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M. Kinali · SciRah

Researcher profile · Semantic Scholar

M. Kinali

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M. Kinali — researcher profile on SciRah

h-index: 46
Works: 151
Citations: 5,836

Most-cited papers

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
C. Godfrey, E. Clement, R. Mein, M. Brockington +18 more
2007Brain : a journal of neurology410 citations Open access
Semantic Scholar
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study
M. Kinali, V. Arechavala-Gomeza, Lucy H. Feng, S. Çırak +21 more
2009Lancet Neurology233 citations Open access
Semantic Scholar
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
V. Salpietro, C. Dixon, Hui Guo, O. Bello +234 more
2019Nature Communications227 citations Open access
Semantic Scholar
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Hai-Yan Zhou, H. Jungbluth, C. Sewry, Lucy H. Feng +18 more
2007Brain : a journal of neurology175 citations Open access
Semantic Scholar
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation
E. Clement, E. Mercuri, C. Godfrey, Janine Smith +18 more
2008Annals of Neurology171 citations Open access
Semantic Scholar
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy
E. Mercuri, E. Bertini, S. Messina, A. Solari +21 more
2007Neurology166 citations
Semantic Scholar
Comparative Analysis of Antisense Oligonucleotide Sequences for Targeted Skipping of Exon 51 During Dystrophin Pre-mRNA Splicing in Human Muscle
V. Arechavala-Gomeza, I. Graham, L. Popplewell, A. Adams +7 more
2007Human Gene Therapy158 citations Open access
Semantic Scholar
Update on the management of Duchenne muscular dystrophy
A. Manzur, M. Kinali, F. Muntoni
2008Archives of Disease in Childhood153 citations
Semantic Scholar
Muscle histology vs MRI in Duchenne muscular dystrophy
M. Kinali, V. Arechavala-Gomeza, S. Çırak, A. Glover +19 more
2011Neurology152 citations Open access
Semantic Scholar
Natural history of Ullrich congenital muscular dystrophy
A. Nadeau, M. Kinali, M. Main, C. Jimenez-Mallebrera +7 more
2009Neurology151 citations
Semantic Scholar
Congenital myasthenic syndromes in childhood: diagnostic and management challenges.
M. Kinali, D. Beeson, M. Pitt, H. Jungbluth +10 more
2008Journal of Neuroimmunology139 citations
Semantic Scholar
Feeding problems and malnutrition in spinal muscular atrophy type II.
S. Messina, M. Pane, P. De Rose, I. Vasta +7 more
2008Neuromuscular Disorders135 citations
Semantic Scholar
A Comparative Study of α‐Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α‐Dystroglycan Does Not Consistently Correlate with Clinical Severity
C. Jimenez-Mallebrera, S. Torelli, Lucy H. Feng, Jihee Kim +15 more
2009Brain Pathology121 citations Open access
Semantic Scholar
Feeding problems and weight gain in Duchenne muscular dystrophy.
M. Pane, I. Vasta, S. Messina, D. Sorleti +6 more
2006European journal of paediatric neurology110 citations
Semantic Scholar
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials.
V. Arechavala-Gomeza, M. Kinali, Lucy H. Feng, M. Guglieri +9 more
2010Neuromuscular Disorders94 citations Open access
Semantic Scholar
Immunohistological intensity measurements as a tool to assess sarcolemma‐associated protein expression
V. Arechavala-Gomeza, M. Kinali, Lucy H. Feng, S. Brown +3 more
2009Neuropathology and Applied Neurobiology85 citations Open access
Semantic Scholar
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures
I. Scheffer, B. Grinton, S. Heron, S. Kivity +10 more
2012Neurology81 citations Open access
Semantic Scholar
Swallowing difficulties in Duchenne muscular dystrophy: indications for feeding assessment and outcome of videofluroscopic swallow studies.
A. Aloysius, P. Born, M. Kinali, T. Davis +2 more
2008European journal of paediatric neurology78 citations
Semantic Scholar
Predictive factors for the development of scoliosis in Duchenne muscular dystrophy.
M. Kinali, M. Main, J. Eliahoo, S. Messina +6 more
2007European journal of paediatric neurology78 citations
Semantic Scholar
Zellweger syndrome and secondary mitochondrial myopathy
V. Salpietro, R. Phadke, A. Saggar, I. Hargreaves +7 more
2015European Journal of Pediatrics70 citations
Semantic Scholar
Management of scoliosis in Duchenne muscular dystrophy: a large 10-year retrospective study.
M. Kinali, S. Messina, E. Mercuri, J. Lehovsky +3 more
2006Developmental Medicine & Child Neurology70 citations
Semantic Scholar
Delineation of the movement disorders associated with FOXG1 mutations
A. Papandreou, R. B. Schneider, Erika F. Augustine, J. Ng +23 more
2016Neurology67 citations Open access
Semantic Scholar
Autism spectrum disorder: prospects for treatment using gene therapy
Matthew Benger, M. Kinali, N. Mazarakis
2018Molecular Autism63 citations Open access
Semantic Scholar
Novel Mutations Mapping to the Fourth Sodium Channel Domain of Nav1.7 Result in Variable Clinical Manifestations of Primary Erythromelalgia
R. Cregg, B. Laguda, R. Werdehausen, J. Cox +12 more
2013Neuromolecular medicine61 citations Open access
Semantic Scholar
Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study
V. Salpietro, K. Mankad, M. Kinali, Ashok Adams +14 more
2014Journal of Pediatric Endocrinology & Metabolism (JPEM)60 citations
Semantic Scholar
Muscular dystrophies due to defective glycosylation of dystroglycan.
F. Muntoni, M. Brockington, C. Godfrey, M. Ackroyd +11 more
2007Acta myologica60 citations
Semantic Scholar
Siblings of young people with Duchenne muscular dystrophy--a qualitative study of impact and coping.
J. Read, M. Kinali, F. Muntoni, T. Weaver +1 more
2011European journal of paediatric neurology57 citations
Semantic Scholar
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.
E. Pavlidou, V. Salpietro, R. Phadke, I. Hargreaves +10 more
2016European journal of paediatric neurology51 citations
Semantic Scholar
Gene replacement ameliorates deficits in mouse and human models of cyclin-dependent kinase-like 5 disorder.
Yunan Gao, E. Irvine, I. Eleftheriadou, Carlos Naranjo +9 more
2020Brain : a journal of neurology50 citations Open access
Semantic Scholar
Psychosocial adjustment in siblings of young people with Duchenne muscular dystrophy.
J. Read, M. Kinali, F. Muntoni, M. E. Garralda
2010European journal of paediatric neurology50 citations
Semantic Scholar
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures
Sha Tang, L. Addis, Anna B. Smith, S. Topp +44 more
2020Epilepsia46 citations Open access
Semantic Scholar
Use of the Ketogenic Diet to Treat Intractable Epilepsy in Mitochondrial Disorders
Eleni Paleologou, Naila Ismayilova, M. Kinali
2017Journal of Clinical Medicine39 citations Open access
Semantic Scholar
Urinary tract effects of HPSE2 mutations.
H. Stuart, N. A. Roberts, E. Hilton, E. Mckenzie +37 more
2015Journal of the American Society of Nephrology37 citations Open access
Semantic Scholar
Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without ‘hairy elbows’: expanding the phenotype of Wiedemann–Steiner syndrome
D. Steel, V. Salpietro, R. Phadke, M. Pitt +7 more
2015Journal Genetika31 citations
Semantic Scholar
A microRNA‐328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy
N. Panjwani, Michael D. Wilson, L. Addis, J. Crosbie +18 more
2016Annals of Clinical and Translational Neurology29 citations Open access
Semantic Scholar
Sleep and well-being in young men with neuromuscular disorders receiving non-invasive ventilation and their carers.
J. Read, A. Simonds, M. Kinali, F. Muntoni +1 more
2010Neuromuscular Disorders29 citations
Semantic Scholar
A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus.
L. Hartley, M. Kinali, R. Knight, E. Mercuri +6 more
2007Neuromuscular Disorders29 citations
Semantic Scholar
Serial casting of the ankles in Duchenne muscular dystrophy: can it be an alternative to surgery?
M. Main, E. Mercuri, G. Haliloglu, R. Baker +2 more
2007Neuromuscular Disorders29 citations
Semantic Scholar
Machine learning with neuroimaging data to identify autism spectrum disorder: a systematic review and meta-analysis
Da-Yea Song, C. Topriceanu, Denis C. Ilie-Ablachim, M. Kinali +1 more
2021Neuroradiology25 citations Open access
Semantic Scholar
SCN2A mutation in an infant with Ohtahara syndrome and neuroimaging findings: expanding the phenotype of neuronal migration disorders
Victoria Vlachou, Line H. G. Larsen, E. Pavlidou, Naila Ismayilova +4 more
2019Journal Genetika20 citations
Semantic Scholar
Posterior reversible encephalopathy syndrome after intrathecal methotrexate infusion: a case report and literature update.
E. Pavlidou, E. Pavlou, A. Anastasiou, Pa-Na D. Zoi +3 more
2016Quantitative Imaging in Medicine and Surgery19 citations Open access
Semantic Scholar
Evolution of abnormal postures in Duchenne muscular dystrophy
M. Kinali, M. Main, E. Mercuri, F. Muntoni
2007Annals of Indian Academy of Neurology19 citations Open access
Semantic Scholar
Genetic neuropathies presenting with CIDP-like features in childhood.
M. Fernández-García, G. Stettner, M. Kinali, A. Clarke +4 more
2020Neuromuscular Disorders18 citations
Semantic Scholar
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome
Seth A. Stafki, Johnnie Turner, Hannah R. Littel, Christine C. Bruels +20 more
2023Pediatric Neurology17 citations Open access
Semantic Scholar
The multiple phenotypes of arthrogryposis multiplex congenita with reference to the neurogenic variant.
G. Ambegaonkar, A. Manzur, S. Robb, M. Kinali +1 more
2011European journal of paediatric neurology16 citations
Semantic Scholar
Neuroimaging Spectrum of Inherited Neurotransmitter Disorders
Y. Lim, K. Mankad, M. Kinali, A. Tan
2019Neuropediatrics14 citations
Semantic Scholar
Recent developments in the management of Duchenne muscular dystrophy
M. Kinali, A. Manzur, F. Muntoni
200813 citations
Semantic Scholar
A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations
A. Sri, P. Daubeney, S. Prasad, J. Baksi +2 more
2019Case Reports in Pediatrics10 citations Open access
Semantic Scholar
Genitopatellar syndrome: a further case.
R. Brugha, M. Kinali, K. Aminu, N. Bridges +1 more
2011Clinical Dysmorphology8 citations
Semantic Scholar
The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder
Matthew Benger, K. Mankad, C. Proukakis, N. Mazarakis +1 more
2019Frontiers in Neurology7 citations Open access
Semantic Scholar

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