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Author/Creator Taylor, Robert W.

2. A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency. Issue 1 (8th November 2017)

Authors:
Malicdan, May Christine V.; Vilboux, Thierry; Ben‐Zeev, Bruria; Guo, Jennifer; Eliyahu, Aviva; Pode‐Shakked, Ben; Dori, Amir; Kakani, Sravan; Chandrasekharappa, Settara C.; Ferreira, Carlos R.; Shelestovich, Natalia; Marek‐Yagel, Dina; Pri‐Chen, Hadass; Blatt, Ilan; Niederhuber, John E.; He, Lang...
Journal:
Human mutation
Issue:
Volume 39:Issue 1(2018)
Page Start:
69
Record Type:
Journal Article
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5. Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy. Issue 2 (3rd January 2022)

Authors:
Magrinelli, Francesca; Cali, Elisa; Braga, Vinícius Lopes; Yis, Uluç; Tomoum, Hoda; Shamseldin, Hanan; Raiman, Julian; Kernstock, Christoph; Rezende Filho, Flávio Moura; Barsottini, Orlando Graziani Povoas; Taylor, Robert W.; Østergaard, Elsebet; Tamim, Abdullah; Schäferhoff, Karin; Sallum, Julia...
Journal:
Movement disorders clinical practice
Issue:
Volume 9:Issue 2(2022)
Page Start:
218
Record Type:
Journal Article
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7. Clinical and biochemical features associated with BCS1L mutation. Issue 5 (19th September 2012)

Authors:
Al‐Owain, Mohammed; Colak, Dilek; Albakheet, Albandary; Al‐Younes, Banan; Al‐Humaidi, Zainab; Al‐Sayed, Moeen; Al‐Hindi, Hindi; Al‐Sugair, Abdulaziz; Al‐Muhaideb, Ahmed; Rahbeeni, Zuhair; Al‐Sehli, Abdullah; Al‐Fadhli, Fatima; Ozand, Pinar T.; Taylor, Robert W.; Kaya, Namik
Journal:
Journal of inherited metabolic disease
Issue:
Volume 36:Issue 5(2013)
Page Start:
813
Record Type:
Journal Article
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8. Clinical presentation and proteomic signature of patients with TANGO2 mutations. Issue 2 (13th August 2019)

Authors:
Mingirulli, Nadja; Pyle, Angela; Hathazi, Denisa; Alston, Charlotte L.; Kohlschmidt, Nicolai; O'Grady, Gina; Waddell, Leigh; Evesson, Frances; Cooper, Sandra B. T.; Turner, Christian; Duff, Jennifer; Topf, Ana; Yubero, Delia; Jou, Cristina; Nascimento, Andrés; Ortez, Carlos; García‐Cazorla, Angel...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 2(2020)
Page Start:
297
Record Type:
Journal Article
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9. Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease. Issue 4 (7th February 2018)

Authors:
Bruni, Francesco; Di Meo, Ivano; Bellacchio, Emanuele; Webb, Bryn D.; McFarland, Robert; Chrzanowska‐Lightowlers, Zofia M.A.; He, Langping; Skorupa, Ewa; Moroni, Isabella; Ardissone, Anna; Walczak, Anna; Tyynismaa, Henna; Isohanni, Pirjo; Mandel, Hanna; Prokisch, Holger; Haack, Tobias; Bonnen, Pe...
Journal:
Human mutation
Issue:
Volume 39:Issue 4(2018)
Page Start:
563
Record Type:
Journal Article
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10. Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease. Issue 4 (7th February 2018)

Authors:
Bruni, Francesco; Di Meo, Ivano; Bellacchio, Emanuele; Webb, Bryn D.; McFarland, Robert; Chrzanowska‐Lightowlers, Zofia M.A.; He, Langping; Skorupa, Ewa; Moroni, Isabella; Ardissone, Anna; Walczak, Anna; Tyynismaa, Henna; Isohanni, Pirjo; Mandel, Hanna; Prokisch, Holger; Haack, Tobias; Bonnen, Pe...
Journal:
Human mutation
Issue:
Volume 39:Issue 4(2018)
Page Start:
563
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗