-
Helman, G, Sharma, S, Crawford, J, Patra, B, Jain, P, Bent, S, Urtizberea, JA, Saran, RK, Taft, R, Van Der Knaap, M, et al.
Expanded Phenotype of GFPT1-related Disorder is a Mimicker of Mitochondrial Leukoencephalopathy (P4.6-049).
Neurology
92(15_supplement)
:
2019
view publication
-
Charsar, BA, Hamilton, EMC, Cross, Z, Sherbini, O, Kramer-Golinkoff, J, Simons, C, van der Knaap, MS, Vanderver, AL.
Classification of Mutations in TUBB4A: A New Spectrum of Disease (P1.6-031).
Neurology
92(15_supplement)
:
2019
view publication
-
Grassini, DR, da Silva, J, Hall, TE, Baillie, GJ, Simons, C, Parton, RG, Hogan, BM, Smith, KA.
Myosin Vb is required for correct trafficking of N-cadherin and cardiac chamber ballooning..
Dev Dyn
248(4)
:
284 -295
2019
view publication
-
van der Knaap, MS, Bugiani, M, Mendes, MI, Riley, LG, Smith, DEC, Rudinger-Thirion, J, Frugier, M, Breur, M, Crawford, J, van Gaalen, J, et al.
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy..
Neurology
92(11)
:
e1225 -e1237
2019
view publication
-
Helman, G, Sharma, S, Crawford, J, Patra, B, Jain, P, Bent, SJ, Urtizberea, JA, Saran, RK, Taft, RJ, van der Knaap, MS, et al.
Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome..
Neurology
92(6)
:
e587 -e593
2019
view publication