndrome: clinical correlates of the newly discovered gene
|
Percy, Alan K
|
|
2001
|
|
S1 |
p. S202-S205
4 p.
|
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