Class information for:
Level 1: IGHMBP2//SMARD1//SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
32627 136 34.6 84%


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
351 3       GAP JUNCTION//CONNEXIN//OLIGODENDROCYTE 35607
1735 2             SPINAL MUSCULAR ATROPHY//CHARCOT MARIE TOOTH DISEASE//NEUROFILAMENT 6545
32627 1                   IGHMBP2//SMARD1//SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 136

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 IGHMBP2 authKW 3684265 14% 86% 19
2 SMARD1 authKW 3592418 12% 100% 16
3 SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS authKW 1122631 4% 100% 5
4 SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 authKW 935524 4% 83% 5
5 DSMA1 authKW 898105 3% 100% 4
6 DISTAL SPINAL MUSCULAR ATROPHY authKW 845266 6% 47% 8
7 DYNC1H1 authKW 801876 4% 71% 5
8 BICD2 authKW 718482 3% 80% 4
9 DOMINANT CONGENITAL SPINAL MUSCULAR ATROPHY authKW 673578 2% 100% 3
10 SMA LED authKW 673578 2% 100% 3

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 1444 45% 0% 61
2 Genetics & Heredity 557 27% 0% 37
3 Neurosciences 319 29% 0% 40
4 Pediatrics 178 13% 0% 18
5 Biochemistry & Molecular Biology 51 20% 0% 27
6 Cell & Tissue Engineering 7 1% 0% 1
7 Medicine, Research & Experimental 6 4% 0% 5
8 Cell Biology 2 4% 0% 6
9 Pathology 1 1% 0% 2
10 Critical Care Medicine 0 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 FEDERAT MED ENFANT 299367 1% 67% 2
2 BIOL CHIM PHARM 224526 1% 100% 1
3 CHR NANCY 224526 1% 100% 1
4 CHU 4 224526 1% 100% 1
5 CNRSL2C2 224526 1% 100% 1
6 EMI0005 224526 1% 100% 1
7 INSERM PARIS 224526 1% 100% 1
8 NEUROL UNITNEUROSCI SECT 224526 1% 100% 1
9 NEUROMUSCULAR UNITMOSSAKOWSKI MED 224526 1% 100% 1
10 NORTHCOTT NEUROSCI ANZAC MOL MED 224526 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 NEUROMUSCULAR DISORDERS 16135 10% 1% 13
2 AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS 3032 1% 1% 1
3 JOURNAL OF CHILD NEUROLOGY 1662 4% 0% 6
4 HUMAN MOLECULAR GENETICS 1467 6% 0% 8
5 BRAIN 1275 4% 0% 6
6 AMERICAN JOURNAL OF HUMAN GENETICS 1000 4% 0% 6
7 NEUROLOGY 850 7% 0% 9
8 EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY 811 1% 0% 2
9 JOURNAL OF MUSCULOSKELETAL & NEURONAL INTERACTIONS 720 1% 0% 1
10 GENES 529 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 IGHMBP2 3684265 14% 86% 19 Search IGHMBP2 Search IGHMBP2
2 SMARD1 3592418 12% 100% 16 Search SMARD1 Search SMARD1
3 SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1122631 4% 100% 5 Search SPINAL+MUSCULAR+ATROPHY+WITH+RESPIRATORY+DISTRESS Search SPINAL+MUSCULAR+ATROPHY+WITH+RESPIRATORY+DISTRESS
4 SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 935524 4% 83% 5 Search SPINAL+MUSCULAR+ATROPHY+WITH+RESPIRATORY+DISTRESS+TYPE+1 Search SPINAL+MUSCULAR+ATROPHY+WITH+RESPIRATORY+DISTRESS+TYPE+1
5 DSMA1 898105 3% 100% 4 Search DSMA1 Search DSMA1
6 DISTAL SPINAL MUSCULAR ATROPHY 845266 6% 47% 8 Search DISTAL+SPINAL+MUSCULAR+ATROPHY Search DISTAL+SPINAL+MUSCULAR+ATROPHY
7 DYNC1H1 801876 4% 71% 5 Search DYNC1H1 Search DYNC1H1
8 BICD2 718482 3% 80% 4 Search BICD2 Search BICD2
9 DOMINANT CONGENITAL SPINAL MUSCULAR ATROPHY 673578 2% 100% 3 Search DOMINANT+CONGENITAL+SPINAL+MUSCULAR+ATROPHY Search DOMINANT+CONGENITAL+SPINAL+MUSCULAR+ATROPHY
10 SMA LED 673578 2% 100% 3 Search SMA+LED Search SMA+LED

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 PORRO, F , RINCHETTI, P , MAGRI, F , RIBOLDI, G , NIZZARDO, M , SIMONE, C , ZANETTA, C , FARAVELLI, I , CORTI, S , (2014) THE WIDE SPECTRUM OF CLINICAL PHENOTYPES OF SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1: A SYSTEMATIC REVIEW.JOURNAL OF THE NEUROLOGICAL SCIENCES. VOL. 346. ISSUE 1-2. P. 35 -42 27 75% 5
2 ECKART, M , GUENTHER, UP , IDKOWIAK, J , VARON, R , GROLLE, B , BOFFI, P , VAN MALDERGEM, L , HUBNER, C , SCHUELKE, M , VON AU, K , (2012) THE NATURAL COURSE OF INFANTILE SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 (SMARD1).PEDIATRICS. VOL. 129. ISSUE 1. P. E148-E156 23 85% 14
3 COTTENIE, E , KOCHANSKI, A , JORDANOVA, A , BANSAGI, B , ZIMON, M , HORGA, A , JAUNMUKTANE, Z , SAVERI, P , RASIC, VM , BAETS, J , ET AL (2014) TRUNCATING AND MISSENSE MUTATIONS IN IGHMBP2 CAUSE CHARCOT-MARIE TOOTH DISEASE TYPE 2.AMERICAN JOURNAL OF HUMAN GENETICS. VOL. 95. ISSUE 5. P. 590 -601 28 64% 9
4 PEDURUPILLAY, CRJ , AMUNDSEN, SS , BAROY, T , RASMUSSEN, M , BLOMHOFF, A , STADHEIM, BF , ORSTAVIK, K , HOLMGREN, A , IQBAL, T , FRENGEN, E , ET AL (2016) CLINICAL AND MOLECULAR CHARACTERISTICS IN THREE FAMILIES WITH BIALLELIC MUTATIONS IN IGHMBP2.NEUROMUSCULAR DISORDERS. VOL. 26. ISSUE 9. P. 570 -575 21 81% 0
5 STALPERS, XL , VERRIPS, A , POLL-THE, BT , COBBEN, JM , SNOECK, IN , DE COO, IFM , BROOKS, A , BULK, S , GOOSKENS, R , FOCK, A , ET AL (2013) CLINICAL AND MUTATIONAL CHARACTERISTICS OF SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 IN THE NETHERLANDS.NEUROMUSCULAR DISORDERS. VOL. 23. ISSUE 6. P. 461-468 18 95% 4
6 VANOLI, F , RINCHETTI, P , PORRO, F , PARENTE, V , CORTI, S , (2015) CLINICAL AND MOLECULAR FEATURES AND THERAPEUTIC PERSPECTIVES OF SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1.JOURNAL OF CELLULAR AND MOLECULAR MEDICINE. VOL. 19. ISSUE 9. P. 2058 -2066 28 56% 2
7 HAMILTON, MJ , LONGMAN, C , O'HARA, A , KIRKPATRICK, M , MCWILLIAM, R , (2015) GROWING UP WITH SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS (SMARD1).NEUROMUSCULAR DISORDERS. VOL. 25. ISSUE 2. P. 169 -171 15 100% 3
8 SAN MILLAN, B , FERNANDEZ, JM , NAVARRO, C , REPARAZ, A , TEIJEIRA, S , (2016) SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 (SMARD1).CLINICAL NEUROPATHOLOGY. VOL. 35. ISSUE 2. P. 58 -65 17 74% 0
9 SHABABI, M , FENG, ZH , VILLALON, E , SIBIGTROTH, CM , OSMAN, EY , MILLER, MR , WILLIAMS-SIMON, PA , LOMBARDI, A , SASS, TH , ATKINSON, AK , ET AL (2016) RESCUE OF A MOUSE MODEL OF SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 BY AAV9-IGHMBP2 IS DOSE DEPENDENT.MOLECULAR THERAPY. VOL. 24. ISSUE 5. P. 855 -866 18 62% 1
10 PIERSON, TM , TART, G , ADAMS, D , TORO, C , GOLAS, G , TIFFT, C , GAHL, W , (2011) INFANTILE-ONSET SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS-1 DIAGNOSED IN A 20-YEAR-OLD MAN.NEUROMUSCULAR DISORDERS. VOL. 21. ISSUE 5. P. 353-355 13 100% 10

Classes with closest relation at Level 1


Rank Class id link
1 4018 SPINAL MUSCULAR ATROPHY//SMN//SURVIVAL MOTOR NEURON
2 1380 CHARCOT MARIE TOOTH DISEASE//PMP22//CHARCOT MARIE TOOTH
3 22273 ARSACS//AOA2//SENATAXIN
4 26203 MOTONEURON TRANSPLANTATION//INTRASPINAL MICROINJECTION//HUMAN SPINAL STEM CELLS
5 26805 WOBBLER MOUSE//T 588//WOBBLER
6 12695 EMAP II//CREAT INITIAT ARS NETWORK//MED BIOCONVERGENCE
7 4221 DYNEIN//AXONEME//FLAGELLA
8 9176 HEREDITARY SPASTIC PARAPLEGIA//SPASTIN//SPG4
9 12679 ARTHROGRYPOSIS//FREEMAN SHELDON SYNDROME//AMYOPLASIA
10 17286 SEIPIN//CONGENITAL GENERALIZED LIPODYSTROPHY//BSCL2

Go to start page