Peripheral Nerve Disorders

• A Novel Pathogenic Mutation in WNK1 Gene Causing HSAN Type II in Three Siblings

  2024 Journal of Molecular Neuroscience article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders

  2

  citations
• Clinical Child Neurology

  2020 Springer eBooks book Medicine Fetal and Pediatric Neurological Disorders

  11

  citations
• Before scoliosis surgery look at the eyes and face of the child

  2020 Journal of Musculoskeletal Surgery and Research article Medicine Scoliosis diagnosis and treatment

  1

  citations
• Neuromuscular Disease

  2003 book-chapter Neuroscience Genetic Neurodegenerative Diseases

  0

  citations
• Subclinical peripheral nerve involvement in patients with rheumatoid arthritis

  1998 Arthritis & Rheumatism article Medicine Peripheral Nerve Disorders

  89

  citations
• Investigation of peripheral neuropathy.

  1995 Journal of Neurology Neurosurgery & Psychiatry article Neuroscience Hereditary Neurological Disorders Open access

  87

  citations
• Clinical Features of Guillain-Barré Syndrome

  1990 Clinical medicine and the nervous system book-chapter Medicine Peripheral Neuropathies and Disorders

  3

  citations
• Reversible proximal conduction block underlies rapid recovery in Guillain‐Barré syndrome

  1988 Muscle & Nerve article Medicine Peripheral Neuropathies and Disorders

  28

  citations
• Apport des examens electrophysiologiques dans l'etude des polyneuropathies

  1988 Neurophysiologie Clinique article Neuroscience Hereditary Neurological Disorders

  2

  citations
• Sodium-potassium-ATPase activity in the dorsal root ganglia of rats with streptozotocin-induced diabetes

  1985 Diabetologia article Pharmacology, Toxicology and Pharmaceutics Pharmacological Effects of Natural Compounds Open access

  30

  citations

10 results

• Guillain-Barré syndrome

  2016 The Lancet article Medicine Peripheral Neuropathies and Disorders Open access

  1,618

  citations
• Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease

  1974 Clinical Genetics article Neuroscience Hereditary Neurological Disorders

  915

  citations
• Intravenous immunoglobulin for Guillain-Barré syndrome

  2014 Cochrane Database of Systematic Reviews article Medicine Peripheral Neuropathies and Disorders Open access

  718

  citations
• Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

  2002 Nature Genetics article Neuroscience Genetic Neurodegenerative Diseases

  535

  citations
• Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

  2014 Cell Reports article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  485

  citations
• Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2

  2000 Nature Genetics article Neuroscience Hereditary Neurological Disorders

  470

  citations
• Guillain-Barr Syndrome

  1990 Annual Review of Medicine article Medicine Peripheral Neuropathies and Disorders

  412

  citations
• Guillain-Barré Syndrome and Variants

  2013 Neurologic Clinics article Medicine Peripheral Neuropathies and Disorders Open access

  378

  citations
• CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

  2014 Journal of Neurology Neurosurgery & Psychiatry article Neuroscience Hereditary Neurological Disorders Open access

  356

  citations
• The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

  2017 Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  324

  citations
• Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glaucoma

  2003 The American Journal of Human Genetics article Neuroscience Hereditary Neurological Disorders Open access

  314

  citations
• A de novo gain-of-function mutation in SCN11A causes loss of pain perception

  2013 Nature Genetics article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function

  313

  citations
• Prevention of Childhood Lead Toxicity

  2016 PEDIATRICS article Environmental Science Heavy Metal Exposure and Toxicity

  304

  citations
• Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review

  2016 Neuroepidemiology review Neuroscience Hereditary Neurological Disorders

  295

  citations
• EFNS guidelines for the use of intravenous immunoglobulin in treatment of neurological diseases

  2008 European Journal of Neurology article Medicine Peripheral Neuropathies and Disorders Open access

  291

  citations
• Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

  2016 Molecular Psychiatry article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases

  264

  citations
• Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

  2009 Brain article Neuroscience Genetic Neurodegenerative Diseases Open access

  252

  citations
• Hereditary sensory and autonomic neuropathies: types II, III, and IV

  2007 Orphanet Journal of Rare Diseases article Neuroscience Hereditary Neurological Disorders Open access

  241

  citations
• New developments in Charcot–Marie–Tooth neuropathy and related diseases

  2017 Current Opinion in Neurology article Neuroscience Hereditary Neurological Disorders

  200

  citations
• Patterns and severity of vincristine‐induced peripheral neuropathy in children with acute lymphoblastic leukemia

  2015 Journal of the Peripheral Nervous System article Medicine Cancer Treatment and Pharmacology Open access

  199

  citations