Class information for:
Level 1: DOPA RESPONSIVE DYSTONIA//CEREBRAL FOLATE DEFICIENCY//SEGAWA DISEASE

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
18043 569 27.6 72%


Bar chart of Publication_year

Last years might be incomplete

Hierarchy of classes
The table includes all classes above and classes immediately below the current class.


Cluster id Level Cluster label #P
11 4 NEUROSCIENCES//CLINICAL NEUROLOGY//NEUROL 1112395
124 3       PARKINSONS DISEASE//MOVEMENT DISORDERS//DEEP BRAIN STIMULATION 67777
1818 2             DYSTONIA//TETRAHYDROBIOPTERIN//WRITERS CRAMP 6225
18043 1                   DOPA RESPONSIVE DYSTONIA//CEREBRAL FOLATE DEFICIENCY//SEGAWA DISEASE 569

Terms with highest relevance score


rank Term termType Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 DOPA RESPONSIVE DYSTONIA authKW 3469143 14% 81% 80
2 CEREBRAL FOLATE DEFICIENCY authKW 755951 3% 78% 18
3 SEGAWA DISEASE authKW 566819 2% 81% 13
4 HEREDITARY PROGRESSIVE DYSTONIA authKW 541108 2% 92% 11
5 SEGAWA SYNDROME authKW 482974 2% 100% 9
6 GTP CYCLOHYDROLASE I GENE authKW 429310 1% 100% 8
7 GCH1 authKW 344964 3% 43% 15
8 AROMATIC L AMINO ACID DECARBOXYLASE DEFICIENCY authKW 343445 1% 80% 8
9 GCH1 GENE authKW 328689 1% 88% 7
10 TYROSINE HYDROXYLASE DEFICIENCY authKW 264185 1% 62% 8

Web of Science journal categories


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 Clinical Neurology 10611 59% 0% 335
2 Pediatrics 945 15% 0% 84
3 Genetics & Heredity 907 18% 0% 100
4 Neurosciences 543 20% 0% 113
5 Medicine, Research & Experimental 494 12% 0% 68
6 Endocrinology & Metabolism 330 10% 0% 59
7 Medical Laboratory Technology 156 3% 0% 17
8 Psychiatry 90 6% 0% 32
9 Primary Health Care 11 1% 0% 3
10 Medicine, General & Internal 6 3% 0% 19

Address terms


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 CLIN CHEM BIOCHEM 131269 7% 6% 38
2 MOVEMENT DISORDERS R211 107328 0% 100% 2
3 CIBER ER BIOMED NETWORK RARE DIS 68993 1% 43% 3
4 AGIA SOFIA HOSP 60368 1% 38% 3
5 FEDERAT NERVOUS SYST DIS 60368 1% 38% 3
6 HUMAN NEUROCHEM PATHOL 60356 2% 13% 9
7 ATLANTA NEUROL ASSOC 53664 0% 100% 1
8 BIOSCIENTIA MED DIAGNOST 53664 0% 100% 1
9 BRAIN SCIHUASHAN HOSP 53664 0% 100% 1
10 CARDIOVASC MED AMSTERDAM 53664 0% 100% 1

Journals


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 MOLECULAR GENETICS AND METABOLISM 12513 5% 1% 27
2 JOURNAL OF INHERITED METABOLIC DISEASE 10645 5% 1% 30
3 NEUROPEDIATRICS 8546 3% 1% 18
4 MOVEMENT DISORDERS 7886 5% 0% 31
5 NEUROLOGY 7361 9% 0% 54
6 NEUROTRANSMITTER INTERACTIONS AND COGNITIVE FUNCTION 6706 0% 13% 1
7 ANNALS OF NEUROLOGY 6180 5% 0% 30
8 BRAIN & DEVELOPMENT 4253 3% 0% 17
9 PEDIATRIC NEUROLOGY 2833 3% 0% 15
10 DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY 2209 2% 0% 14

Author Key Words


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class		 LCSH search Wikipedia search
1 DOPA RESPONSIVE DYSTONIA 3469143 14% 81% 80 Search DOPA+RESPONSIVE+DYSTONIA Search DOPA+RESPONSIVE+DYSTONIA
2 CEREBRAL FOLATE DEFICIENCY 755951 3% 78% 18 Search CEREBRAL+FOLATE+DEFICIENCY Search CEREBRAL+FOLATE+DEFICIENCY
3 SEGAWA DISEASE 566819 2% 81% 13 Search SEGAWA+DISEASE Search SEGAWA+DISEASE
4 HEREDITARY PROGRESSIVE DYSTONIA 541108 2% 92% 11 Search HEREDITARY+PROGRESSIVE+DYSTONIA Search HEREDITARY+PROGRESSIVE+DYSTONIA
5 SEGAWA SYNDROME 482974 2% 100% 9 Search SEGAWA+SYNDROME Search SEGAWA+SYNDROME
6 GTP CYCLOHYDROLASE I GENE 429310 1% 100% 8 Search GTP+CYCLOHYDROLASE+I+GENE Search GTP+CYCLOHYDROLASE+I+GENE
7 GCH1 344964 3% 43% 15 Search GCH1 Search GCH1
8 AROMATIC L AMINO ACID DECARBOXYLASE DEFICIENCY 343445 1% 80% 8 Search AROMATIC+L+AMINO+ACID+DECARBOXYLASE+DEFICIENCY Search AROMATIC+L+AMINO+ACID+DECARBOXYLASE+DEFICIENCY
9 GCH1 GENE 328689 1% 88% 7 Search GCH1+GENE Search GCH1+GENE
10 TYROSINE HYDROXYLASE DEFICIENCY 264185 1% 62% 8 Search TYROSINE+HYDROXYLASE+DEFICIENCY Search TYROSINE+HYDROXYLASE+DEFICIENCY

Core articles
The table includes core articles in the class. The following variables is taken into account for the relevance score of an article in a cluster c:
(1) Number of references referring to publications in the class.
(2) Share of total number of active references referring to publications in the class.
(3) Age of the article. New articles get higher score than old articles.
(4) Citation rate, normalized to year.


Rank Reference # ref.
in cl.		 Shr. of ref. in
cl.		 Citations
1 WIJEMANNE, S , JANKOVIC, J , (2015) DOPA-RESPONSIVE DYSTONIA-CLINICAL AND GENETIC HETEROGENEITY.NATURE REVIEWS NEUROLOGY. VOL. 11. ISSUE 7. P. 414 -424 86 83% 6
2 LEE, WW , JEON, BS , (2014) CLINICAL SPECTRUM OF DOPA-RESPONSIVE DYSTONIA AND RELATED DISORDERS.CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS. VOL. 14. ISSUE 7. P. - 62 79% 8
3 NG, J , PAPANDREOU, A , HEALES, SJ , KURIAN, MA , (2015) MONOAMINE NEUROTRANSMITTER DISORDERS-CLINICAL ADVANCES AND FUTURE PERSPECTIVES.NATURE REVIEWS NEUROLOGY. VOL. 11. ISSUE 10. P. 567 -584 56 51% 7
4 WASSENBERG, T , MOLERO-LUIS, M , JELTSCH, K , HOFFMANN, GF , ASSMANN, B , BLAU, N , GARCIA-CAZORLA, A , ARTUCH, R , PONS, R , PEARSON, TS , ET AL (2017) CONSENSUS GUIDELINE FOR THE DIAGNOSIS AND TREATMENT OF AROMATIC L-AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY.ORPHANET JOURNAL OF RARE DISEASES. VOL. 12. ISSUE . P. - 36 67% 0
5 MENCACCI, NE , ISAIAS, IU , REICH, MM , GANOS, C , PLAGNOL, V , POLKE, JM , BRAS, J , HERSHESON, J , STAMELOU, M , PITTMAN, AM , ET AL (2014) PARKINSON'S DISEASE IN GTP CYCLOHYDROLASE 1 MUTATION CARRIERS.BRAIN. VOL. 137. ISSUE . P. 2480 -2492 30 65% 25
6 KURIAN, MA , GISSEN, P , SMITH, M , HEALES, SJR , CLAYTON, PT , (2011) THE MONOAMINE NEUROTRANSMITTER DISORDERS: AN EXPANDING RANGE OF NEUROLOGICAL SYNDROMES.LANCET NEUROLOGY. VOL. 10. ISSUE 8. P. 721 -733 36 50% 62
7 WILLEMSEN, MA , VERBEEK, MM , KAMSTEEG, EJ , DE RIJK-VAN ANDEL, JF , AEBY, A , BLAU, N , BURLINA, A , DONATI, MA , GEURTZ, B , GRATTAN-SMITH, PJ , ET AL (2010) TYROSINE HYDROXYLASE DEFICIENCY: A TREATABLE DISORDER OF BRAIN CATECHOLAMINE BIOSYNTHESIS.BRAIN. VOL. 133. ISSUE . P. 1810 -1822 29 69% 38
8 FURUKAWA, Y , (2003) GENETICS AND BIOCHEMISTRY OF DOPA-RESPONSIVE DYSTONIA: SIGNIFICANCE OF STRIATAL TYROSINE HYDROXYLASE PROTEIN LOSS.PARKINSON'S DISEASE. VOL. 91. ISSUE . P. 401-410 38 68% 19
9 CAO, L , ZHENG, L , TANG, WG , XIAO, Q , ZHANG, T , TANG, HD , HE, SB , WANG, XJ , DING, JQ , CHEN, SD , (2010) FOUR NOVEL MUTATIONS IN THE GCH1 GENE OF CHINESE PATIENTS WITH DOPA-RESPONSIVE DYSTONIA.MOVEMENT DISORDERS. VOL. 25. ISSUE 6. P. 755-760 25 86% 4
10 CLOT, F , GRABLI, D , CAZENEUVE, C , ROZE, E , CASTELNAU, P , CHABROL, B , LANDRIEU, P , NGUYEN, K , PONSOT, G , ABADA, M , ET AL (2009) EXHAUSTIVE ANALYSIS OF BH4 AND DOPAMINE BIOSYNTHESIS GENES IN PATIENTS WITH DOPA-RESPONSIVE DYSTONIA.BRAIN. VOL. 132. ISSUE . P. 1753 -1763 23 79% 47

Classes with closest relation at Level 1


Rank Class id link
1 4393 TETRAHYDROBIOPTERIN//GTP CYCLOHYDROLASE I//SEPIAPTERIN REDUCTASE
2 1271 DYSTONIA//WRITERS CRAMP//DYT1
3 20804 PYRIDOXINE DEPENDENT EPILEPSY//PYRIDOXINE DEPENDENT SEIZURES//ALDH7A1
4 19073 AROMATIC L AMINO ACID DECARBOXYLASE//L DOPA DECARBOXYLASE//DOPA DECARBOXYLASE
5 9156 PHENYLALANINE HYDROXYLASE//AROMATIC AMINO ACID HYDROXYLASE//TRYPTOPHAN HYDROXYLASE
6 15144 PAROXYSMAL KINESIGENIC DYSKINESIA//PRRT2//PAROXYSMAL DYSKINESIA
7 32780 AS AGU RAT//MOVEMENT DISORDERS//PAROXYSMAL CHOREOATHETOSIS
8 8489 I 123 FP CIT//VASCULAR PARKINSONISM//DOPAMINE TRANSPORTER
9 28022 SERINE BIOSYNTHESIS//SERINE DEFICIENCY//3 PHOSPHOGLYCERATE DEHYDROGENASE
10 26562 ALTERNATING HEMIPLEGIA OF CHILDHOOD//HOT WATER EPILEPSY//ALTERNATING HEMIPLEGIA

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