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Neurology. Genetics|March 4, 2021
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromesStéphanie Bauché, Alain Sureau, Damien Sternberg, et al.
Neurology. Genetics|September 30, 2022
Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 VariantKento Matoba, Norio Chihara, Wataru Satake, et al.
Neurology. Genetics|April 12, 2016
CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth diseaseMari Auranen, Emil Ylikallio, Maria Shcherbii, et al.
Neurology. Genetics|April 12, 2016
Phenotypic and molecular analyses of primary lateral sclerosisHiroshi Mitsumoto, Peter L Nagy, Chris Gennings, et al.
Neurology. Genetics|April 12, 2016
Respiratory chain deficiency in nonmitochondrial diseaseAngela Pyle, Helen J Nightingale, Helen Griffin, et al.
Neurology. Genetics|April 12, 2016
Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson diseaseSuzanne Lesage, Jose Bras, Florence Cormier-Dequaire, et al.
Neurology. Genetics|April 12, 2016
Posterior reversible encephalopathy syndrome is not associated with mutations in aquaporin-4Marcelo Matiello, Rajanandini Muralidharan, David Sun, et al.
Neurology. Genetics|April 12, 2016
Alzheimer risk genes modulate the relationship between plasma apoE and cortical PiB bindingAndreas Lazaris, Kristy S Hwang, Naira Goukasian, et al.
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