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Author/Creator Livingston, John H.

1. Autosomal‐dominant early‐onset spastic paraparesis with brain calcification due to IFIH1 gain‐of‐function. Issue 8 (4th June 2018)

Authors:
Ruaud, Lyse; Rice, Gillian I.; Cabrol, Christelle; Piard, Juliette; Rodero, Mathieu; van Eyk, Lien; Boucher‐Brischoux, Elise; de Noordhout, Alain Maertens; Maré, Ricardo; Scalais, Emmanuel; Pauly, Fernand; Debray, François‐Guillaume; Dobyns, William; Uggenti, Carolina; Park, Ji Woo; Hur, Sun; Liv...
Journal:
Human mutation
Issue:
Volume 39:Issue 8(2018)
Page Start:
1076
Record Type:
Journal Article
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2. Cerebral hypomyelination associated with biallelic variants of FIG4. Issue 5 (28th February 2019)

Authors:
Lenk, Guy M.; Berry, Ian R.; Stutterd, Chloe A.; Blyth, Moira; Green, Lydia; Vadlamani, Gayatri; Warren, Daniel; Craven, Ian; Fanjul‐Fernandez, Miriam; Rodriguez‐Casero, Victoria; Lockhart, Paul J.; Vanderver, Adeline; Simons, Cas; Gibb, Susan; Sadedin, Simon; White, Susan M.; Christodoulou, John...
Journal:
Human mutation
Issue:
Volume 40:Issue 5(2019)
Page Start:
619
Record Type:
Journal Article
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3. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. (16th January 2015)

Authors:
Crow, Yanick J.; Chase, Diana S.; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M.A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel‐Hamid, Mohamed S.; Abdel‐Salam, Ghada M.; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Cath...
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 2(2015:Feb.)
Page Start:
296
Record Type:
Journal Article
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4. Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome. (July 2016)

Authors:
Tonduti, Davide; Orcesi, Simona; Jenkinson, Emma M.; Dorboz, Imen; Renaldo, Florence; Panteghini, Celeste; Rice, Gillian I.; Henneke, Marco; Livingston, John H.; Elmaleh, Monique; Burglen, Lydie; Willemsen, Michèl A.A.P.; Chiapparini, Luisa; Garavaglia, Barbara; Rodriguez, Diana; Boespflug-Tanguy...
Journal:
European journal of paediatric neurology
Issue:
Volume 20:Number 4(2016:Jul.)
Page Start:
604
Record Type:
Journal Article
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5. Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition. (September 2015)

Authors:
Vanderver, Adeline; Prust, Morgan; Kadom, Nadja; Demarest, Scott; Crow, Yanick J.; Helman, Guy; Orcesi, Simona; Piana, Roberta La; Uggetti, Carla; Wang, Jichuan; Gordisch-Dressman, Heather; van der Knaap, Marjo S.; Livingston, John H.
Journal:
Journal of child neurology
Issue:
Volume 30:Number 10(2015:Sep.)
Page Start:
1343
Record Type:
Journal Article
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6. Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function. Issue 4 (14th January 2020)

Authors:
Rice, Gillian I.; Park, Sehoon; Gavazzi, Francesco; Adang, Laura A.; Ayuk, Loveline A.; Van Eyck, Lien; Seabra, Luis; Barrea, Christophe; Battini, Roberta; Belot, Alexandre; Berg, Stefan; Billette de Villemeur, Thierry; Bley, Annette E.; Blumkin, Lubov; Boespflug‐Tanguy, Odile; Briggs, Tracy A.; ...
Journal:
Human mutation
Issue:
Volume 41:Issue 4(2020)
Page Start:
837
Record Type:
Journal Article
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7. RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum. Issue 1 (8th December 2019)

Authors:
Mendes, Marisa I.; Green, Lydia M. C.; Bertini, Enrico; Tonduti, Davide; Aiello, Chiara; Smith, Desiree; Salsano, Ettore; Beerepoot, Shanice; Hertecant, Jozef; von Spiczak, Sarah; Livingston, John H.; Emrick, Lisa; Fraser, Jamie; Russell, Laura; Bernard, Genevieve; Magri, Stefania; Di Bella, Dani...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 7:Issue 1(2020)
Page Start:
83
Record Type:
Journal Article
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8. Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification. Issue 5 (6th April 2015)

Authors:
Lemos, Roberta R.; Ramos, Eliana M.; Legati, Andrea; Nicolas, Gaël; Jenkinson, Emma M.; Livingston, John H.; Crow, Yanick J.; Campion, Dominique; Coppola, Giovanni; Oliveira, João R. M.
Journal:
Human mutation
Issue:
Volume 36:Issue 5(2015:May)
Page Start:
489
Record Type:
Journal Article
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