Class information for:
Level 1: MARINESCO SJOGREN SYNDROME//SIL1//WARBURG MICRO SYNDROME

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
30096 174 24.3 68%


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
30096 1                   MARINESCO SJOGREN SYNDROME//SIL1//WARBURG MICRO SYNDROME 174

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 MARINESCO SJOGREN SYNDROME authKW 4264432 16% 90% 27
2 SIL1 authKW 1943901 7% 92% 12
3 WARBURG MICRO SYNDROME authKW 1744583 7% 76% 13
4 MICRO SYNDROME authKW 1074882 4% 88% 7
5 RAB3GAP1 authKW 1021036 5% 73% 8
6 SIL1 GENE authKW 701965 2% 100% 4
7 FINE LUBINSKY SYNDROME authKW 526474 2% 100% 3
8 MARINESCO SJOGREN SYNDROME MSS authKW 526474 2% 100% 3
9 MARTSOLF SYNDROME authKW 526474 2% 100% 3
10 MARINESCO SJOGREN authKW 350983 1% 100% 2

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 1670 41% 0% 71
2 Clinical Neurology 992 33% 0% 58
3 Medical Ethics 238 2% 0% 4
4 Pediatrics 227 13% 0% 23
5 Neurosciences 128 18% 0% 31
6 Otorhinolaryngology 113 6% 0% 10
7 Ophthalmology 63 6% 0% 10
8 Neuroimaging 53 2% 0% 4
9 Pathology 34 5% 0% 8
10 Medicine, Research & Experimental 26 6% 0% 10

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 AMBULATORIUM WIENTAL 175491 1% 100% 1
2 CLIN NUCL MED RADIOTHER Y 175491 1% 100% 1
3 COMPETENCE BIOSCI 175491 1% 100% 1
4 DIPARTIMENTO SCI ANAT ISTOL MEDICOLEGALI PARA 175491 1% 100% 1
5 EMBRYO GENE EXP S PATTERNS 175491 1% 100% 1
6 FOLKHALSAN GENET NEUROSCI 175491 1% 100% 1
7 INSERMU1021UMR 3347 175491 1% 100% 1
8 JULICH AACHEN ALLIANCE JARA BRAIN TRANSLAT ME 175491 1% 100% 1
9 KLIN PADIATRIE NEUROL 175491 1% 100% 1
10 MED BIOCHEM GENET IMBG 175491 1% 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 CLINICAL DYSMORPHOLOGY 5659 3% 1% 6
2 GENETIC COUNSELING 2976 2% 0% 4
3 INTERNATIONAL JOURNAL OF HUMAN GENETICS 2771 1% 1% 2
4 ORPHANET JOURNAL OF RARE DISEASES 2522 2% 0% 4
5 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2456 5% 0% 9
6 NEUROPEDIATRICS 2156 3% 0% 5
7 PEDIATRIC NEUROLOGY 1486 3% 0% 6
8 NEUROMUSCULAR DISORDERS 1188 2% 0% 4
9 JOURNAL OF MEDICAL GENETICS 1084 3% 0% 6
10 NATURE GENETICS 880 3% 0% 5

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 MARINESCO SJOGREN SYNDROME 4264432 16% 90% 27 Search MARINESCO+SJOGREN+SYNDROME Search MARINESCO+SJOGREN+SYNDROME
2 SIL1 1943901 7% 92% 12 Search SIL1 Search SIL1
3 WARBURG MICRO SYNDROME 1744583 7% 76% 13 Search WARBURG+MICRO+SYNDROME Search WARBURG+MICRO+SYNDROME
4 MICRO SYNDROME 1074882 4% 88% 7 Search MICRO+SYNDROME Search MICRO+SYNDROME
5 RAB3GAP1 1021036 5% 73% 8 Search RAB3GAP1 Search RAB3GAP1
6 SIL1 GENE 701965 2% 100% 4 Search SIL1+GENE Search SIL1+GENE
7 FINE LUBINSKY SYNDROME 526474 2% 100% 3 Search FINE+LUBINSKY+SYNDROME Search FINE+LUBINSKY+SYNDROME
8 MARINESCO SJOGREN SYNDROME MSS 526474 2% 100% 3 Search MARINESCO+SJOGREN+SYNDROME+MSS Search MARINESCO+SJOGREN+SYNDROME+MSS
9 MARTSOLF SYNDROME 526474 2% 100% 3 Search MARTSOLF+SYNDROME Search MARTSOLF+SYNDROME
10 MARINESCO SJOGREN 350983 1% 100% 2 Search MARINESCO+SJOGREN Search MARINESCO+SJOGREN

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 SLAVOTINEK, A , GOLDMAN, J , WEISIGER, K , KOSTINER, D , GOLABI, M , PACKMAN, S , WILCOX, W , HOYME, HE , SHERR, E , (2005) MARINESCO-SJOGREN SYNDROME IN A MALE WITH MILD DYSMORPHISM.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 133A. ISSUE 2. P. 197-201 27 96% 10
2 LAGIER-TOURENNE, C , TRANEBJAERG, L , CHAIGNE, D , GRIBAA, M , DOLLFUS, H , SILVESTRI, G , BETARD, C , WARTER, JM , KOENIG, M , (2003) HOMOZYGOSITY MAPPING OF MARINESCO-SJOGREN SYNDROME TO 5Q31.EUROPEAN JOURNAL OF HUMAN GENETICS. VOL. 11. ISSUE 10. P. 770-778 32 80% 30
3 HORVERS, M , ANTTONEN, AK , LEHESJOKI, AE , MORAVA, E , WORTMANN, S , VERMEER, S , VAN DE WARRENBURG, BP , WILLEMSEN, MA , (2013) MARINESCO-SJOGREN SYNDROME DUE TO SIL1 MUTATIONS WITH A COMMENT ON THE CLINICAL PHENOTYPE.EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. VOL. 17. ISSUE 2. P. 199-203 16 94% 8
4 MERLINI, L , GOODING, R , LOCHMULLER, H , MULLER-FELBER, W , WALTER, MC , ANGELICHEVA, D , TALIM, B , HALLMAYER, J , KALAYDJIEVA, L , (2002) GENETIC IDENTITY OF MARINESCO-SJOGREN/MYOGLOBINURIA AND CCFDN SYNDROMES.NEUROLOGY. VOL. 58. ISSUE 2. P. 231-236 23 88% 21
5 HANDLEY, MT , MORRIS-ROSENDAHL, DJ , BROWN, S , MACDONALD, F , HARDY, C , BEM, D , CARPANINI, SM , BORCK, G , MARTORELL, L , IZZI, C , ET AL (2013) MUTATION SPECTRUM IN RAB3GAP1, RAB3GAP2, AND RAB18 AND GENOTYPEPHENOTYPE CORRELATIONS IN WARBURG MICRO SYNDROME AND MARTSOLF SYNDROME.HUMAN MUTATION. VOL. 34. ISSUE 5. P. 686-696 23 51% 27
6 YIS, U , CIRAK, S , HIZ, S , CAKMAKCI, H , DIRIK, E , (2011) HETEROGENEITY OF MARINESCO-SJOGREN SYNDROME: REPORT OF TWO CASES.PEDIATRIC NEUROLOGY. VOL. 45. ISSUE 6. P. 409-411 14 100% 1
7 REINHOLD, A , SCHEER, L , LEHMANN, R , NEUMANN, LM , MICHAEL, T , VARON, R , VON MOERS, A , (2003) MR IMAGING FEATURES IN MARINESCO-SJOGREN SYNDROME: SEVERE CEREBELLAR ATROPHY IS NOT AN OBLIGATORY FINDING.AMERICAN JOURNAL OF NEURORADIOLOGY. VOL. 24. ISSUE 5. P. 825-828 19 90% 8
8 GOTO, M , OKADA, M , KOMAKI, H , SUGAI, K , SASAKI, M , NOGUCHI, S , NONAKA, I , NISHINO, I , HAYASHI, YK , (2014) A NATIONWIDE SURVEY ON MARINESCO-SJOGREN SYNDROME IN JAPAN.ORPHANET JOURNAL OF RARE DISEASES. VOL. 9. ISSUE . P. - 12 92% 4
9 SAKAI, K , TADA, M , YONEMOCHI, Y , NAKAJIMA, T , ONODERA, O , TAKAHASHI, H , KAKITA, A , (2008) MARINESCO-SJOGREN SYNDROME WITH ATROPHY OF THE BRAIN STEM TEGMENTUM AND DYSPLASTIC CYTOARCHITECTURE IN THE CEREBRAL CORTEX.NEUROPATHOLOGY. VOL. 28. ISSUE 5. P. 541 -546 14 88% 4
10 LAGIER-TOURENNE, C , CHAIGNE, D , GONG, J , FLORI, J , MOHR, M , RUH, D , CHRISTMANN, D , FLAMENT, J , MANDEL, JL , KOENIG, M , ET AL (2002) LINKAGE TO 18QTER DIFFERENTIATES TWO CLINICALLY OVERLAPPING SYNDROMES: CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY (CCFDN) SYNDROME AND MARINESCO-SJOGREN SYNDROME.JOURNAL OF MEDICAL GENETICS. VOL. 39. ISSUE 11. P. 838-843 17 81% 13

Classes with closest relation at Level 1


Rank Class id link
1 34928 PERRAULT SYNDROME//HOLMES ATAXIA//BOUCHER NEUHAUSER SYNDROME
2 35375 ORP150//OXYGEN REGULATED PROTEIN 150//150 KD OXYGEN REGULATED PROTEIN
3 22273 ARSACS//AOA2//SENATAXIN
4 33304 COMPUTER ASSISTED DIAGNOSIS COMPUTER AIDED//CONGENITAL MALFORMATION SYNDROMES//DYSMORPHOLOGY DATABASE
5 27286 PAROXYSMAL SYMPATHETIC HYPERACTIVITY//SHAPIROS SYNDROME//SYMPATHETIC STORM
6 16562 ANOPHTHALMIA//NANOPHTHALMOS//MICROPHTHALMIA
7 26340 COHEN SYNDROME//CHORIORETINAL DYSPLASIA//COH1
8 37662 NALCN//ABNORMAL RESPIRATORY RHYTHM//ADDIC MENTAL HLTH
9 2031 RAB//RAB PROTEINS//RAB27A
10 6152 DNAJ//DNAK//GRPE

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