“Ears of the Lynx” MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

(2017) Christel Depienne et al.   HUMAN GENETICS

A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease

(2017) Rebecca Barmherzig et al.   PEDIATRIC NEUROLOGY

Clinical Manifestations Associated With the N-Terminal-Acetyltransferase NAA10 Gene Mutation in a Girl: Ogden Syndrome

(2017) Mandeep Sidhu et al.   PEDIATRIC NEUROLOGY

Clinical features and management of hereditary spastic paraplegia

(2017) Ingrid Faber et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

(2016) Elisabetta Flex et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygous variants inpyrroline-5-carboxylate reductase 2(PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy

(2016) Linyan Meng et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene

(2016) Rasim O. Rosti et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

(2016) Eleanna Kara et al.   BRAIN

Characterization of SPATA5 -related encephalopathy in early childhood

(2016) H. Kurata et al.   CLINICAL GENETICS

Spastizin mutation in hereditary spastic paraplegia with thin corpus callosum

(2016) Sanjiban Chakrabarty et al.   JOURNAL OF NEUROLOGY

Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia

(2016) Matthew J. Fraidakis et al.   Neurodegenerative Diseases

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48

(2014) Viviana Pensato et al.   BRAIN

Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene

(2014) Maria Pia Giannoccaro et al.   JOURNAL OF NEUROLOGY

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

(2014) Benoît Renvoisé et al.   Annals of Clinical and Translational Neurology

Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients

(2013) Susanne T de Bot et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

“Ears of the Lynx” Sign in a Marchiafava-Bignami patient: Structural Basis and Fiber-Tracking DTI Contribution to the Understanding of this Imaging Abnormality

(2012) Felipe Torres Pacheco et al.   JOURNAL OF NEUROIMAGING

Forceps Minor Region Signal Abnormality “Ears of the Lynx”: An Early MRI Finding in Spastic Paraparesis with Thin Corpus Callosum and Mutations in the Spatacsin Gene(SPG11)on Chromosome 15

(2009) M. Riverol et al.   JOURNAL OF NEUROIMAGING

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

(2009) C. Goizet et al.   NEUROLOGY

Considerations in determining sample size for pilot studies

(2008) Melody A. Hertzog   RESEARCH IN NURSING & HEALTH