E. Ollagnon

发表

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1

Hans H. Jung, C. Tilikete, M. Koenig, 2018, JAMA neurology.

Mini‐Exome Coupled to Read‐Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias

M. Koenig, P. Calvas, C. Geny, 2016, Human mutation.

[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations].

D. Hannequin, A. Toutain, V. Drouin‐Garraud, 2005, Revue neurologique.

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

V. Fraix, L. Kremer, M. Koenig, 2021, Genetics in Medicine.

Characterisation of 16 polymorphic markers in the NF2 gene: Application to hemizygosity detection

G. Thomas, M. Legrand, J. Zucman‐Rossi, 1999, Human mutation.

Mutations in the myelin protein zero gene associated with Charcot‐Marie‐Tooth disease type 1B

C. van Broeckhoven, D. Pham‐Dinh, G. Chazot, 1995, Human mutation.

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5

A. Durr, F. Lamari, G. Stevanin, 2018, Brain : a journal of neurology.

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

A. Destée, S. Klebe, A. Durr, 2012, Brain : a journal of neurology.

McKusik‐Kaufman syndrome: prenatal diagnosis, genetics and follow up

P. Gaucherand, C. Boisson, G. Yared, 2002, Prenatal diagnosis.

X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene

D. Pham‐Dinh, P. Latour, F. Sturtz, 1996, Human Genetics.

SIMPLE mutation analysis in dominant demyelinating Charcot‐Marie‐Tooth disease: three novel mutations

C. Stoll, P. Latour, T. Stojkovic, 2006, Journal of the peripheral nervous system : JPNS.

Prenatal microarray comparative genomic hybridization: Experience from the two first years of activity at the Lyon university-hospital.

P. Gaucherand, M. Massoud, M. Till, 2017, Journal of gynecology obstetrics and human reproduction.

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.

Janel O. Johnson, D. Hernandez, A. Singleton, 2011, Archives of neurology.

Dysferlin deficiency treated like refractory polymyositis

A. Laquérriere, P. Petiot, I. Marie, 2009, Clinical Rheumatology.

Molecular diagnosis of Charcot-Marie-Tooth 1A disease and hereditary neuropathy with liability to pressure palsies by quantifying CMT1A-REP sequences: consequences of recombinations at variant sites on chromosomes 17p11.2-12.

G. Chazot, J. Pouget, P. Latour, 1996, Clinical chemistry.

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

F. Magdinier, J. Pouget, N. Lévy, 2015, Orphanet Journal of Rare Diseases.

NF2 gene in neurofibromatosis type 2 patients.

F. Sor, G. Thomas, L. Cazes, 1998, Human molecular genetics.

Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention

F. Magdinier, N. Lévy, A. Echaniz-Laguna, 2020, International journal of molecular sciences.

Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population

G. Chazot, J. Pouget, N. Lévy, 1997, Neurogenetics.

NARP MITOCHONDRIOPATHY: AN UNUSUAL CAUSE OF PROGRESSIVE MYOCLONIC EPILEPSY

F. Mauguière, P. Ryvlin, E. Ollagnon, 2007, Neurology.

New mutations in the X-linked form of Charcot-Marie-Tooth disease.

D. Pham‐Dinh, G. Chazot, P. Calvas, 1997, European neurology.

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.

Janel O. Johnson, D. Hernandez, A. Singleton, 2011, Archives of Neurology.

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

A. Destée, S. Klebe, A. Durr, 2012, Brain : a journal of neurology.