T. B. Villemeur

发表

Microcephaly: a radiological review

C. Garel, D. Germanaud, C. Mignot, 2009, Pediatric Radiology.

Isolated corpus callosum agenesis: a ten‐year follow‐up after prenatal diagnosis (How are the children without corpus callosum at 10 years of age?)

C. Adamsbaum, A. Gelot, J. Feingold, 2012, Prenatal diagnosis.

GLUT1 deficiency syndrome: An update Mise au point sur le syndrome de déficit en transporteur du glucose GLUT1

M. Vidailhet, F. Mochel, E. Roze, 2018 .

Type 2 Gaucher disease: 15 new cases and review of the literature

C. Mignot, D. Doummar, I. Maire, 2006, Brain and Development.

Title: Recessive PRDM13 mutations cause severe brainstem dysfunction with perinatal lethality, cerebellar hypoplasia and disrupt Purkinje cell differentiation

C. Garel, N. Boddaert, A. Laquérriere, 2022 .

Non-accidental Injuries of the Brain and Spinal Cord

C. Adamsbaum, A. Vannier, M. Zérah, 2018 .

Iatrogenic Creutzfeldt-Jakob disease in three growth hormone recipients: a neuropathological study.

C. Duyckaerts, D. Dormont, A. Gelot, 1994, Neuropathology and applied neurobiology.

Metabolic pigmentary retinopathies: Diagnosis and therapeutic attempts

B. Poll-The, J. Saudubray, J. Dufier, 2005, European Journal of Pediatrics.

Using medical exome sequencing to identify the causes of neurodevelopmental disorders : experience of two clinical units and 216 patients Running title : Medical exome and NDD

C. Depienne, A. Afenjar, D. Cohen, 2017 .

Early neurological phenotype in 4 children with biallelic PRODH mutations

D. Campion, A. Afenjar, D. Rodriguez, 2007, Brain and Development.

The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers

P. Rustin, A. Legrand, A. Slama, 2004, European Journal of Human Genetics.

Dystonic tremor caused by mutation of the glucose transporter gene GLUT1

M. Vidailhet, R. Levy, V. Mesnage, 2011, Journal of Inherited Metabolic Disease.

Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory

W. Huttner, P. Gressens, S. Eliez, 2016, Cortex.

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

E. Christensen, N. Dorison, A. Lund, 2014, Human mutation.

Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum

M. Momtchilova, D. Heron, C. Mignot, 2013, Brain and Development.

Anne de Saint Martin, I. Scheffer, H. Mefford, 2019 .

A. Vanderver, H. Brunner, P. Fockens, 2019 .

Early development of occipital horns in a classical Menkes patient

M. Gerard-Blanluet, A. Gelot, T. Billette de Villemeur, 2004, American journal of medical genetics. Part A.

Monoamine neurotransmitters and movement disorders in children and adults.

Marie-Christine Nouguès, M. Louha, T. Billette de Villemeur, 2018, Revue neurologique.

Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families

A. Munnich, D. Bonneau, L. Viollet, 2004, European Journal of Human Genetics.

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

C. Depienne, A. Afenjar, D. Cohen, 2018, Clinical genetics.

Ultrastructural localization of cellular prion protein (PrPc) in synaptic boutons of normal hamster hippocampus.

T. Billette de Villemeur, J. Fournier, F. Escaig-Haye, 1995, Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie.

Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.

M. Vidailhet, A. Afenjar, J. Saudubray, 2008, Brain : a journal of neurology.

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

E. Christensen, N. Dorison, A. Lund, 2014, Human mutation.

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.

A. Munnich, D. Rabier, J. Saudubray, 2011, Molecular genetics and metabolism.

The Discrepancy between Performance-Based Measures and Questionnaires when Assessing Clinical Outcomes and Quality of Life in Pediatric Patients with Neurological Disorders

G. Dellatolas, T. Billette de Villemeur, H. Câmara-Costa, 2017, Applied neuropsychology. Child.

Andrew C. R. Martin, C. T. Porter, D. Lev, 2020 .

Correlation between pre‐ and postnatal cerebral magnetic resonance imaging

C. Garel, F. Chalard, E. Blondiaux, 2011, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

GLUT1 deficiency syndrome: an update.

M. Vidailhet, F. Mochel, E. Roze, 2014, Revue neurologique.

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

I Scala, Alain Verloes, M. Elmaleh, 2009, Neurology.

Prenatal ultrasonographic diagnosis of polymicrogyria

F. Dhombres, C. Garel, A. Gelot, 2008, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Perinatal‐lethal Gaucher disease

P. Josset, J. Roume, A. Gelot, 2003, American journal of medical genetics. Part A.

Aggregation of a subpopulation of vimentin filaments in cultured human skin fibroblasts derived from patients with giant axonal neuropathy.

J. Hauw, M. Basseville, P. Landrieu, 1996, Cell motility and the cytoskeleton.