Congenital distal spinal muscular atrophy (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Congenital distal spinal muscular atrophy" in English language version.

refsWebsite

Global rank English rank

9nih.gov

4^th place

8doi.org

2^nd place

3semanticscholar.org

11^th place

8^th place

doi.org

Oates EC, Reddel S, Rodriguez ML, et al. (June 2012). "Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells". Brain. 135 (Pt 6): 1714–23. doi:10.1093/brain/aws108. PMID 22628388.
Mercuri E, Messina S, Kinali M, et al. (February 2004). "Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study". Neuromuscul. Disord. 14 (2): 125–9. doi:10.1016/j.nmd.2003.09.005. PMID 14733958. S2CID 34825353.
Everaerts W, Nilius B, Owsianik G (September 2010). "The vanilloid transient receptor potential channel TRPV4: from structure to disease". Prog. Biophys. Mol. Biol. 103 (1): 2–17. doi:10.1016/j.pbiomolbio.2009.10.002. PMID 19835908.
Menezes MP, North KN (June 2012). "Inherited neuromuscular disorders: pathway to diagnosis". J Paediatr Child Health. 48 (6): 458–65. doi:10.1111/j.1440-1754.2011.02210.x. PMID 22050238.
Auer-Grumbach M, Olschewski A, Papić L, et al. (February 2010). "Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C". Nat. Genet. 42 (2): 160–4. doi:10.1038/ng.508. PMC 3272392. PMID 20037588.
Fiorillo C, Moro F, Brisca G, et al. (August 2012). "TRPV4 mutations in children with congenital distal spinal muscular atrophy". Neurogenetics. 13 (3): 195–203. doi:10.1007/s10048-012-0328-7. PMID 22526352. S2CID 14428057.
Dai J, Cho TJ, Unger S, et al. (July 2010). "TRPV4-pathy, a novel channelopathy affecting diverse systems". J. Hum. Genet. 55 (7): 400–2. doi:10.1038/jhg.2010.37. PMID 20505684.
Farmer SE, James M (September 2001). "Contractures in orthopaedic and neurological conditions: a review of causes and treatment". Disabil Rehabil. 23 (13): 549–58. doi:10.1080/09638280010029930. PMID 11451189. S2CID 22732753.

nih.gov

pubmed.ncbi.nlm.nih.gov

Oates EC, Reddel S, Rodriguez ML, et al. (June 2012). "Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells". Brain. 135 (Pt 6): 1714–23. doi:10.1093/brain/aws108. PMID 22628388.
Mercuri E, Messina S, Kinali M, et al. (February 2004). "Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study". Neuromuscul. Disord. 14 (2): 125–9. doi:10.1016/j.nmd.2003.09.005. PMID 14733958. S2CID 34825353.
Everaerts W, Nilius B, Owsianik G (September 2010). "The vanilloid transient receptor potential channel TRPV4: from structure to disease". Prog. Biophys. Mol. Biol. 103 (1): 2–17. doi:10.1016/j.pbiomolbio.2009.10.002. PMID 19835908.
Menezes MP, North KN (June 2012). "Inherited neuromuscular disorders: pathway to diagnosis". J Paediatr Child Health. 48 (6): 458–65. doi:10.1111/j.1440-1754.2011.02210.x. PMID 22050238.
Auer-Grumbach M, Olschewski A, Papić L, et al. (February 2010). "Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C". Nat. Genet. 42 (2): 160–4. doi:10.1038/ng.508. PMC 3272392. PMID 20037588.
Fiorillo C, Moro F, Brisca G, et al. (August 2012). "TRPV4 mutations in children with congenital distal spinal muscular atrophy". Neurogenetics. 13 (3): 195–203. doi:10.1007/s10048-012-0328-7. PMID 22526352. S2CID 14428057.
Dai J, Cho TJ, Unger S, et al. (July 2010). "TRPV4-pathy, a novel channelopathy affecting diverse systems". J. Hum. Genet. 55 (7): 400–2. doi:10.1038/jhg.2010.37. PMID 20505684.
Farmer SE, James M (September 2001). "Contractures in orthopaedic and neurological conditions: a review of causes and treatment". Disabil Rehabil. 23 (13): 549–58. doi:10.1080/09638280010029930. PMID 11451189. S2CID 22732753.

ncbi.nlm.nih.gov

Auer-Grumbach M, Olschewski A, Papić L, et al. (February 2010). "Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C". Nat. Genet. 42 (2): 160–4. doi:10.1038/ng.508. PMC 3272392. PMID 20037588.

semanticscholar.org

api.semanticscholar.org

Mercuri E, Messina S, Kinali M, et al. (February 2004). "Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study". Neuromuscul. Disord. 14 (2): 125–9. doi:10.1016/j.nmd.2003.09.005. PMID 14733958. S2CID 34825353.
Fiorillo C, Moro F, Brisca G, et al. (August 2012). "TRPV4 mutations in children with congenital distal spinal muscular atrophy". Neurogenetics. 13 (3): 195–203. doi:10.1007/s10048-012-0328-7. PMID 22526352. S2CID 14428057.
Farmer SE, James M (September 2001). "Contractures in orthopaedic and neurological conditions: a review of causes and treatment". Disabil Rehabil. 23 (13): 549–58. doi:10.1080/09638280010029930. PMID 11451189. S2CID 22732753.