Class information for:
Level 1: PERRAULT SYNDROME//HOLMES ATAXIA//BOUCHER NEUHAUSER SYNDROME

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
34928 104 23.9 46%


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
0 4 BIOCHEMISTRY & MOLECULAR BIOLOGY//CELL BIOLOGY//ONCOLOGY 4064930
603 3       HUNTINGTONS DISEASE//SPINOCEREBELLAR ATAXIA//POLYGLUTAMINE 14359
1711 2             SPINOCEREBELLAR ATAXIA//HEREDITARY SPASTIC PARAPLEGIA//FRIEDREICHS ATAXIA 6674
34928 1                   PERRAULT SYNDROME//HOLMES ATAXIA//BOUCHER NEUHAUSER SYNDROME 104

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 PERRAULT SYNDROME authKW 3385165 13% 82% 14
2 HOLMES ATAXIA authKW 880835 3% 100% 3
3 BOUCHER NEUHAUSER SYNDROME authKW 660625 3% 75% 3
4 PERRAULT SYNDROME TYPE 3 authKW 587223 2% 100% 2
5 RETINOCHOROIDAL DEGENERATION authKW 391481 2% 67% 2
6 BOUCHER NEUHAUSER authKW 293612 1% 100% 1
7 CEPEBELLAR ATAXIA authKW 293612 1% 100% 1
8 COINCIDENTAL SYNDROME authKW 293612 1% 100% 1
9 FAMILIAL GONADAL DYSGENESIS authKW 293612 1% 100% 1
10 HARS2 authKW 293612 1% 100% 1

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 Genetics & Heredity 299 23% 0% 24
2 Clinical Neurology 270 23% 0% 24
3 Medicine, General & Internal 219 22% 0% 23
4 Endocrinology & Metabolism 51 10% 0% 10
5 Pediatrics 40 8% 0% 8
6 Surgery 20 10% 0% 10
7 Psychiatry 11 5% 0% 5
8 Obstetrics & Gynecology 10 4% 0% 4
9 Religion 5 1% 0% 1
10 Social Sciences, Biomedical 4 1% 0% 1

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 OTORHINOLARYNGOL PEDIAT 293612 1% 100% 1
2 BRISTOL GENET PATHOL SCI 146805 1% 50% 1
3 GENOM COMPUTAT BIOL CORE 97869 1% 33% 1
4 MED GENET MOL BIOL UNIT 90339 2% 15% 2
5 CLIN RADIOBIOL SECT 73401 1% 25% 1
6 LUZERNER KANTONSSPITAL 58721 1% 20% 1
7 REG REFERRAL INBORN ERRORS METAB 48934 1% 17% 1
8 IST BIOIMMAGINI FISIOPATOL SISTEMA NERVOSO CENT 41943 1% 14% 1
9 BIOMED SCI BMS 36700 1% 13% 1
10 PRINCESS AL JAWHARA ALBRAHIM EXCELLENCE H 33552 2% 6% 2

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 ZEITSCHRIFT FUR KLINISCHE MEDIZIN-ZKM 6030 4% 1% 4
2 AMERICAN JOURNAL OF MEDICAL GENETICS 3353 10% 0% 10
3 WIENER MEDIZINISCHE WOCHENSCHRIFT 1957 2% 0% 2
4 CLINICAL NEUROLOGY AND NEUROSURGERY 1658 5% 0% 5
5 BALKAN JOURNAL OF MEDICAL GENETICS 1357 1% 0% 1
6 SOVETSKAYA MEDITSINA 1039 3% 0% 3
7 JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY 1004 1% 0% 1
8 ZEITSCHRIFT FUR EVANGELISCHE ETHIK 967 1% 0% 1
9 JOURNAL OF MEDICAL GENETICS 807 4% 0% 4
10 OPHTHALMIC PAEDIATRICS AND GENETICS 771 1% 0% 1

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 PERRAULT SYNDROME 3385165 13% 82% 14 Search PERRAULT+SYNDROME Search PERRAULT+SYNDROME
2 HOLMES ATAXIA 880835 3% 100% 3 Search HOLMES+ATAXIA Search HOLMES+ATAXIA
3 BOUCHER NEUHAUSER SYNDROME 660625 3% 75% 3 Search BOUCHER+NEUHAUSER+SYNDROME Search BOUCHER+NEUHAUSER+SYNDROME
4 PERRAULT SYNDROME TYPE 3 587223 2% 100% 2 Search PERRAULT+SYNDROME+TYPE+3 Search PERRAULT+SYNDROME+TYPE+3
5 RETINOCHOROIDAL DEGENERATION 391481 2% 67% 2 Search RETINOCHOROIDAL+DEGENERATION Search RETINOCHOROIDAL+DEGENERATION
6 BOUCHER NEUHAUSER 293612 1% 100% 1 Search BOUCHER+NEUHAUSER Search BOUCHER+NEUHAUSER
7 CEPEBELLAR ATAXIA 293612 1% 100% 1 Search CEPEBELLAR+ATAXIA Search CEPEBELLAR+ATAXIA
8 COINCIDENTAL SYNDROME 293612 1% 100% 1 Search COINCIDENTAL+SYNDROME Search COINCIDENTAL+SYNDROME
9 FAMILIAL GONADAL DYSGENESIS 293612 1% 100% 1 Search FAMILIAL+GONADAL+DYSGENESIS Search FAMILIAL+GONADAL+DYSGENESIS
10 HARS2 293612 1% 100% 1 Search HARS2 Search HARS2

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 GEORGOPOULOS, NA , PAPAPETROPOULOS, S , CHRONI, E , PAPADEAS, ES , DIMOPOULOS, PA , KYRIAZOPOULOU, V , DAVIS, MB , EUNSON, L , KOUROUNIS, G , TZINGOUNIS, VA , (2004) SPINOCEREBELLAR ATAXIA AND HYPERGONADOTROPIC HYPOGONADISM ASSOCIATED WITH FAMILIAL SENSORINEURAL HEARING LOSS.GYNECOLOGICAL ENDOCRINOLOGY. VOL. 19. ISSUE 2. P. 105-110 14 93% 2
2 KATE, MP , KESAVADAS, C , NAIR, M , KRISHNAN, S , SOMAN, M , SINGH, A , (2011) LATE-ONSET BOUCHER-NEUHAUSER SYNDROME (LATE BNS) ASSOCIATED WITH WHITE-MATTER CHANGES: A REPORT OF TWO CASES AND REVIEW OF LITERATURE.JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. VOL. 82. ISSUE 8. P. 888 -891 9 100% 2
3 ROBIN, G , JONARD, S , VUILLAUME, I , DEVOS, D , DEWAILLY, D , (2005) HYPOGONADOTROPIC HYPOGONADISM DISCOVERED IN A PATIENT WITH CEREBELLAR ATAXIA.ANNALES D ENDOCRINOLOGIE. VOL. 66. ISSUE 6. P. 545-551 11 92% 3
4 ERDEMOGLU, AK , AKBOSTANCI, MC , SELCUKI, D , (2000) FAMILIAL CEREBELLAR ATAXIA AND HYPOGONADISM ASSOCIATED WITH SENSORIMOTOR AXONAL POLYNEUROPATHY.CLINICAL NEUROLOGY AND NEUROSURGERY. VOL. 102. ISSUE 3. P. 129-134 9 100% 7
5 LERAT, J , JONARD, L , LOUNDON, N , CHRISTIN-MAITRE, S , LACOMBE, D , GOIZET, C , ROUZIER, C , VAN MALDERGEM, L , GHERBI, S , GARABEDIAN, EN , ET AL (2016) AN APPLICATION OF NGS FOR MOLECULAR INVESTIGATIONS IN PERRAULT SYNDROME: STUDY OF 14 FAMILIES AND REVIEW OF THE LITERATURE.HUMAN MUTATION. VOL. 37. ISSUE 12. P. 1354 -1362 14 39% 1
6 AMOR, DJ , DELATYCKI, MB , GARDNER, RJM , STOREY, E , (2001) NEW VARIANT OF FAMILIAL CEREBELLAR ATAXIA WITH HYPERGONADOTROPIC HYPOGONADISM AND SENSORINEURAL DEAFNESS.AMERICAN JOURNAL OF MEDICAL GENETICS. VOL. 99. ISSUE 1. P. 29-33 8 100% 13
7 DEIK, A , JOHANNES, B , RUCKER, JC , SANCHEZ, E , BRODIE, SE , DEEGAN, E , LANDY, K , KAJIWARA, Y , SCELSA, S , SAUNDERS-PULLMAN, R , ET AL (2014) COMPOUND HETEROZYGOUS PNPLA6 MUTATIONS CAUSE BOUCHER-NEUHAUSER SYNDROME WITH LATE-ONSET ATAXIA.JOURNAL OF NEUROLOGY. VOL. 261. ISSUE 12. P. 2411 -2423 11 46% 6
8 JACOB, JJ , PAUL, TV , MATHEWS, SS , THOMAS, N , (2007) PERRAULT SYNDROME WITH MARFANOID HABITUS IN TWO SIBLINGS.JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY. VOL. 20. ISSUE 5. P. 305-308 6 100% 5
9 TARNUTZER, AA , GERTH-KAHLERT, C , TIMMANN, D , CHANG, DI , HARMUTH, F , BAUER, P , STRAUMANN, D , SYNOFZIK, M , (2015) BOUCHER-NEUHAUSER SYNDROME: CEREBELLAR DEGENERATION, CHORIORETINAL DYSTROPHY AND HYPOGONADOTROPIC HYPOGONADISM: TWO NOVEL CASES AND A REVIEW OF 40 CASES FROM THE LITERATURE.JOURNAL OF NEUROLOGY. VOL. 262. ISSUE 1. P. 194 -202 7 64% 2
10 AGRAWALA, RK , CHOUDHURY, AK , MOHANTY, BK , BALIARSINHA, AK , (2015) PERRAULT SYNDROME WITH GROWTH HORMONE DEFICIENCY: A RARE AUTOSOMAL RECESSIVE DISORDER.JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. VOL. 28. ISSUE 9-10. P. 1005 -1007 5 83% 3

Classes with closest relation at Level 1


Rank Class id link
1 30096 MARINESCO SJOGREN SYNDROME//SIL1//WARBURG MICRO SYNDROME
2 10084 PREMATURE OVARIAN FAILURE//PRIMARY OVARIAN INSUFFICIENCY//PREMATURE MENOPAUSE
3 11174 KALLMANN SYNDROME//PROKINETICIN//HYPOGONADOTROPIC HYPOGONADISM
4 12695 EMAP II//CREAT INITIAT ARS NETWORK//MED BIOCONVERGENCE
5 11157 NEUROPATHY TARGET ESTERASE//OPIDN//NEUROPATHY TARGET ESTERASE NTE
6 18172 RHOMBENCEPHALOSYNAPSIS//PONTOCEREBELLAR HYPOPLASIA//CEREBELLAR AGENESIS
7 26478 GAPO SYNDROME//ICHTHYOSIS FOLLICULARIS//IFAP SYNDROME
8 27186 CHOANOFLAGELLATES//ACANTHOECIDA//LORICA ASSEMBLY
9 2557 SPINOCEREBELLAR ATAXIA//MACHADO JOSEPH DISEASE//SCA2
10 31527 CARDIOVASCULAR DISEASES IN OLDER PATIENTS//ENGAGEMENT LEVEL//EXERCISE INTEGRATED WITH VIDEO GAME

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