A. Gelot

发表

Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.

Renzo Guerrini, Valerio Conti, Carmen Barba, 2019, Human molecular genetics.

A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome

Y. Berwald‐Netter, P. Billuart, A. Koulakoff, 1998, Cell.

Gaucher disease

A. Gelot, C. Mignot, T. D. de Villemeur, 2013 .

Inborn error of amino acid synthesis: Human glutamine synthetase deficiency

A. Toutain, F. Schliess, D. Häussinger, 2006, Journal of Inherited Metabolic Disease.

Developmental aspects of type II lissencephaly

G. Ponsot, A. Gelot, T. Billette de Villemeur, 1994, Acta Neuropathologica.

Disruption of the transcription factor NEUROD2 causes an autism syndrome via cell-autonomous defects in cortical projection neurons

J. Rosenfeld, A. Represa, B. Jacq, 2020 .

Abnormal shape of the cavum septi pellucidi: an indirect sign of partial agenesis of the corpus callosum

C. Garel, A. Gelot, O. Shen, 2015, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series

C. Garel, A. Gelot, E. Blondiaux, 2015, Prenatal diagnosis.

Prenatal features of isolated subependymal pseudocysts associated with adverse pregnancy outcome

C. Garel, A. Gelot, E. Audureau, 2015, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Agenesis of corpus callosum: prenatal diagnosis and prognosis

C. Adamsbaum, G. Ponsot, A. Gelot, 2003, Child's Nervous System.

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

I. Helbig, B. Kennedy, A. Gelot, 2022, bioRxiv.

Apoptosis in the Central Nervous System of Cerebral Adrenoleukodystrophy Patients

C. Daumas-Duport, A. Gelot, P. Casanova, 2000, Neurobiology of Disease.

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.

Variability of T1-weighted signal intensity of pericallosal lipomas in the fetus

C. Garel, A. Gelot, E. Blondiaux, 2018, Pediatric Radiology.

Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.

E. Bertini, D. Pham‐Dinh, R. Surtees, 2001, American journal of human genetics.

New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes

A. Sureau, J. Rendu, B. Eymard, 2020, Neurology: Genetics.

Congenital glutamine deficiency with glutamine synthetase mutations.

A. Toutain, F. Schliess, D. Häussinger, 2005, The New England journal of medicine.

Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.

C. Duyckaerts, A. Durr, F. Lamari, 2019, Brain : a journal of neurology.

Perinatal‐lethal Gaucher disease

P. Josset, J. Roume, A. Gelot, 2003, American Journal of Medical Genetics. Part A.

Neurologie fœtale : situations d'incertitude diagnostique

G. Ponsot, A. Gelot, C. Mignot, 2006 .

Widespread distribution of β-hexosaminidase activity in the brain of a Sandhoff mouse model after coinjection of adenoviral vector and mannitol

A. Orlacchio, C. Emiliani, A. Gelot, 2003, Gene Therapy.

Dominant form of vanishing white matter–like leukoencephalopathy

P. Cozzone, F. Nicoli, D. Rodriguez, 2005, Annals of neurology.

Mitochondrial dysfunction caused by novel ATAD3A mutations.

T. Wai, A. Gelot, N. Dorison, 2020, Molecular genetics and metabolism.

Polymicrogyria with Dysmorphic Neurons in a Patient with SNCA2 Mutation.

A. Represa, A. Gelot, B. Keren, 2022, Journal of neuropathology and experimental neurology.

In mice and humans, brain microvascular contractility matures postnatally

P. Mailly, A. Rancillac, M. Cohen-Salmon, 2022, Brain Structure and Function.

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 .

Astrocytic Demise in the Developing Rat and Human Brain after Hypoxic-Ischemic Damage

S. Villapol, A. Gelot, C. Charriaut-Marlangue, 2009, Developmental Neuroscience.

Dysregulation of the NRG1-ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

T. Molina, H. Smeets, R. Hofstra, 2021, The Journal of clinical investigation.

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

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

Measles Sclerosing Subacute PanEncephalitis (SSPE), an intriguing and ever-present disease: Data, assumptions and new perspectives.

J. Casanova, A. Gelot, J. Hauw, 2021, Revue neurologique.

COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage

C. Aloui, A. Leutenegger, A. Gelot, 2022, Prenatal diagnosis.

Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons

J. Rosenfeld, A. Represa, B. Jacq, 2021, Molecular Psychiatry.

Alexander disease: putative mechanisms of an astrocytic encephalopathy

D. Pham‐Dinh, D. Rodriguez, O. Boespflug-Tanguy, 2004, Cellular and Molecular Life Sciences CMLS.

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

S. Gabriel, J. Casanova, E. Dikoglu, 2015, Nature Genetics.

Corpus Callosum Abnormalities and Short Femurs in Beckwith–Wiedemann Syndrome: A Report of Two Fetal Cases

A. Gelot, M. Vekemans, T. Attié-Bitach, 2018, Fetal and pediatric pathology.

Demyelinating peripheral neuropathy associated with hemophagocytic lymphohistiocytosis. An immuno-electron microscopic study

P. Sindou, J. Vallat, G. Ponsot, 2004, Acta Neuropathologica.

Progression of Fetal Brain Lesions in Tuberous Sclerosis Complex

A. Represa, A. Gelot, 2020, Frontiers in Neuroscience.

A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A.

A. Represa, C. Pellegrino, E. Buhler, 2012, Human molecular genetics.

Magnetic resonance imaging of the fetal brain.

C. Adamsbaum, A. Gelot, S. Ferey, 2002, Journal of neuroradiology. Journal de neuroradiologie.

In mice and humans, the brain’s blood vessels mature postnatally to acquire barrier and contractile properties

P. Mailly, A. Rancillac, M. Cohen-Salmon, 2021, bioRxiv.

Phenotypic variation in leukoencephalopathy with vanishing white matter.

D. Rodriguez, A. Gelot, 1999, Neurology.

Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases

D. Pham‐Dinh, D. Rodriguez, G. Ponsot, 1999, Acta Neuropathologica.

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.

Novel neuronal proteolipid protein isoforms encoded by the human myelin proteolipid protein 1 gene

C. Vaurs-Barrière, O. Boespflug-Tanguy, A. Gelot, 2010, Neuroscience.

Megalencephalic leukoencephalopathy with subcortical cysts is a developmental disorder of the gliovascular unit

M. Tanter, A. Rancillac, M. Cohen-Salmon, 2021, bioRxiv.

PROGRESSIVE MEGALENCEPHALY DUE TO SPECIFIC EIF2Bε MUTATIONS IN TWO UNRELATED FAMILIES

D. Rodriguez, G. Ponsot, O. Boespflug-Tanguy, 2007, Neurology.

Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families.

D. Rodriguez, G. Ponsot, O. Boespflug-Tanguy, 2007, Neurology.

Complex alternative splicing of the myelin oligodendrocyte glycoprotein gene is unique to human and non‐human primates

D. Pham‐Dinh, D. Rodriguez, A. Gelot, 2006, Journal of neurochemistry.

Autosomal dominant leukodystrophy and childhood ataxia with central nervous system hypomyelination syndrome

D. Rodriguez, O. Boespflug-Tanguy, A. Gelot, 2006, Annals of neurology.

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation.

C. Garel, N. Boddaert, J. Baptista, 2022, American journal of human genetics.

Periventricular nodular heterotopia on prenatal ultrasound and magnetic resonance imaging

C. Garel, A. Gelot, E. Blondiaux, 2013, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Developmental patterns of fetal fat and corresponding signal on T1-weighted magnetic resonance imaging

F. Dhombres, C. Garel, A. Gelot, 2018, Pediatric Radiology.

X‐linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): Clinical, magnetic resonance imaging, and neuropathological findings

Stéphane Marret, Dominique Bonneau, Diana Rodriguez, 2002, Annals of neurology.

Developmental change of α-spectrin mRNA in the rat brain

M. Khrestchatisky, A. Gelot, H. Pollard, 1994 .

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

I. Gut, M. Bayés, J. Melki, 2014, Human molecular genetics.

Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly

A. Gelot, S. Chantot-Bastaraud, J. Siffroi, 2017, Clinical genetics.

[Agenesis of the corpus callosum. Neuropathologic study and physiopathologic hypotheses].

A. Gelot, A. Pompidou, C. Moraine, 1998, Neuro-Chirurgie.