Citation Impact
Citing Papers
Predominance of null mutations in ataxia-telangiectasia
1996
The connectivity of the area postrema in the ferret
1994
Nonmuscular involvement in merosin-negative congenital muscular dystrophy
2002
Functional Gastroduodenal Disorders
2006 Standout
Similarities in cyclic vomiting syndrome across age groups
2001
Mild Congenital Muscular Dystrophy in Two Patients with an Internally Deleted Laminin 2-Chain
1997
Neurocognitive Consequences of Sleep Deprivation
2009 Standout
Cell cycle checkpoint signaling through the ATM and ATR kinases
2001 Standout
Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency
2002
Ageing as a risk factor for neurodegenerative disease
2019 Standout
A critical role for histone H2AX in recruitment of repair factors to nuclear foci after DNA damage
2000 Standout
Immunogenicity of induced pluripotent stem cells
2011 StandoutNature
Prevalence of Muscular Dystrophies: A Systematic Literature Review
2014 Standout
Dissecting muscle and neuronal disorders in a Drosophila model of muscular dystrophy
2007 StandoutNobel
Pulmonary manifestations of neuromuscular disease with special reference to Duchenne muscular dystrophy and spinal muscular atrophy
2000
Cyclic Vomiting Syndrome in Adults: Clinical Features and Response to Tricyclic Antidepressants
1999
Genotype-Phenotype Relationships in Ataxia-Telangiectasia and Variants
1998
Chemotherapy-Induced Nausea and Vomiting
2008 Standout
Genes for normal sleep and sleep disorders
2005
U1 snRNP regulates cancer cell migration and invasion in vitro
2020 Standout
DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation
2003 StandoutNature
Childhood Functional Gastrointestinal Disorders: Child/Adolescent
2006 Standout
The expanding phenotype of laminin α2 chain (merosin) abnormalities: case series and review
2001
Ataxia-Telangiectasia:Closer to Unraveling the Mystery
1995
Epidemiology of Obstructive Sleep Apnea
2002 Standout
Sleep-disordered Breathing in Children
2001
The Global Burden of Headache: A Documentation of Headache Prevalence and Disability Worldwide
2007 Standout
ATM and ataxia telangiectasia
2004
The prognosis of childhood abdominal migraine
2001
Cyclic Vomiting Syndrome: Evolution in Our Understanding of a Brain-Gut Disorder
2000
About Sleep's Role in Memory
2013 Standout
Pathophysiology of Sleep Apnea
2010 Standout
Migraine Prevalence in Adolescents Aged 13–15: A Student Population‐Based Study in Taiwan
2000
Cellular and Molecular Regulation of Muscle Regeneration
2004 Standout
The Emergence of Modern Neuroscience: Some Implications for Neurology and Psychiatry
2000 StandoutNobel
Enhanced Phosphorylation of p53 by ATM in Response to DNA Damage
1998 StandoutScience
Functional characteristics of dystrophic skeletal muscle: insights from animal models
2002
Molecular Mechanisms of Mammalian DNA Repair and the DNA Damage Checkpoints
2004 StandoutNobel
ATAXIA-TELANGIECTASIA AND THE NIJMEGEN BREAKAGE SYNDROME: Related Disorders But Genes Apart
1997
Works of A. Ottolini being referenced
Hypersomnia in dystrophia myotonica: a neurophysiological and immunogenetic study
1991
Sleep related breathing patterns in patients with spinal muscular atrophy
1993
Breathing patterns and HbSaO2 changes during nocturnal sleep in patients with Duchenne muscular dystrophy
1989
Ataxia‐without‐telangiectasia in two sisters with rearrangements of chromosomes 7 and 14
1988
Clinical, Cytogenetic and Immunological Aspects in 4 Cases Resembling Ataxia Telangiectasia
1992
Cyclic Vomiting and Recurrent Abdominal Pains as Migraine or Epileptic Equivalents*
1983
Ataxia-Telangiectasia
1994
[Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis].
1996