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American Journal of Human Genetics|May 22, 2012
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosageKatherine R Smith, John Damiano, Silvana Franceschetti, et al.
American Journal of Human Genetics|August 9, 2011
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosisLenka Nosková, Viktor Stránecký, Hana Hartmannová, et al.
Neurology|July 15, 2016
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)Samuel F Berkovic, John F Staropoli, Stirling Carpenter, et al.
Human Molecular Genetics|January 9, 2013
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosisKatherine R Smith, Hans-Henrik M Dahl, Laura Canafoglia, et al.
Human Molecular Genetics|November 26, 2013
Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathwayXenia Lojewski, John F Staropoli, Sunita Biswas-Legrand, et al.
Science Translational Medicine|April 14, 2017
Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosisMichael E Ward, Robert Chen, Hsin-Yi Huang, et al.
Neuromuscular Disorders : NMD|November 10, 2019
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE studyDarryl C De Vivo, Enrico Bertini, Kathryn J Swoboda, et al.
European Journal of Human Genetics : EJHG|March 12, 2015
Redefining the MED13L syndromeAbidemi Adegbola, Luciana Musante, Bert Callewaert, et al.
Plos One|June 16, 2012
Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous systemJohn F Staropoli, Larissa Haliw, Sunita Biswas, et al.
Science (New York, N.Y.)|February 21, 2015
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathwaysElizabeth T Cirulli, Brittany N Lasseigne, Slavé Petrovski, et al.
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