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Connection

Co-Authors

This is a "connection" page, showing publications co-authored by Susan Blaser and Grace Yoon.

 
Connection Strength
 
 
 
2.263
 
  1. Blaser SI, Steinlin M, Al-Maawali A, Yoon G. The Pediatric Cerebellum in Inherited Neurodegenerative Disorders: A Pattern-recognition Approach. Neuroimaging Clin N Am. 2016 Aug; 26(3):373-416.
    View in: PubMed
    Score: 0.697
  2. Nimmo GAM, Venkatesh S, Pandey AK, Marshall CR, Hazrati LN, Blaser S, Ahmed S, Cameron J, Singh K, Ray PN, Suzuki CK, Yoon G. Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy. Hum Mol Genet. 2019 01 15; 28(2):290-306.
    View in: PubMed
    Score: 0.207
  3. O'Brien A, Marshall CR, Blaser S, Ray PN, Yoon G. Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB. Eur J Hum Genet. 2017 06; 25(6):775-778.
    View in: PubMed
    Score: 0.183
  4. Al-Maawali A, Yoon G, Feigenbaum AS, Halliday WC, Clarke JT, Branson HM, Banwell BL, Chitayat D, Blaser SI. Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis. Neuroradiology. 2016 Oct; 58(10):1035-1042.
    View in: PubMed
    Score: 0.175
  5. Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Dürr A, Brice A, Lévy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, Desvignes JP, Roëckel-Trevisiol N, Scherer SW, Rouleau GA, Mégarbané A, Isaya G, Delague V, Yoon G. PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Brain. 2015 Jun; 138(Pt 6):1505-17.
    View in: PubMed
    Score: 0.159
  6. Al-Maawali A, Blaser S, Zhao XY, Yoon G. Prospective study of activities of daily living outcomes in children with cerebellar atrophy. Dev Med Child Neurol. 2014 May; 56(5):460-7.
    View in: PubMed
    Score: 0.143
  7. Al-Maawali AA, Miller E, Schulze A, Yoon G, Blaser SI. Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a). Pediatr Radiol. 2014 Feb; 44(2):222-5.
    View in: PubMed
    Score: 0.143
  8. Al-Maawali A, Blaser S, Yoon G. Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients. J Child Neurol. 2012 Sep; 27(9):1121-32.
    View in: PubMed
    Score: 0.131
  9. Miller E, Widjaja E, Nilsson D, Yoon G, Banwell B, Blaser S. Magnetic resonance imaging of a unique mutation in a family with Pelizaeus-Merzbacher disease. . 2010 Mar; 152A(3):748-52.
    View in: PubMed
    Score: 0.112
  10. Trakadis Y, Blaser S, Hahn CD, Yoon G. A case report of prenatal exposure to rosuvastatin and telmisartan. Paediatr Child Health. 2009 Sep; 14(7):450-2.
    View in: PubMed
    Score: 0.108
  11. Yoon G, Rosenberg J, Blaser S, Rauen KA. Neurological complications of cardio-facio-cutaneous syndrome. Dev Med Child Neurol. 2007 Dec; 49(12):894-9.
    View in: PubMed
    Score: 0.096
  12. van der Welle REN, Jobling R, Burns C, Sanza P, van der Beek JA, Fasano A, Chen L, Zwartkruis FJ, Zwakenberg S, Griffin EF, Ten Brink C, Veenendaal T, Liv N, van Ravenswaaij-Arts CMA, Lemmink HH, Pfundt R, Blaser S, Sepulveda C, Lozano AM, Yoon G, Santiago-Sim T, Asensio CS, Caldwell GA, Caldwell KA, Chitayat D, Klumperman J. Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation. EMBO Mol Med. 2021 May 07; 13(5):e13258.
    View in: PubMed
    Score: 0.060
  13. Hannah-Shmouni F, MacNeil L, Potter M, Jobling R, Yoon G, Laughlin S, Blaser S, Inbar-Feigenberg M. Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B. Mol Genet Metab Rep. 2019 Mar; 18:11-13.
    View in: PubMed
    Score: 0.051
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.