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Author
Arnold Münnich
also known as A Munnich, A Münnich, A. MUNNICH
Délégation Paris 5 · Hôpital Necker-Enfants Malades · Inserm · Université Paris Cité
About this author
Works
958
Cited by
67,597
h-index
130
i10
638
ORCID ↗
Top papers
Identification and characterization of a spinal muscular atrophy-determining gene
Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet, et al.
·
1995
·
Cell
↗ 3,957
OA
Lamin A Truncation in Hutchinson-Gilford Progeria
Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard, Pierre Cau, et al.
·
2003
·
Science
↗ 1,458
Biochemical and molecular investigations in respiratory chain deficiencies
Pierre Rustin, Dominique Chrétien, Thomas Bourgeron, et al.
·
1994
·
Clinica Chimica Acta
↗ 1,226
Hirschsprung disease, associated syndromes and genetics: a review
Jeanne Amiel, Eileen Sproat-Emison, M.‐M. Garcia‐Barceló, et al.
·
2007
·
Journal of Medical Genetics
↗ 1,198
OA
Correlation between severity and SMN protein level in spinal muscular atrophy
Suzie Lefebvre, Philippe Burlet, Qing Liu, et al.
·
1997
·
Nature Genetics
↗ 1,112
Defective myosin VIIA gene responsible for Usher syndrome type IB
Dominique Well, Stéphane Blanchard, Josseline Kaplan, et al.
·
1995
·
Nature
↗ 1,069
Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia
Agnès Rötig, Pascale de Lonlay, Dominique Chrétien, et al.
·
1997
·
Nature Genetics
↗ 989
Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis
Slaheddine Marrakchi, Philippe Guigue, Blair R. Renshaw, et al.
·
2011
·
New England Journal of Medicine
↗ 974
OA
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
Francis Rousseau, Jacky Bonaventure, Laurence Legeai‐Mallet, et al.
·
1994
·
Nature
↗ 931
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
Jeanne Amiel, Béatrice Laudier, Tania Attié‐Bitach, et al.
·
2003
·
Nature Genetics
↗ 854
OA
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling
Rainer Döffinger, Asma Smahi, Christine Bessia, et al.
·
2001
·
Nature Genetics
↗ 817
Mutations of the RET proto-oncogene in Hirschsprung's disease
Patrick Edery, Stanislas Lyonnet, Lois M. Mulligan, et al.
·
1994
·
Nature
↗ 755